#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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	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_refseq_mrna_id	i_secondary_variant_classification
FOXK1	221937	hgsc.bcm.edu	37	7	4801867	4801867	+	Silent	SNP	G	G	A	rs570756478		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr7:4801867G>A	ENST00000328914.4	+	9	1974	c.1974G>A	c.(1972-1974)ccG>ccA	p.P658P	FOXK1_ENST00000446823.1_Silent_p.P495P	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CATCCGCGCCGGTGGTGGTCA	0.677																																																	0			7											31.0	22.0	25.0					7																	4801867		2114	4160	6274	4768393	SO:0001819	synonymous_variant	221937			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1974G>A	7.37:g.4801867G>A			4768393		Silent	SNP	ENST00000328914.4	37	CCDS34591.1																																																																																				0.677	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2		
TWIST1	7291	hgsc.bcm.edu	37	7	19156558	19156558	+	Silent	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr7:19156558G>A	ENST00000242261.5	-	1	737	c.387C>T	c.(385-387)gcC>gcT	p.A129A	AC003986.7_ENST00000417460.1_RNA|AC003986.6_ENST00000419944.1_RNA	NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	129	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				aortic valve morphogenesis (GO:0003180)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in heart valve development (GO:2000793)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cranial suture morphogenesis (GO:0060363)|embryonic camera-type eye formation (GO:0060900)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cushion morphogenesis (GO:0003203)|eyelid development in camera-type eye (GO:0061029)|in utero embryonic development (GO:0001701)|mitral valve morphogenesis (GO:0003183)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell motility (GO:2000147)|positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation (GO:2000802)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of bone mineralization (GO:0030500)|rhythmic process (GO:0048511)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription factor binding (GO:0008134)			lung(2)|upper_aerodigestive_tract(1)	3						TCCGCAGCGCGGCGAACGCCT	0.657																																																	0			7											88.0	68.0	75.0					7																	19156558		2203	4300	6503	19123083	SO:0001819	synonymous_variant	7291			U80998	CCDS5367.1	7p21	2014-02-07	2013-10-17	2003-03-28	ENSG00000122691	ENSG00000122691		"""Basic helix-loop-helix proteins"""	12428	protein-coding gene	gene with protein product	"""Saethre-Chotzen syndrome"""	601622	"""blepharophimosis, epicanthus inversus and ptosis 3"", ""acrocephalosyndactyly 3"", ""twist homolog 1 (Drosophila)"", ""twist basic helix-loop-helix transcription factor 1"", ""craniosynostosis"""	ACS3, BPES3, TWIST, CRS		8995765, 11474656, 17343269	Standard	XR_428085		Approved	SCS, H-twist, BPES2, bHLHa38, CRS1	uc003sum.3	Q15672	OTTHUMG00000090821	ENST00000242261.5:c.387C>T	7.37:g.19156558G>A			19123083	A4D128|Q92487|Q99804	Silent	SNP	ENST00000242261.5	37	CCDS5367.1																																																																																				0.657	TWIST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207625.1	NM_000474	
GCK	2645	hgsc.bcm.edu	37	7	44185154	44185154	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr7:44185154C>T	ENST00000403799.3	-	9	1664	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	GCK_ENST00000395796.3_Missense_Mutation_p.E398K|GCK_ENST00000437084.1_Missense_Mutation_p.E382K|GCK_ENST00000345378.2_Missense_Mutation_p.E400K	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	399	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						ATTACGTCCTCGCTGCGGCTC	0.682																																																	0			7	GRCh37	CM051930	GCK	M							29.0	28.0	29.0					7																	44185154		2202	4300	6502	44151679	SO:0001583	missense	5871			AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.1195G>A	7.37:g.44185154C>T	ENSP00000384247:p.Glu399Lys		44151679	A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972374	0.34848	.	.	ENSG00000106633	ENST00000336642;ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95;-3.95	5.43	3.56	0.40772	Hexokinase, C-terminal (1);	0.425728	0.27198	N	0.020467	D	0.86033	0.5836	N	0.08118	0	0.35861	D	0.827512	B;B;B;P;B	0.34684	0.185;0.015;0.153;0.463;0.185	B;B;B;B;B	0.19666	0.015;0.002;0.009;0.026;0.015	D	0.84578	0.0659	10	0.05721	T	0.95	-20.552	10.2853	0.43564	0.0:0.6743:0.2538:0.072	.	399;400;398;382;399	P35557;P35557-2;P35557-3;C9JQD1;A7LFL1	HXK4_HUMAN;.;.;.;.	K	83;399;398;400;382	ENSP00000338009:E83K;ENSP00000384247:E399K;ENSP00000379142:E398K;ENSP00000223366:E400K;ENSP00000402840:E382K	ENSP00000338009:E83K	E	-	1	0	GCK	44151679	0.994000	0.37717	0.997000	0.53966	0.996000	0.88848	0.436000	0.21526	0.611000	0.30052	0.561000	0.74099	GAG		0.682	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2		
FIGNL1	63979	hgsc.bcm.edu	37	7	50513668	50513668	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr7:50513668A>G	ENST00000419119.1	-	2	2871	c.1318T>C	c.(1318-1320)Ttt>Ctt	p.F440L	FIGNL1_ENST00000433017.1_Missense_Mutation_p.F440L|FIGNL1_ENST00000356889.4_Missense_Mutation_p.F440L|FIGNL1_ENST00000395556.2_Missense_Mutation_p.F440L			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	440					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				GGAGGACCAAAGAGCAAAATT	0.438																																																	0			7											51.0	54.0	53.0					7																	50513668		2203	4300	6503	50481162	SO:0001583	missense	63979			AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1318T>C	7.37:g.50513668A>G	ENSP00000410811:p.Phe440Leu		50481162	D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.905450	0.92107	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08	5.99	5.99	0.97316	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95778	0.8626	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96136	0.9096	10	0.87932	D	0	-19.5814	15.6754	0.77316	1.0:0.0:0.0:0.0	.	440	Q6PIW4	FIGL1_HUMAN	L	440	ENSP00000349356:F440L;ENSP00000378924:F440L;ENSP00000399997:F440L;ENSP00000410811:F440L	ENSP00000349356:F440L	F	-	1	0	FIGNL1	50481162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.291000	0.77112	0.533000	0.62120	TTT		0.438	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762	
PTPN12	5782	hgsc.bcm.edu	37	7	77230118	77230118	+	Silent	SNP	T	T	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr7:77230118T>C	ENST00000248594.6	+	8	962	c.690T>C	c.(688-690)caT>caC	p.H230H	PTPN12_ENST00000415482.2_Silent_p.H111H|PTPN12_ENST00000435495.2_Silent_p.H100H	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	230	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TTTGTATTCATTGCAGGTACA	0.299																																																	0			7											71.0	66.0	68.0					7																	77230118		2202	4300	6502	77068054	SO:0001819	synonymous_variant	5782				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.690T>C	7.37:g.77230118T>C			77068054	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Silent	SNP	ENST00000248594.6	37	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	T	8.691	0.907335	0.17833	.	.	ENSG00000127947	ENST00000522115	.	.	.	5.17	1.46	0.22682	.	.	.	.	.	T	0.54046	0.1834	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43556	-0.9384	4	.	.	.	.	6.7703	0.23591	0.0:0.4646:0.0:0.5354	.	.	.	.	T	169	.	.	I	+	2	0	PTPN12	77068054	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.415000	0.34748	0.313000	0.23062	0.455000	0.32223	ATT		0.299	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3		
ZAN	7455	hgsc.bcm.edu	37	7	100352869	100352869	+	RNA	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr7:100352869C>T	ENST00000348028.3	+	0	3310				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCCAAATGCCCGCTACGAATC	0.572																																																	0			7											128.0	134.0	132.0					7																	100352869		1961	4140	6101	100190805			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100352869C>T			100190805	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	c	13.46	2.245287	0.39697	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	D;D;D	0.90955	-2.76;-2.76;-2.76	4.86	4.86	0.63082	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.179933	0.27245	N	0.020245	D	0.88829	0.6543	L	0.31476	0.935	0.80722	D	1	D;D	0.56287	0.969;0.975	P;P	0.51229	0.533;0.663	D	0.89708	0.3910	10	0.62326	D	0.03	.	14.2135	0.65779	0.0:1.0:0.0:0.0	.	1049;1049	F5H0T8;Q9Y493	.;ZAN_HUMAN	C	1049	ENSP00000445943:R1049C;ENSP00000445091:R1049C;ENSP00000444427:R1049C	ENSP00000423579:R1049C	R	+	1	0	ZAN	100190805	1.000000	0.71417	0.496000	0.27539	0.060000	0.15804	5.970000	0.70431	2.609000	0.88269	0.651000	0.88453	CGC		0.572	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
SLC26A5	375611	hgsc.bcm.edu	37	7	103018944	103018944	+	Silent	SNP	G	G	A	rs577037869		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr7:103018944G>A	ENST00000306312.3	-	17	1995	c.1734C>T	c.(1732-1734)taC>taT	p.Y578Y	SLC26A5_ENST00000393727.1_Silent_p.Y578Y|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393729.1_Silent_p.Y541Y|SLC26A5_ENST00000354356.4_Silent_p.Y11Y|SLC26A5_ENST00000432958.2_Silent_p.Y546Y|SLC26A5_ENST00000339444.6_Silent_p.Y578Y|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393730.1_Silent_p.Y546Y|SLC26A5_ENST00000393723.1_Silent_p.Y546Y	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	578	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.Y578Y(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CTTCCTTAGCGTACTTCCGCA	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19434	0.001		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	ovary(1)	7											275.0	217.0	236.0					7																	103018944		2203	4300	6503	102806180	SO:0001819	synonymous_variant	375611			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1734C>T	7.37:g.103018944G>A			102806180	Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	37	CCDS5733.1																																																																																				0.453	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999	
PIK3CG	5294	hgsc.bcm.edu	37	7	106524645	106524645	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr7:106524645T>C	ENST00000359195.3	+	9	3116	c.2806T>C	c.(2806-2808)Tgt>Cgt	p.C936R	PIK3CG_ENST00000496166.1_Missense_Mutation_p.C936R|PIK3CG_ENST00000440650.2_Missense_Mutation_p.C936R	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	936	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGCAGGCTACTGTGTGGCAAC	0.363																																																	0			7											188.0	184.0	186.0					7																	106524645		2203	4300	6503	106311881	SO:0001583	missense	5294				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2806T>C	7.37:g.106524645T>C	ENSP00000352121:p.Cys936Arg		106311881	A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.365524	0.82463	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.77750	-1.12;-1.12;-1.12	5.05	5.05	0.67936	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.088781	0.85682	D	0.000000	D	0.90875	0.7133	H	0.94423	3.535	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.93413	0.6770	10	0.87932	D	0	-14.91	14.9476	0.71044	0.0:0.0:0.0:1.0	.	936	P48736	PK3CG_HUMAN	R	936	ENSP00000392258:C936R;ENSP00000419260:C936R;ENSP00000352121:C936R	ENSP00000352121:C936R	C	+	1	0	PIK3CG	106311881	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.100000	0.63781	0.533000	0.62120	TGT		0.363	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
CADPS2	93664	hgsc.bcm.edu	37	7	122303293	122303293	+	Missense_Mutation	SNP	G	G	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr7:122303293G>C	ENST00000449022.2	-	3	803	c.784C>G	c.(784-786)Cag>Gag	p.Q262E	CADPS2_ENST00000412584.2_Missense_Mutation_p.Q262E|CADPS2_ENST00000313070.7_Missense_Mutation_p.Q262E|CADPS2_ENST00000334010.7_Missense_Mutation_p.Q262E	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	262					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CCACTTACCTGACATGCATTA	0.388																																																	0			7											74.0	70.0	71.0					7																	122303293		1858	4105	5963	122090529	SO:0001583	missense	93664				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.784C>G	7.37:g.122303293G>C	ENSP00000398481:p.Gln262Glu		122090529	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801055	0.70567	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.48836	0.8;0.81;0.8;0.81	5.32	5.32	0.75619	.	0.054210	0.85682	D	0.000000	T	0.56775	0.2008	M	0.79258	2.445	0.80722	D	1	P;B	0.35700	0.516;0.278	B;B	0.38755	0.281;0.112	T	0.63681	-0.6582	10	0.87932	D	0	-5.896	18.9943	0.92806	0.0:0.0:1.0:0.0	.	262;262	Q86UW7-2;Q86UW7	.;CAPS2_HUMAN	E	262;262;262;229;262;262	ENSP00000325581:Q262E;ENSP00000333940:Q262E;ENSP00000400401:Q262E;ENSP00000398481:Q262E	ENSP00000325581:Q262E	Q	-	1	0	CADPS2	122090529	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.835000	0.99442	2.504000	0.84457	0.650000	0.86243	CAG		0.388	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954	
ZC3HAV1	56829	hgsc.bcm.edu	37	7	138732534	138732534	+	Missense_Mutation	SNP	C	C	T	rs371159477		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr7:138732534C>T	ENST00000242351.5	-	13	2831	c.2515G>A	c.(2515-2517)Gtt>Att	p.V839I	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.V961I	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	839	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ACAAACATAACGACGTTTTTG	0.393																																																	0			7						C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	126.0	126.0	126.0		2515	3.2	0.3	7		126	0,8600		0,0,4300	no	missense	ZC3HAV1	NM_020119.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	839/903	138732534	1,13005	2203	4300	6503	138383074	SO:0001583	missense	56829			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2515G>A	7.37:g.138732534C>T	ENSP00000242351:p.Val839Ile		138383074	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	C	8.447	0.852142	0.17034	2.27E-4	0.0	ENSG00000105939	ENST00000242351;ENST00000464606	T;T	0.13657	2.57;2.57	5.23	3.18	0.36537	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.465986	0.18129	N	0.150791	T	0.07593	0.0191	L	0.38531	1.155	0.49687	D	0.999819	P	0.36330	0.548	B	0.23574	0.047	T	0.30650	-0.9971	10	0.25106	T	0.35	.	5.4552	0.16586	0.0:0.6654:0.0:0.3346	.	839	Q7Z2W4	ZCCHV_HUMAN	I	839;961	ENSP00000242351:V839I;ENSP00000418385:V961I	ENSP00000242351:V839I	V	-	1	0	ZC3HAV1	138383074	0.000000	0.05858	0.344000	0.25628	0.333000	0.28666	0.408000	0.21065	1.342000	0.45619	-0.378000	0.06908	GTT		0.393	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119	
OR2A5	393046	hgsc.bcm.edu	37	7	143748302	143748302	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr7:143748302C>A	ENST00000408906.2	+	1	842	c.808C>A	c.(808-810)Cag>Aag	p.Q270K		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CCCTGAGGAGCAGCAGAAGGT	0.562																																																	0			7											99.0	98.0	98.0					7																	143748302		1999	4184	6183	143379235	SO:0001583	missense	393046			U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.808C>A	7.37:g.143748302C>A	ENSP00000386208:p.Gln270Lys		143379235	B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774687	0.31411	.	.	ENSG00000221836	ENST00000408906	T	0.00137	8.68	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.299100	0.18182	U	0.149084	T	0.00144	0.0004	N	0.20986	0.625	0.24712	N	0.993193	B	0.17852	0.024	B	0.21151	0.033	T	0.47674	-0.9099	10	0.41790	T	0.15	.	11.5247	0.50573	0.1784:0.8216:0.0:0.0	.	270	Q96R48	OR2A5_HUMAN	K	270	ENSP00000386208:Q270K	ENSP00000386208:Q270K	Q	+	1	0	OR2A5	143379235	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.985000	0.03751	2.797000	0.96272	0.650000	0.86243	CAG		0.562	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1		
MROH8	140699	hgsc.bcm.edu	37	20	35748189	35748189	+	Missense_Mutation	SNP	C	C	T	rs556574052		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr20:35748189C>T	ENST00000400441.3	-	18	2281	c.2282G>A	c.(2281-2283)cGc>cAc	p.R761H	MROH8_ENST00000217333.8_Missense_Mutation_p.R590H|MROH8_ENST00000441008.2_Missense_Mutation_p.R747H			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	330																	GTCTTTAAAGCGGGCAACAGA	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		14574	0.001		0.0	False		,,,				2504	0.0																0			20											88.0	90.0	89.0					20																	35748189		1948	4157	6105	35181603	SO:0001583	missense	140699			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2282G>A	20.37:g.35748189C>T	ENSP00000383291:p.Arg761His		35181603	Q5JYQ6	Silent	SNP	ENST00000400441.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.16|13.16	2.153206|2.153206	0.38021|0.38021	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000343811|ENST00000441008;ENST00000400441;ENST00000217333	.|T;T;T	.|0.66815	.|-0.23;1.43;-0.15	5.05|5.05	4.11|4.11	0.48088|0.48088	.|.	.|0.092343	.|0.46145	.|D	.|0.000305	T|T	0.70159|0.70159	0.3192|0.3192	L|L	0.32530|0.32530	0.975|0.975	0.36078|0.36078	D|D	0.842616|0.842616	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.996	T|T	0.73895|0.73895	-0.3838|-0.3838	5|10	.|0.39692	.|T	.|0.17	-9.1967|-9.1967	9.5596|9.5596	0.39360|0.39360	0.0:0.9015:0.0:0.0985|0.0:0.9015:0.0:0.0985	.|.	.|761;595	.|E7ETR9;Q9H579-2	.|.;.	T|H	788|747;761;590	.|ENSP00000392144:R747H;ENSP00000383291:R761H;ENSP00000217333:R590H	.|ENSP00000217333:R590H	A|R	-|-	1|2	0|0	C20orf132|C20orf132	35181603|35181603	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.066000|0.066000	0.16364|0.16364	2.209000|2.209000	0.42806|0.42806	1.262000|1.262000	0.44165|0.44165	0.650000|0.650000	0.86243|0.86243	GCT|CGC		0.493	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503	
ACTR5	79913	hgsc.bcm.edu	37	20	37377454	37377454	+	Missense_Mutation	SNP	G	G	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr20:37377454G>C	ENST00000243903.4	+	1	370	c.333G>C	c.(331-333)ttG>ttC	p.L111F		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	111					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				TTCAGGAGTTGCTGCTGGACT	0.662																																																	0			20											16.0	17.0	16.0					20																	37377454		2187	4271	6458	36810868	SO:0001583	missense	79913			AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.333G>C	20.37:g.37377454G>C	ENSP00000243903:p.Leu111Phe		36810868	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	ENST00000243903.4	37	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477889	0.44044	.	.	ENSG00000101442	ENST00000243903	D	0.94417	-3.42	4.2	4.2	0.49525	.	0.068887	0.64402	D	0.000013	D	0.95971	0.8688	M	0.63428	1.95	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	D	0.93961	0.7240	10	0.10377	T	0.69	-17.1057	17.091	0.86622	0.0:0.0:1.0:0.0	.	111	Q9H9F9	ARP5_HUMAN	F	111	ENSP00000243903:L111F	ENSP00000243903:L111F	L	+	3	2	ACTR5	36810868	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	4.041000	0.57339	2.313000	0.78055	0.655000	0.94253	TTG		0.662	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855	
L3MBTL1	26013	hgsc.bcm.edu	37	20	42157978	42157978	+	Silent	SNP	G	G	A	rs371655802		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr20:42157978G>A	ENST00000427442.2	+	9	1119	c.960G>A	c.(958-960)ccG>ccA	p.P320P	L3MBTL1_ENST00000444063.1_Silent_p.P252P|L3MBTL1_ENST00000373134.1_Silent_p.P252P|L3MBTL1_ENST00000373135.3_Silent_p.P252P|L3MBTL1_ENST00000418998.1_Silent_p.P320P			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	252				LR -> MC (in Ref. 1; AAC69438). {ECO:0000305}.	chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CTCAACACCCGTCCATGTACT	0.532																																																	0			20						G	,	0,4406		0,0,2203	208.0	130.0	157.0		756,960	-7.7	0.7	20		157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	L3MBTL1	NM_015478.6,NM_032107.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	252/773,320/841	42157978	1,13005	2203	4300	6503	41591392	SO:0001819	synonymous_variant	26013			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.960G>A	20.37:g.42157978G>A			41591392	B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Silent	SNP	ENST00000427442.2	37	CCDS46602.2																																																																																				0.532	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107	
TAF4	6874	hgsc.bcm.edu	37	20	60639550	60639550	+	Silent	SNP	C	C	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr20:60639550C>A	ENST00000252996.4	-	1	1316	c.1317G>T	c.(1315-1317)ccG>ccT	p.P439P	hsa-mir-3195_ENST00000585001.1_RNA	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	439					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GGTTCTGAGGCGGCTGCGGCA	0.731																																																	0			20											5.0	8.0	7.0					20																	60639550		2100	4181	6281	60072945	SO:0001819	synonymous_variant	6874			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1317G>T	20.37:g.60639550C>A			60072945	A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Silent	SNP	ENST00000252996.4	37	CCDS33500.1																																																																																				0.731	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185	
CECR2	27443	hgsc.bcm.edu	37	22	17990860	17990860	+	Missense_Mutation	SNP	C	C	T	rs372166419		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr22:17990860C>T	ENST00000400585.2	+	8	835	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	CECR2_ENST00000262608.8_Missense_Mutation_p.R255C|CECR2_ENST00000400573.5_Missense_Mutation_p.R274C|CECR2_ENST00000342247.5_Intron			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	296					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		ACGTCCACAGCGCACAAAGGC	0.507																																																	0			22						C	CYS/ARG	0,4086		0,0,2043	127.0	125.0	126.0		760	2.8	1.0	22		126	2,8380		0,2,4189	no	missense	CECR2	NM_031413.3	180	0,2,6232	TT,TC,CC		0.0239,0.0,0.016	probably-damaging	254/1443	17990860	2,12466	2043	4191	6234	16370860	SO:0001583	missense	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.397C>T	22.37:g.17990860C>T	ENSP00000383428:p.Arg133Cys		16370860	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	ENST00000400585.2	37		.	.	.	.	.	.	.	.	.	.	C	16.07	3.019036	0.54576	0.0	2.39E-4	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.50001	0.76;0.76;0.76	3.77	2.75	0.32379	.	0.329738	0.21751	N	0.069665	T	0.49338	0.1551	M	0.67397	2.05	0.46823	D	0.99921	D;D;D	0.71674	0.998;0.985;0.985	P;P;P	0.47528	0.549;0.451;0.451	T	0.53542	-0.8424	10	0.87932	D	0	-1.3379	9.3281	0.38005	0.0:0.899:0.0:0.101	.	296;133;274	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	C	133;274;255	ENSP00000383428:R133C;ENSP00000383417:R274C;ENSP00000262608:R255C	ENSP00000262608:R255C	R	+	1	0	CECR2	16370860	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.162000	0.31786	0.794000	0.33899	0.585000	0.79938	CGC		0.507	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413	
ADORA2A	135	hgsc.bcm.edu	37	22	24829521	24829521	+	Missense_Mutation	SNP	C	C	T	rs4530	byFrequency	TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr22:24829521C>T	ENST00000337539.7	+	2	608	c.149C>T	c.(148-150)gCg>gTg	p.A50V	ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A_ENST00000496497.1_Intron|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	50			A -> V (in dbSNP:rs4530). {ECO:0000269|PubMed:10391209}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	TCACTGGCGGCGGCCGACATC	0.622													C|||	41	0.0081869	0.031	0.0	5008	,	,		17105	0.0		0.0	False		,,,				2504	0.0																0			22						C	VAL/ALA	103,4303	80.4+/-118.8	3,97,2103	164.0	107.0	127.0		149	3.5	1.0	22	dbSNP_52	127	8,8592	6.4+/-24.3	0,8,4292	yes	missense	ADORA2A	NM_000675.4	64	3,105,6395	TT,TC,CC		0.093,2.3377,0.8535	benign	50/413	24829521	111,12895	2203	4300	6503	23159521	SO:0001583	missense	135			X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.149C>T	22.37:g.24829521C>T	ENSP00000336630:p.Ala50Val		23159521	B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	CCDS13826.1	14	0.00641025641025641	14	0.028455284552845527	0	0.0	0	0.0	0	0.0	C	4.193	0.034564	0.08101	0.023377	9.3E-4	ENSG00000128271	ENST00000424232;ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596;ENST00000436735;ENST00000439591	T;T;T;T;T	0.32753	1.44;2.18;2.18;1.44;1.44	4.53	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	0.110120	0.64402	N	0.000008	T	0.02156	0.0067	N	0.01015	-1.05	0.49213	D	0.99976	B	0.31351	0.32	B	0.15870	0.014	T	0.31138	-0.9954	10	0.02654	T	1	-20.2401	10.8342	0.46677	0.0:0.9017:0.0:0.0983	rs4530;rs4530	50	P29274	AA2AR_HUMAN	V	50	ENSP00000404497:A50V;ENSP00000414802:A50V;ENSP00000336630:A50V;ENSP00000397071:A50V;ENSP00000400190:A50V	ENSP00000336630:A50V	A	+	2	0	ADORA2A	23159521	0.991000	0.36638	0.983000	0.44433	0.586000	0.36452	2.262000	0.43285	1.032000	0.39892	-0.367000	0.07326	GCG		0.622	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675	
SHANK3	85358	hgsc.bcm.edu	37	22	51160203	51160203	+	Silent	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr22:51160203C>T	ENST00000414786.2	+	21	4127	c.3900C>T	c.(3898-3900)gcC>gcT	p.A1300A	SHANK3_ENST00000445220.2_Silent_p.A1316A|SHANK3_ENST00000262795.3_Silent_p.A1330A			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1314	Pro-rich.				adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AAGAGTTTGCCAACGGGGTCC	0.692																																																	0			22											9.0	11.0	11.0					22																	51160203		1974	4144	6118	49507069	SO:0001819	synonymous_variant	85358			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3900C>T	22.37:g.51160203C>T			49507069	D7UT47|Q8TET3	Silent	SNP	ENST00000414786.2	37																																																																																					0.692	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420	
ARHGAP5	394	hgsc.bcm.edu	37	14	32561296	32561296	+	Missense_Mutation	SNP	T	T	C	rs200111638		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr14:32561296T>C	ENST00000345122.3	+	2	1736	c.1421T>C	c.(1420-1422)gTa>gCa	p.V474A	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V474A|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V474A|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V474A	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	474	FF 3.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGCAAAGAGGTATATGGTAGG	0.368																																					NSCLC(9;77 350 3443 29227 41353)												0			14											74.0	77.0	76.0					14																	32561296		2203	4297	6500	31631047	SO:0001583	missense	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1421T>C	14.37:g.32561296T>C	ENSP00000371897:p.Val474Ala		31631047	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311365	0.60414	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	6.02	6.02	0.97574	FF domain (1);	0.000000	0.85682	D	0.000000	T	0.25457	0.0619	L	0.40543	1.245	0.80722	D	1	P;P	0.49961	0.93;0.885	P;P	0.56042	0.79;0.622	T	0.00254	-1.1874	10	0.56958	D	0.05	.	16.5494	0.84464	0.0:0.0:0.0:1.0	.	474;474	Q13017-2;Q13017	.;RHG05_HUMAN	A	474	ENSP00000452222:V474A;ENSP00000441692:V474A;ENSP00000371897:V474A;ENSP00000393307:V474A	ENSP00000371897:V474A	V	+	2	0	ARHGAP5	31631047	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.040000	0.89188	2.299000	0.77371	0.528000	0.53228	GTA		0.368	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055	
MPP5	64398	hgsc.bcm.edu	37	14	67790521	67790521	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr14:67790521A>G	ENST00000261681.4	+	14	2504	c.1843A>G	c.(1843-1845)Aat>Gat	p.N615D	ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Missense_Mutation_p.N581D	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	615	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)	p.N615Y(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AGAAGGCAAGAATCCAAAGGT	0.383																																																	1	Substitution - Missense(1)	ovary(1)	14											70.0	70.0	70.0					14																	67790521		2203	4300	6503	66860274	SO:0001583	missense	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1843A>G	14.37:g.67790521A>G	ENSP00000261681:p.Asn615Asp		66860274	A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	ENST00000261681.4	37	CCDS9779.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.414664	0.62511	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.13901	2.55;2.55	5.64	5.64	0.86602	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.12050	0.0293	N	0.13003	0.285	0.80722	D	1	P	0.39665	0.682	P	0.45538	0.484	T	0.28650	-1.0037	10	0.12766	T	0.61	.	15.8662	0.79067	1.0:0.0:0.0:0.0	.	615	Q8N3R9	MPP5_HUMAN	D	615;581	ENSP00000261681:N615D;ENSP00000451488:N581D	ENSP00000261681:N615D	N	+	1	0	MPP5	66860274	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.122000	0.71608	2.153000	0.67306	0.377000	0.23210	AAT		0.383	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474	
GTF2A1	2957	hgsc.bcm.edu	37	14	81682800	81682800	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr14:81682800A>G	ENST00000553612.1	-	2	492	c.89T>C	c.(88-90)cTg>cCg	p.L30P	GTF2A1_ENST00000434192.2_5'UTR	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	30			L -> V (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		TCCATCATCCAGAAAGATGTC	0.308																																																	0			14											68.0	67.0	67.0					14																	81682800		2203	4300	6503	80752553	SO:0001583	missense	2957			X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"""General transcription factors"""	4646	protein-coding gene	gene with protein product		600520	"""glucose regulated protein, 58kD pseudogene"""			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.89T>C	14.37:g.81682800A>G	ENSP00000452454:p.Leu30Pro		80752553	Q3KNQ9	Missense_Mutation	SNP	ENST00000553612.1	37	CCDS9873.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.309626	0.81247	.	.	ENSG00000165417	ENST00000553612	T	0.50548	0.74	5.66	5.66	0.87406	Transcription factor IIA, alpha subunit, N-terminal (1);Transcription factor IIA, helical (1);	0.000000	0.85682	D	0.000000	T	0.70176	0.3194	M	0.80982	2.52	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.71820	-0.4477	10	0.44086	T	0.13	-9.5887	16.1762	0.81855	1.0:0.0:0.0:0.0	.	30	P52655	TF2AA_HUMAN	P	30	ENSP00000452454:L30P	ENSP00000298173:L30P	L	-	2	0	GTF2A1	80752553	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	8.963000	0.93385	2.283000	0.76528	0.477000	0.44152	CTG		0.308	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859	
ODF3L2	284451	hgsc.bcm.edu	37	19	464316	464316	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr19:464316G>A	ENST00000315489.4	-	4	633	c.398C>T	c.(397-399)cCc>cTc	p.P133L	ODF3L2_ENST00000382696.3_Missense_Mutation_p.P97L	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	133	Pro-rich.					cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						GCGCACAGGGGGCACCTTCTC	0.667																																																	0			19											7.0	8.0	8.0					19																	464316		1778	3456	5234	415316	SO:0001583	missense	284451			AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 19"""	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.398C>T	19.37:g.464316G>A	ENSP00000318029:p.Pro133Leu		415316	Q3SX65|Q8N1L2	Missense_Mutation	SNP	ENST00000315489.4	37	CCDS12027.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832385	0.32421	.	.	ENSG00000181781	ENST00000315489;ENST00000382696	T;T	0.44482	1.46;0.92	4.06	4.06	0.47325	.	0.191340	0.45867	D	0.000321	T	0.48169	0.1485	M	0.81341	2.54	0.58432	D	0.999999	P;P	0.47253	0.892;0.573	P;B	0.47376	0.545;0.345	T	0.48269	-0.9050	10	0.33141	T	0.24	-13.9542	7.8069	0.29209	0.1181:0.0:0.8819:0.0	.	97;133	Q3SX64-2;Q3SX64	.;OD3L2_HUMAN	L	133;97	ENSP00000318029:P133L;ENSP00000372143:P97L	ENSP00000318029:P133L	P	-	2	0	ODF3L2	415316	1.000000	0.71417	0.998000	0.56505	0.374000	0.29953	6.699000	0.74613	1.836000	0.53414	0.536000	0.68110	CCC		0.667	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451849.2	NM_182577	
ACSBG2	81616	hgsc.bcm.edu	37	19	6182935	6182935	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr19:6182935G>T	ENST00000586696.1	+	9	1356	c.1080G>T	c.(1078-1080)aaG>aaT	p.K360N	ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588485.1_Missense_Mutation_p.K173N|ACSBG2_ENST00000591403.1_Missense_Mutation_p.K360N|ACSBG2_ENST00000252669.5_Missense_Mutation_p.K360N|ACSBG2_ENST00000588304.1_Missense_Mutation_p.K310N			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	360					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTCAAAAAAGATGTTGGGGT	0.517																																																	0			19											79.0	76.0	77.0					19																	6182935		2203	4300	6503	6133935	SO:0001583	missense	81616				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1080G>T	19.37:g.6182935G>T	ENSP00000465589:p.Lys360Asn		6133935	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	G	6.359	0.434355	0.12045	.	.	ENSG00000130377	ENST00000252669	T	0.17528	2.27	4.8	4.8	0.61643	AMP-dependent synthetase/ligase (1);	0.702299	0.11937	N	0.515166	T	0.26122	0.0637	M	0.64404	1.975	0.28616	N	0.908428	B;P	0.38335	0.142;0.627	B;P	0.44422	0.14;0.449	T	0.08764	-1.0706	10	0.17369	T	0.5	-15.1977	14.5883	0.68344	0.0:0.0:1.0:0.0	.	360;360	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	N	360	ENSP00000252669:K360N	ENSP00000252669:K360N	K	+	3	2	ACSBG2	6133935	0.594000	0.26849	0.217000	0.23759	0.019000	0.09904	0.870000	0.28010	2.197000	0.70478	0.455000	0.32223	AAG		0.517	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924	
CCDC105	126402	hgsc.bcm.edu	37	19	15121876	15121876	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr19:15121876G>T	ENST00000292574.3	+	1	321	c.239G>T	c.(238-240)gGc>gTc	p.G80V	SLC1A6_ENST00000430939.2_5'Flank	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	80						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						ATGATCAAAGGCGGCGGCACC	0.701																																																	0			19											8.0	9.0	9.0					19																	15121876		2134	4231	6365	14982876	SO:0001583	missense	126402			AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.239G>T	19.37:g.15121876G>T	ENSP00000292574:p.Gly80Val		14982876	Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683692	0.47991	.	.	ENSG00000160994	ENST00000292574	T	0.17054	2.3	4.03	4.03	0.46877	.	0.000000	0.41396	D	0.000894	T	0.27098	0.0664	L	0.34521	1.04	0.51233	D	0.999918	D	0.76494	0.999	D	0.65010	0.931	T	0.02288	-1.1182	10	0.72032	D	0.01	-21.9406	11.6793	0.51448	0.0:0.0:1.0:0.0	.	80	Q8IYK2	CC105_HUMAN	V	80	ENSP00000292574:G80V	ENSP00000292574:G80V	G	+	2	0	CCDC105	14982876	0.100000	0.21855	0.254000	0.24359	0.303000	0.27691	1.773000	0.38563	1.775000	0.52247	0.462000	0.41574	GGC		0.701	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482	
PSG4	5672	hgsc.bcm.edu	37	19	43702283	43702283	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr19:43702283C>A	ENST00000405312.3	-	3	812	c.575G>T	c.(574-576)aGg>aTg	p.R192M	PSG4_ENST00000244295.9_Missense_Mutation_p.R192M|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	192	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CAGCTGCAACCTGTGAGTCAT	0.507																																																	0			19											145.0	166.0	159.0					19																	43702283		2131	4273	6404	48394123	SO:0001583	missense	5672				CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.575G>T	19.37:g.43702283C>A	ENSP00000384770:p.Arg192Met		48394123	E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	c	10.29	1.309344	0.23821	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000451895	T;T;T	0.12984	2.63;2.63;2.63	1.96	0.848	0.18966	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39809	0.1092	M	0.92077	3.27	0.09310	N	0.999998	D;D;D	0.65815	0.995;0.979;0.985	D;P;D	0.71656	0.974;0.855;0.949	T	0.13818	-1.0495	9	0.87932	D	0	.	5.667	0.17700	0.0:0.8135:0.0:0.1865	.	208;192;192	C9JWP2;Q00888-2;Q00888	.;.;PSG4_HUMAN	M	192;192;208	ENSP00000244295:R192M;ENSP00000384770:R192M;ENSP00000388134:R208M	ENSP00000244295:R192M	R	-	2	0	PSG4	48394123	0.001000	0.12720	0.004000	0.12327	0.000000	0.00434	0.501000	0.22578	0.083000	0.17047	-1.218000	0.01608	AGG		0.507	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633	
ZNF180	7733	hgsc.bcm.edu	37	19	44980971	44980971	+	Missense_Mutation	SNP	G	G	A	rs567468606		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr19:44980971G>A	ENST00000221327.4	-	5	2008	c.1727C>T	c.(1726-1728)cCg>cTg	p.P576L	ZNF180_ENST00000391956.4_Missense_Mutation_p.P551L|ZNF180_ENST00000592529.1_Missense_Mutation_p.P549L|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	576					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.P576L(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				ACATTCATACGGTTTTTCCCC	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		21305	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(180;1353 2003 32862 46574 49854)												1	Substitution - Missense(1)	ovary(1)	19											104.0	104.0	104.0					19																	44980971		2203	4300	6503	49672811	SO:0001583	missense	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1727C>T	19.37:g.44980971G>A	ENSP00000221327:p.Pro576Leu		49672811	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137100	0.77775	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.56444	0.46;0.46	5.66	5.66	0.87406	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41823	D	0.000812	T	0.70055	0.3180	L	0.56340	1.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71461	-0.4586	10	0.87932	D	0	-14.9646	18.5038	0.90890	0.0:0.0:1.0:0.0	.	551;575;576	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	L	576;551	ENSP00000221327:P576L;ENSP00000375818:P551L	ENSP00000221327:P576L	P	-	2	0	ZNF180	49672811	1.000000	0.71417	0.980000	0.43619	0.876000	0.50452	4.315000	0.59172	2.673000	0.90976	0.591000	0.81541	CCG		0.408	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256	
ZNF615	284370	hgsc.bcm.edu	37	19	52497554	52497554	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr19:52497554G>A	ENST00000602063.1	-	6	1124	c.775C>T	c.(775-777)Cat>Tat	p.H259Y	ZNF615_ENST00000598071.1_Missense_Mutation_p.H270Y|ZNF615_ENST00000391795.3_Missense_Mutation_p.H264Y|ZNF615_ENST00000594083.1_Missense_Mutation_p.H270Y|ZNF615_ENST00000376716.5_Missense_Mutation_p.H259Y			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	259					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)	p.H259Y(1)|p.H270Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CATTCATAATGTTTCAGTTCT	0.398																																																	2	Substitution - Missense(2)	ovary(2)	19											160.0	148.0	152.0					19																	52497554		2203	4300	6503	57189366	SO:0001583	missense	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.775C>T	19.37:g.52497554G>A	ENSP00000473089:p.His259Tyr		57189366	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	5.602	0.295863	0.10622	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.07444	3.19;3.19	3.32	1.14	0.20703	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	N	0.16368	0.405	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.36768	-0.9734	9	0.62326	D	0.03	.	8.0487	0.30564	0.2119:0.0:0.7881:0.0	.	264;266;270;259	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	Y	259;269;264;269	ENSP00000365906:H259Y;ENSP00000375672:H264Y	ENSP00000347019:H269Y	H	-	1	0	ZNF615	57189366	0.000000	0.05858	0.001000	0.08648	0.559000	0.35586	0.654000	0.24918	0.241000	0.21283	0.555000	0.69702	CAT		0.398	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480	
BRSK1	84446	hgsc.bcm.edu	37	19	55814754	55814754	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr19:55814754C>A	ENST00000309383.1	+	11	1381	c.1104C>A	c.(1102-1104)gaC>gaA	p.D368E	BRSK1_ENST00000326848.7_Missense_Mutation_p.D63E|BRSK1_ENST00000590333.1_Missense_Mutation_p.D384E	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	368					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AGGACCAGGACCTGCCTCCCC	0.572																																																	0			19											71.0	70.0	71.0					19																	55814754		2203	4300	6503	60506566	SO:0001583	missense	84446			AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1104C>A	19.37:g.55814754C>A	ENSP00000310649:p.Asp368Glu		60506566	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	10.37	1.332411	0.24167	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.71341	-0.56;1.94	3.96	2.91	0.33838	.	0.000000	0.85682	D	0.000000	T	0.56877	0.2015	L	0.52011	1.625	0.44330	D	0.997218	B;P	0.36110	0.376;0.537	B;B	0.32928	0.145;0.155	T	0.49579	-0.8925	10	0.19147	T	0.46	.	7.7564	0.28927	0.0:0.8001:0.0:0.1999	.	368;384	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	E	368;63;63	ENSP00000310649:D368E;ENSP00000320853:D63E	ENSP00000310649:D368E	D	+	3	2	BRSK1	60506566	0.994000	0.37717	1.000000	0.80357	0.987000	0.75469	0.468000	0.22051	1.021000	0.39600	-0.291000	0.09656	GAC		0.572	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430	
NLRP8	126205	hgsc.bcm.edu	37	19	56490768	56490768	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr19:56490768A>G	ENST00000291971.3	+	9	2956	c.2885A>G	c.(2884-2886)aAc>aGc	p.N962S	NLRP8_ENST00000590542.1_Missense_Mutation_p.N943S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	962					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.N962I(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGGCTGGAAAACTGCCTGTTC	0.512																																																	1	Substitution - Missense(1)	ovary(1)	19											107.0	102.0	104.0					19																	56490768		2203	4300	6503	61182580	SO:0001583	missense	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2885A>G	19.37:g.56490768A>G	ENSP00000291971:p.Asn962Ser		61182580	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	A	0.026	-1.374975	0.01214	.	.	ENSG00000179709	ENST00000291971	T	0.53640	0.61	2.36	-4.45	0.03546	.	.	.	.	.	T	0.22704	0.0548	N	0.16307	0.4	0.09310	N	1	B;B	0.18610	0.029;0.008	B;B	0.25884	0.064;0.013	T	0.30707	-0.9969	9	0.10111	T	0.7	.	3.9846	0.09509	0.5893:0.0:0.2241:0.1866	.	943;962	Q86W28-2;Q86W28	.;NALP8_HUMAN	S	962	ENSP00000291971:N962S	ENSP00000291971:N962S	N	+	2	0	NLRP8	61182580	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.827000	0.01704	-1.064000	0.03172	-1.175000	0.01729	AAC		0.512	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	
C19orf18	147685	hgsc.bcm.edu	37	19	58469998	58469998	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr19:58469998G>T	ENST00000314391.3	-	6	721	c.620C>A	c.(619-621)tCa>tAa	p.S207*		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	207						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		TCCATTATGTGACGCATTCTT	0.413																																																	0			19											73.0	69.0	70.0					19																	58469998		2203	4300	6503	63161810	SO:0001587	stop_gained	147685			BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.620C>A	19.37:g.58469998G>T	ENSP00000321519:p.Ser207*		63161810		Nonsense_Mutation	SNP	ENST00000314391.3	37	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522076	0.27211	.	.	ENSG00000177025	ENST00000314391	.	.	.	2.96	-0.907	0.10521	.	.	.	.	.	.	.	.	.	.	.	0.24686	N	0.993335	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2528	3.3087	0.07009	0.3858:0.2511:0.3631:0.0	.	.	.	.	X	207	.	ENSP00000321519:S207X	S	-	2	0	C19orf18	63161810	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	-0.224000	0.09928	0.485000	0.47835	TCA		0.413	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474	
ZNF606	80095	hgsc.bcm.edu	37	19	58489967	58489967	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr19:58489967T>C	ENST00000341164.4	-	7	2701	c.2081A>G	c.(2080-2082)cAc>cGc	p.H694R	ZNF606_ENST00000536132.1_Missense_Mutation_p.H604R	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	694					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TGCAATGAGGTGAGAACTACA	0.413																																																	0			19											98.0	96.0	97.0					19																	58489967		2203	4300	6503	63181779	SO:0001583	missense	80095			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.2081A>G	19.37:g.58489967T>C	ENSP00000343617:p.His694Arg		63181779	A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	T	8.335	0.827384	0.16749	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.12984	2.63;2.63	4.43	4.43	0.53597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000220	T	0.07458	0.0188	N	0.03294	-0.36	0.28415	N	0.918022	P	0.51653	0.947	B	0.44133	0.442	T	0.15492	-1.0435	10	0.32370	T	0.25	.	13.0673	0.59041	0.0:0.0:0.0:1.0	.	694	Q8WXB4	ZN606_HUMAN	R	694;604	ENSP00000343617:H694R;ENSP00000445624:H604R	ENSP00000343617:H694R	H	-	2	0	ZNF606	63181779	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	-0.042000	0.12063	1.965000	0.57142	0.459000	0.35465	CAC		0.413	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027	
CSMD1	64478	hgsc.bcm.edu	37	8	2823318	2823318	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr8:2823318G>A	ENST00000520002.1	-	60	9817	c.9262C>T	c.(9262-9264)Ccg>Tcg	p.P3088S	CSMD1_ENST00000602557.1_Missense_Mutation_p.P3088S|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.P3087S|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3088	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.P2816K(1)|p.P3087K(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGTTTGCTCGGATTCCACCTG	0.428																																																	2	Substitution - Missense(2)	lung(2)	8											79.0	79.0	79.0					8																	2823318		2003	4192	6195	2810725	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9262C>T	8.37:g.2823318G>A	ENSP00000430733:p.Pro3088Ser		2810725	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.027|8.027	0.760842|0.760842	0.15914|0.15914	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000520002;ENST00000318252;ENST00000537824|ENST00000335551	T;T|.	0.23348|.	1.91;1.91|.	5.42|5.42	3.62|3.62	0.41486|0.41486	Complement control module (2);Sushi/SCR/CCP (3);|.	0.244403|.	0.33980|.	N|.	0.004370|.	T|T	0.39600|0.39600	0.1084|0.1084	N|N	0.13235|0.13235	0.315|0.315	0.80722|0.80722	D|D	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.10451|0.10451	-1.0629|-1.0629	10|5	0.27785|.	T|.	0.31|.	.|.	12.3138|12.3138	0.54944|0.54944	0.0:0.1246:0.7341:0.1414|0.0:0.1246:0.7341:0.1414	.|.	3088;3088|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	S|F	3088;2949;3087|2504	ENSP00000430733:P3088S;ENSP00000441462:P3087S|.	ENSP00000320445:P2949S|.	P|S	-|-	1|2	0|0	CSMD1|CSMD1	2810725|2810725	1.000000|1.000000	0.71417|0.71417	0.857000|0.857000	0.33713|0.33713	0.012000|0.012000	0.07955|0.07955	3.034000|3.034000	0.49751|0.49751	0.641000|0.641000	0.30601|0.30601	-0.121000|-0.121000	0.15023|0.15023	CCG|TCC		0.428	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
SGK223	157285	hgsc.bcm.edu	37	8	8197043	8197043	+	Silent	SNP	G	G	C	rs56187292		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr8:8197043G>C	ENST00000520004.1	-	4	2529	c.2265C>G	c.(2263-2265)acC>acG	p.T755T	SGK223_ENST00000330777.4_Silent_p.T755T			Q86YV5	SG223_HUMAN		757							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.T757T(1)|p.T755T(1)									CCGTGGAGCCGGTGGTGAAGC	0.532																																					GBM(34;731 755 10259 33573 33867)												2	Substitution - coding silent(2)	ovary(2)	8											72.0	84.0	80.0					8																	8197043		2092	4206	6298	8234453	SO:0001819	synonymous_variant	0																														ENST00000520004.1:c.2265C>G	8.37:g.8197043G>C			8234453	Q8N3N5	Silent	SNP	ENST00000520004.1	37	CCDS43706.1																																																																																				0.532	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1		
GPR124	25960	hgsc.bcm.edu	37	8	37695392	37695392	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr8:37695392C>T	ENST00000412232.2	+	14	2207	c.2194C>T	c.(2194-2196)Cgc>Tgc	p.R732C	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	732	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTGCCAGCTCCGCTCCAGCCA	0.706																																																	0			8											11.0	11.0	11.0					8																	37695392		2120	4190	6310	37814550	SO:0001583	missense	25960			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2194C>T	8.37:g.37695392C>T	ENSP00000406367:p.Arg732Cys		37814550	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894676	0.52121	.	.	ENSG00000020181	ENST00000416514;ENST00000412232	T	0.69306	-0.39	5.34	5.34	0.76211	GPS domain (3);	0.512495	0.20002	N	0.101311	T	0.62109	0.2401	L	0.46157	1.445	0.09310	N	1	D	0.56287	0.975	P	0.45138	0.471	T	0.60915	-0.7168	10	0.52906	T	0.07	-22.3837	11.1401	0.48398	0.1333:0.7212:0.1454:0.0	.	732	Q96PE1	GP124_HUMAN	C	725;732	ENSP00000406367:R732C	ENSP00000406367:R732C	R	+	1	0	GPR124	37814550	0.239000	0.23836	0.975000	0.42487	0.951000	0.60555	2.629000	0.46485	2.520000	0.84964	0.603000	0.83216	CGC		0.706	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2		
PREX2	80243	hgsc.bcm.edu	37	8	69017380	69017380	+	Intron	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr8:69017380C>T	ENST00000288368.4	+	24	2992				PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2						adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TAGGTTCAAGCTTCAGAAAGG	0.428																																																	0			8											145.0	132.0	137.0					8																	69017380		2203	4300	6503	69179934	SO:0001627	intron_variant	80243			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2716-2964C>T	8.37:g.69017380C>T			69179934	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	3.501	-0.101731	0.06967	.	.	ENSG00000046889	ENST00000354677	.	.	.	2.43	1.25	0.21368	.	.	.	.	.	T	0.18923	0.0454	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.24584	-1.0156	7	0.21014	T	0.42	.	4.2285	0.10592	0.0:0.17:0.0:0.83	.	908	Q70Z35-3	.	V	908	.	ENSP00000346707:A908V	A	+	2	0	PREX2	69179934	0.009000	0.17119	0.001000	0.08648	0.008000	0.06430	0.781000	0.26774	0.380000	0.24823	-0.350000	0.07774	GCT		0.428	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	
PKIA	5569	hgsc.bcm.edu	37	8	79510668	79510668	+	Missense_Mutation	SNP	A	A	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr8:79510668A>C	ENST00000396418.2	+	3	535	c.49A>C	c.(49-51)Aca>Cca	p.T17P	PKIA_ENST00000352966.5_Missense_Mutation_p.T17P|PKIA_ENST00000518467.1_Missense_Mutation_p.T17P	NM_006823.3|NM_181839.2	NP_006814.1|NP_862822.1	P61925	IPKA_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor alpha	17					negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP-dependent protein kinase inhibitor activity (GO:0004862)|protein kinase A catalytic subunit binding (GO:0034236)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						TTCAGGAAGAACAGGTAGAAG	0.373																																																	0			8											154.0	143.0	147.0					8																	79510668		2203	4300	6503	79673223	SO:0001583	missense	5569			S76965	CCDS6222.1	8q21.13	2014-08-12			ENSG00000171033	ENSG00000171033			9017	protein-coding gene	gene with protein product		606059		PRKACN1		1770951	Standard	NM_006823		Approved		uc003ybb.3	P61925	OTTHUMG00000164618	ENST00000396418.2:c.49A>C	8.37:g.79510668A>C	ENSP00000379696:p.Thr17Pro		79673223	P04541|Q6IAV2	Missense_Mutation	SNP	ENST00000396418.2	37	CCDS6222.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.314134	0.60414	.	.	ENSG00000171033	ENST00000396418;ENST00000352966;ENST00000518467	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.79034	0.4378	.	.	.	0.58432	D	0.999998	D	0.76494	0.999	D	0.81914	0.995	T	0.80441	-0.1381	7	.	.	.	.	15.4408	0.75181	1.0:0.0:0.0:0.0	.	17	P61925	IPKA_HUMAN	P	17	.	.	T	+	1	0	PKIA	79673223	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.976000	0.63785	2.045000	0.60652	0.477000	0.44152	ACA		0.373	PKIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379420.1		
DCAF4L2	138009	hgsc.bcm.edu	37	8	88885308	88885308	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr8:88885308C>A	ENST00000319675.3	-	1	988	c.892G>T	c.(892-894)Gac>Tac	p.D298Y		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	298										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCCCTCAAGTCCCACAGCTTG	0.498																																																	0			8											107.0	96.0	100.0					8																	88885308		2203	4300	6503	88954424	SO:0001583	missense	0			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.892G>T	8.37:g.88885308C>A	ENSP00000316496:p.Asp298Tyr		88954424		Missense_Mutation	SNP	ENST00000319675.3	37	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418558	0.62622	.	.	ENSG00000176566	ENST00000319675	T	0.79141	-1.24	1.92	0.928	0.19443	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88213	0.6376	M	0.92880	3.355	0.43667	D	0.996094	D	0.89917	1.0	D	0.97110	1.0	D	0.85693	0.1308	10	0.87932	D	0	.	7.7415	0.28843	0.0:0.7355:0.2644:0.0	.	298	Q8NA75	DC4L2_HUMAN	Y	298	ENSP00000316496:D298Y	ENSP00000316496:D298Y	D	-	1	0	DCAF4L2	88954424	1.000000	0.71417	0.110000	0.21437	0.626000	0.37791	2.460000	0.45031	-0.111000	0.12001	0.467000	0.42956	GAC		0.498	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	
MMP16	4325	hgsc.bcm.edu	37	8	89128758	89128758	+	Missense_Mutation	SNP	C	C	T	rs138174209		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr8:89128758C>T	ENST00000286614.6	-	6	1342	c.1061G>A	c.(1060-1062)cGt>cAt	p.R354H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	354					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	CATCTCACGACGAAGAATAGC	0.433																																																	0			8						C	HIS/ARG	0,4406		0,0,2203	90.0	88.0	89.0		1061	5.7	1.0	8	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense	MMP16	NM_005941.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	354/608	89128758	1,13005	2203	4300	6503	89197874	SO:0001583	missense	4325			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1061G>A	8.37:g.89128758C>T	ENSP00000286614:p.Arg354His		89197874	B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901394	0.92035	0.0	1.16E-4	ENSG00000156103	ENST00000286614	T	0.10382	2.88	5.73	5.73	0.89815	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	T	0.60652	-0.7221	10	0.87932	D	0	.	20.2786	0.98501	0.0:1.0:0.0:0.0	.	354;354	P51512-2;P51512	.;MMP16_HUMAN	H	354	ENSP00000286614:R354H	ENSP00000286614:R354H	R	-	2	0	MMP16	89197874	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.868000	0.98415	0.557000	0.71058	CGT		0.433	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941	
RSPO2	340419	hgsc.bcm.edu	37	8	108970482	108970482	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr8:108970482C>T	ENST00000276659.5	-	5	1062	c.442G>A	c.(442-444)Ggt>Agt	p.G148S	RSPO2_ENST00000378439.2_Missense_Mutation_p.G84S|RSPO2_ENST00000517781.1_Missense_Mutation_p.G84S|RSPO2_ENST00000517939.1_Missense_Mutation_p.G81S	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	148	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.G148S(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CTCCAATGACCAACTTCACAT	0.368																																																	1	Substitution - Missense(1)	ovary(1)	8											108.0	105.0	106.0					8																	108970482		2203	4300	6503	109039658	SO:0001583	missense	340419			AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.442G>A	8.37:g.108970482C>T	ENSP00000276659:p.Gly148Ser		109039658	B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310107	0.60414	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502;ENST00000521757	D;D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-1.99;-1.99;-2.71	5.81	5.81	0.92471	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.89238	0.6658	N	0.05619	-0.005	0.80722	D	1	D;P	0.89917	1.0;0.873	D;P	0.91635	0.999;0.543	D	0.83418	0.0031	10	0.06494	T	0.89	-2.6947	20.4375	0.99097	0.0:1.0:0.0:0.0	.	148;84	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	S	81;84;84;148;81;81	ENSP00000428940:G81S;ENSP00000427937:G84S;ENSP00000367698:G84S;ENSP00000276659:G148S;ENSP00000428614:G81S;ENSP00000430485:G81S	ENSP00000276659:G148S	G	-	1	0	RSPO2	109039658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.711000	0.68400	2.906000	0.99361	0.655000	0.94253	GGT		0.368	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565	
KCNV1	27012	hgsc.bcm.edu	37	8	110980326	110980326	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr8:110980326G>T	ENST00000524391.1	-	4	2526	c.1494C>A	c.(1492-1494)ttC>ttA	p.F498L	KCNV1_ENST00000297404.1_Missense_Mutation_p.F498L			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	498					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TTCAAAACCAGAAATCATCTC	0.383																																																	0			8											53.0	53.0	53.0					8																	110980326		2203	4300	6503	111049502	SO:0001583	missense	27012			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1494C>A	8.37:g.110980326G>T	ENSP00000435954:p.Phe498Leu		111049502	Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586789	0.46110	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97161	-4.27;-4.27	5.4	3.58	0.41010	.	0.157757	0.44285	D	0.000461	D	0.90621	0.7059	N	0.12182	0.205	0.44694	D	0.997689	B	0.10296	0.003	B	0.04013	0.001	D	0.86025	0.1509	10	0.54805	T	0.06	.	5.9963	0.19495	0.2944:0.0:0.7056:0.0	.	498	Q6PIU1	KCNV1_HUMAN	L	498;498;374	ENSP00000435954:F498L;ENSP00000297404:F498L	ENSP00000297404:F498L	F	-	3	2	KCNV1	111049502	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.407000	0.34657	2.513000	0.84729	0.563000	0.77884	TTC		0.383	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379	
FAM135B	51059	hgsc.bcm.edu	37	8	139144881	139144881	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr8:139144881G>T	ENST00000395297.1	-	20	4346	c.4176C>A	c.(4174-4176)ttC>ttA	p.F1392L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1392										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACTTCTCCAGGAAGAGTTCTG	0.527										HNSCC(54;0.14)																																							0			8											178.0	186.0	183.0					8																	139144881		1954	4149	6103	139214063	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4176C>A	8.37:g.139144881G>T	ENSP00000378710:p.Phe1392Leu		139214063	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283436	0.80803	.	.	ENSG00000147724	ENST00000395297	T	0.22539	1.95	5.74	5.74	0.90152	.	0.059495	0.64402	D	0.000002	T	0.40119	0.1104	L	0.41492	1.28	0.80722	D	1	D	0.69078	0.997	D	0.70716	0.97	T	0.09552	-1.0669	10	0.87932	D	0	-24.7186	18.9188	0.92516	0.0:0.0:1.0:0.0	.	1392	Q49AJ0	F135B_HUMAN	L	1392	ENSP00000378710:F1392L	ENSP00000378710:F1392L	F	-	3	2	FAM135B	139214063	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	5.806000	0.69150	2.732000	0.93576	0.591000	0.81541	TTC		0.527	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
ZNF707	286075	hgsc.bcm.edu	37	8	144776109	144776109	+	Silent	SNP	A	A	G	rs11786757	byFrequency	TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr8:144776109A>G	ENST00000532205.1	+	8	1424	c.525A>G	c.(523-525)tcA>tcG	p.S175S	ZNF707_ENST00000418203.2_Silent_p.S175S|ZNF707_ENST00000532158.1_Silent_p.S175S|RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000358656.4_Silent_p.S175S|ZNF707_ENST00000454097.1_Silent_p.S175S			Q96C28	ZN707_HUMAN	zinc finger protein 707	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TAGAGCTGTCATTCATCTGCG	0.687													G|||	4971	0.992612	0.9728	0.9986	5008	,	,		13844	1.0		1.0	False		,,,				2504	1.0																0			8						G	,,	4076,80		1998,80,0	12.0	15.0	14.0		525,525,525	-4.1	0.0	8	dbSNP_120	14	8401,1		4200,1,0	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF707	NM_001100598.1,NM_001100599.1,NM_173831.3	,,	6198,81,0	GG,GA,AA		0.0119,1.9249,0.645	,,	175/372,175/372,175/372	144776109	12477,81	2078	4201	6279	144848097	SO:0001819	synonymous_variant	286075			AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.525A>G	8.37:g.144776109A>G			144848097	A8K317|B3KNY1|D3DWK7	Silent	SNP	ENST00000532205.1	37	CCDS47932.1																																																																																				0.687	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831	
GRINA	2907	hgsc.bcm.edu	37	8	145066195	145066195	+	Silent	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr8:145066195C>T	ENST00000313269.5	+	4	920	c.642C>T	c.(640-642)ctC>ctT	p.L214L	GRINA_ENST00000395068.4_Silent_p.L214L	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	214						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCATCGTCCTCAGCTGTTGTG	0.557																																																	0			8											215.0	202.0	206.0					8																	145066195		2203	4300	6503	145138183	SO:0001819	synonymous_variant	2907			NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 3"""	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.642C>T	8.37:g.145066195C>T			145138183	B3KXM7|O43836|Q8IVW7	Silent	SNP	ENST00000313269.5	37	CCDS34961.1	.	.	.	.	.	.	.	.	.	.	C	8.531	0.871048	0.17322	.	.	ENSG00000178719	ENST00000534791	.	.	.	4.85	2.9	0.33743	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-39.9416	6.0982	0.20033	0.0:0.7674:0.0:0.2326	.	.	.	.	X	138	.	.	Q	+	1	0	GRINA	145138183	0.999000	0.42202	1.000000	0.80357	0.950000	0.60333	0.626000	0.24492	1.287000	0.44583	0.650000	0.86243	CAG		0.557	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1	NM_001009184	
GPR157	80045	hgsc.bcm.edu	37	1	9165567	9165567	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr1:9165567G>A	ENST00000377411.4	-	3	912	c.770C>T	c.(769-771)aCg>aTg	p.T257M	GPR157_ENST00000414642.2_Intron	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		CAGCACCGGCGTCTGCACGGC	0.652																																																	0			1											41.0	40.0	40.0					1																	9165567		2202	4296	6498	9088154	SO:0001583	missense	80045			AK022194	CCDS100.2	1p36.22	2012-08-21			ENSG00000180758	ENSG00000180758		"""GPCR / Class B : Orphans"""	23687	protein-coding gene	gene with protein product						10574461	Standard	XM_005263496		Approved	FLJ12132	uc001apq.1	Q5UAW9	OTTHUMG00000001758	ENST00000377411.4:c.770C>T	1.37:g.9165567G>A	ENSP00000366628:p.Thr257Met		9088154	A2A334|Q8WWB8|Q9HA73	Missense_Mutation	SNP	ENST00000377411.4	37	CCDS100.2	.	.	.	.	.	.	.	.	.	.	G	2.610	-0.291023	0.05568	.	.	ENSG00000180758	ENST00000377411	T	0.37752	1.18	4.67	2.7	0.31948	GPCR, family 2-like (1);	0.476448	0.24674	N	0.036538	T	0.18215	0.0437	N	0.14661	0.345	0.19300	N	0.999975	B	0.19445	0.036	B	0.21708	0.036	T	0.13953	-1.0490	10	0.34782	T	0.22	-1.1133	4.1347	0.10166	0.2027:0.0:0.5149:0.2824	.	257	Q5UAW9	GP157_HUMAN	M	257	ENSP00000366628:T257M	ENSP00000366628:T257M	T	-	2	0	GPR157	9088154	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.982000	0.29539	0.452000	0.26830	0.549000	0.68633	ACG		0.652	GPR157-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127658.2	NM_024980	
MFN2	9927	hgsc.bcm.edu	37	1	12065898	12065898	+	Silent	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr1:12065898G>A	ENST00000235329.5	+	15	1948	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	MFN2_ENST00000444836.1_Silent_p.E542E	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	542					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AAGACATTGAGTTCCATTTCT	0.532																																																	0			1											214.0	192.0	200.0					1																	12065898		2203	4300	6503	11988485	SO:0001819	synonymous_variant	9927			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1626G>A	1.37:g.12065898G>A			11988485	A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Silent	SNP	ENST00000235329.5	37	CCDS30587.1																																																																																				0.532	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874	
CSMD2	114784	hgsc.bcm.edu	37	1	34128624	34128624	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr1:34128624T>C	ENST00000373380.1	-	5	960	c.740A>G	c.(739-741)gAg>gGg	p.E247G	CSMD2_ENST00000373381.4_Missense_Mutation_p.E1374G|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1334	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AACCCCGCTCTCCACAGGCCC	0.597																																																	0			1											91.0	84.0	87.0					1																	34128624		2203	4300	6503	33901211	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.740A>G	1.37:g.34128624T>C	ENSP00000362478:p.Glu247Gly		33901211	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37		.	.	.	.	.	.	.	.	.	.	T	16.71	3.198434	0.58126	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.18502	2.21;2.21	5.39	4.25	0.50352	CUB (5);	0.174210	0.49916	D	0.000129	T	0.27489	0.0675	L	0.55213	1.73	0.80722	D	1	P;B;B	0.52170	0.951;0.019;0.004	P;B;B	0.55112	0.769;0.029;0.029	T	0.01484	-1.1343	10	0.25106	T	0.35	.	12.0952	0.53750	0.0:0.0:0.1438:0.8562	.	247;1334;1374	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	G	1374;247	ENSP00000362479:E1374G;ENSP00000362478:E247G	ENSP00000241312:E1334G	E	-	2	0	CSMD2	33901211	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	7.984000	0.88150	0.971000	0.38288	-0.488000	0.04728	GAG		0.597	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896	
HIVEP3	59269	hgsc.bcm.edu	37	1	42046815	42046815	+	Silent	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr1:42046815C>T	ENST00000372583.1	-	4	4539	c.3654G>A	c.(3652-3654)agG>agA	p.R1218R	HIVEP3_ENST00000429157.2_Silent_p.R1218R|HIVEP3_ENST00000247584.5_Silent_p.R1218R|HIVEP3_ENST00000372584.1_Silent_p.R1218R|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1218					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AAGGGGGCTGCCTGAAGGGGA	0.587																																																	0			1											68.0	68.0	68.0					1																	42046815		2203	4300	6503	41819402	SO:0001819	synonymous_variant	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3654G>A	1.37:g.42046815C>T			41819402	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	CCDS463.1																																																																																				0.587	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503	
PRKACB	5567	hgsc.bcm.edu	37	1	84644908	84644908	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr1:84644908A>G	ENST00000370689.2	+	2	359	c.95A>G	c.(94-96)gAg>gGg	p.E32G	PRKACB_ENST00000394839.2_Missense_Mutation_p.E35G|PRKACB_ENST00000370688.3_Missense_Mutation_p.E32G|PRKACB_ENST00000370685.3_Missense_Mutation_p.E79G|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000394838.2_Missense_Mutation_p.E39G|PRKACB_ENST00000370682.3_Missense_Mutation_p.E36G|PRKACB_ENST00000370680.1_Missense_Mutation_p.E38G	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	32					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		AAAAAATGGGAGAATCCAACT	0.239																																																	0			1											20.0	21.0	21.0					1																	84644908		2071	4181	6252	84417496	SO:0001583	missense	5567			BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.95A>G	1.37:g.84644908A>G	ENSP00000359723:p.Glu32Gly		84417496	B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	CCDS691.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.043924	0.55110	.	.	ENSG00000142875	ENST00000370689;ENST00000370688;ENST00000370685;ENST00000446538;ENST00000370684;ENST00000436133;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000432111;ENST00000450730;ENST00000370680;ENST00000413538;ENST00000417530;ENST00000394839	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.71817	-0.37;-0.52;-0.38;-0.03;-0.52;-0.15;-0.36;-0.36;-0.21;-0.26;-0.52;-0.24;-0.18;-0.6	4.88	4.88	0.63580	Protein kinase-like domain (1);	0.048204	0.85682	D	0.000000	T	0.75459	0.3852	L	0.58669	1.825	0.80722	D	1	B;B;B;B;B;B;B;B;P;B	0.52170	0.001;0.001;0.001;0.001;0.002;0.001;0.002;0.001;0.951;0.001	B;B;B;B;B;B;B;B;D;B	0.68765	0.004;0.001;0.004;0.003;0.004;0.009;0.007;0.003;0.96;0.006	T	0.76979	-0.2758	10	0.46703	T	0.11	-15.9751	14.4848	0.67609	1.0:0.0:0.0:0.0	.	20;39;38;35;38;36;79;79;32;32	P22694-3;B4DKB0;B1APG3;B1APG4;P22694-6;P22694-7;P22694-2;B4E2L0;P22694;P22694-8	.;.;.;.;.;.;.;.;KAPCB_HUMAN;.	G	32;32;79;39;20;36;39;36;38;28;35;38;27;19;35	ENSP00000359723:E32G;ENSP00000359722:E32G;ENSP00000359719:E79G;ENSP00000401252:E39G;ENSP00000359718:E20G;ENSP00000390906:E36G;ENSP00000378314:E39G;ENSP00000359716:E36G;ENSP00000392275:E28G;ENSP00000393654:E35G;ENSP00000359714:E38G;ENSP00000397175:E27G;ENSP00000399326:E19G;ENSP00000378315:E35G	ENSP00000359713:E38G	E	+	2	0	PRKACB	84417496	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.191000	0.94940	1.831000	0.53308	0.477000	0.44152	GAG		0.239	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948	
GBP7	388646	hgsc.bcm.edu	37	1	89616037	89616037	+	Missense_Mutation	SNP	C	C	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr1:89616037C>G	ENST00000294671.2	-	6	985	c.847G>C	c.(847-849)Gag>Cag	p.E283Q		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	283	GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AGGATTCCCTCTCTCAGGGTC	0.403																																																	0			1											89.0	91.0	90.0					1																	89616037		2203	4300	6503	89388625	SO:0001583	missense	388646			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.847G>C	1.37:g.89616037C>G	ENSP00000294671:p.Glu283Gln		89388625		Missense_Mutation	SNP	ENST00000294671.2	37	CCDS720.1	.	.	.	.	.	.	.	.	.	.	C	8.060	0.767919	0.15983	.	.	ENSG00000213512	ENST00000294671	T	0.02369	4.32	3.4	0.0418	0.14214	Guanylate-binding protein, C-terminal (3);	0.672189	0.14643	N	0.307105	T	0.02230	0.0069	M	0.85299	2.745	0.09310	N	1	B	0.27068	0.167	B	0.30716	0.119	T	0.26189	-1.0110	10	0.39692	T	0.17	.	11.8101	0.52177	0.0:0.4789:0.5211:0.0	.	283	Q8N8V2	GBP7_HUMAN	Q	283	ENSP00000294671:E283Q	ENSP00000294671:E283Q	E	-	1	0	GBP7	89388625	0.000000	0.05858	0.008000	0.14137	0.029000	0.11900	0.928000	0.28831	-0.181000	0.10619	0.411000	0.27672	GAG		0.403	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398	
BCAR3	8412	hgsc.bcm.edu	37	1	94033332	94033332	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr1:94033332A>G	ENST00000370244.1	-	12	2339	c.2051T>C	c.(2050-2052)cTg>cCg	p.L684P	BCAR3_ENST00000260502.6_Missense_Mutation_p.L684P|BCAR3_ENST00000539242.1_Missense_Mutation_p.L360P|BCAR3_ENST00000370247.3_Missense_Mutation_p.L593P|BCAR3_ENST00000370243.1_Missense_Mutation_p.L684P	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	684	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GAAGGGCTTCAGCTGTTTCTC	0.537																																																	0			1											113.0	109.0	110.0					1																	94033332		2203	4300	6503	93805920	SO:0001583	missense	8412			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2051T>C	1.37:g.94033332A>G	ENSP00000359264:p.Leu684Pro		93805920	D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	CCDS745.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.540563	0.85917	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.39	5.39	0.77823	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62845	-0.6768	10	0.87932	D	0	-20.2839	15.4037	0.74861	1.0:0.0:0.0:0.0	.	684;593	O75815;Q5TEW3	BCAR3_HUMAN;.	P	593;684;684;684;360	ENSP00000359267:L593P;ENSP00000260502:L684P;ENSP00000359264:L684P;ENSP00000359263:L684P;ENSP00000441343:L360P	ENSP00000260502:L684P	L	-	2	0	BCAR3	93805920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.918000	0.92759	2.036000	0.60181	0.459000	0.35465	CTG		0.537	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1		
PRMT6	55170	hgsc.bcm.edu	37	1	107599535	107599535	+	Silent	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr1:107599535C>T	ENST00000370078.1	+	1	235	c.198C>T	c.(196-198)cgC>cgT	p.R66R	PRMT6_ENST00000361318.5_Silent_p.R7R			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	66	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		ACCGCGTCCGCACCGATGCCT	0.637																																																	0			1											37.0	46.0	43.0					1																	107599535		2064	4176	6240	107401058	SO:0001819	synonymous_variant	55170			AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.198C>T	1.37:g.107599535C>T			107401058	A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Silent	SNP	ENST00000370078.1	37	CCDS41360.2																																																																																				0.637	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1	NM_018137	
DCAF6	55827	hgsc.bcm.edu	37	1	168032995	168032995	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr1:168032995A>G	ENST00000312263.6	+	15	2368	c.2164A>G	c.(2164-2166)Atg>Gtg	p.M722V	DCAF6_ENST00000367843.3_Missense_Mutation_p.M742V|DCAF6_ENST00000432587.2_Missense_Mutation_p.M782V|DCAF6_ENST00000367840.3_Missense_Mutation_p.M813V	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	722					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.M742V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CTCCAGGACAATGGTACCAAA	0.363																																																	1	Substitution - Missense(1)	ovary(1)	1											94.0	93.0	93.0					1																	168032995		2203	4300	6503	166299619	SO:0001583	missense	0			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.2164A>G	1.37:g.168032995A>G	ENSP00000311949:p.Met722Val		166299619	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238902	0.58995	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.084494	0.85682	D	0.000000	T	0.77718	0.4172	L	0.36672	1.1	0.46260	D	0.998956	B;B;B;P;P	0.51653	0.011;0.402;0.019;0.656;0.947	B;B;B;P;D	0.65684	0.015;0.171;0.107;0.558;0.937	T	0.75025	-0.3463	9	0.13108	T	0.6	.	15.8679	0.79080	1.0:0.0:0.0:0.0	.	782;395;813;722;742	B4DNB8;Q9P0U0;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;.;DCAF6_HUMAN;.	V	742;782;722;813	ENSP00000356817:M742V;ENSP00000396238:M782V;ENSP00000311949:M722V;ENSP00000356814:M813V	ENSP00000311949:M722V	M	+	1	0	DCAF6	166299619	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.792000	0.91856	2.166000	0.68216	0.459000	0.35465	ATG		0.363	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442	
PLA2G4A	5321	hgsc.bcm.edu	37	1	186901975	186901975	+	Silent	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr1:186901975C>T	ENST00000367466.3	+	8	791	c.639C>T	c.(637-639)taC>taT	p.Y213Y	PLA2G4A_ENST00000442353.2_Silent_p.Y153Y|PLA2G4A_ENST00000466600.1_Intron	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	213	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	AGGCATTATACGAATCAGGAA	0.423																																																	0			1											220.0	217.0	218.0					1																	186901975		2203	4300	6503	185168598	SO:0001819	synonymous_variant	5321			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.639C>T	1.37:g.186901975C>T			185168598	B1AKG4|Q29R80	Silent	SNP	ENST00000367466.3	37	CCDS1372.1																																																																																				0.423	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420	
ADORA1	134	hgsc.bcm.edu	37	1	203134556	203134556	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr1:203134556A>G	ENST00000367236.4	+	3	1430	c.509A>G	c.(508-510)gAg>gGg	p.E170G	ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.E170G|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.E170G	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	170			E -> K (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	ATCAAGTGCGAGTTCGAGAAG	0.582																																																	0			1											170.0	169.0	169.0					1																	203134556		2203	4300	6503	201401179	SO:0001583	missense	134			BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.509A>G	1.37:g.203134556A>G	ENSP00000356205:p.Glu170Gly		201401179	A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	CCDS1434.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180436	0.38511	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.37752	1.18;1.18;1.18	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.210893	0.49916	D	0.000122	T	0.32010	0.0815	L	0.37561	1.115	0.38267	D	0.942042	P;P;B	0.48998	0.601;0.918;0.001	B;B;B	0.43990	0.186;0.438;0.004	T	0.12604	-1.0541	10	0.19147	T	0.46	-26.1553	15.3381	0.74273	1.0:0.0:0.0:0.0	.	203;102;170	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	G	170	ENSP00000308549:E170G;ENSP00000356205:E170G;ENSP00000338435:E170G	ENSP00000308549:E170G	E	+	2	0	ADORA1	201401179	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.155000	0.71833	2.091000	0.63221	0.459000	0.35465	GAG		0.582	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674	
USH2A	7399	hgsc.bcm.edu	37	1	216108060	216108060	+	Missense_Mutation	SNP	C	C	T	rs370204550		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr1:216108060C>T	ENST00000307340.3	-	38	7584	c.7198G>A	c.(7198-7200)Gat>Aat	p.D2400N	USH2A_ENST00000366943.2_Missense_Mutation_p.D2400N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2400	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCAGCCCATCGATGAGCACC	0.383										HNSCC(13;0.011)																																							0			1						C	ASN/ASP	0,4406		0,0,2203	114.0	106.0	109.0		7198	-0.2	0.0	1		109	1,8599	1.2+/-3.3	0,1,4299	no	missense	USH2A	NM_206933.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2400/5203	216108060	1,13005	2203	4300	6503	214174683	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7198G>A	1.37:g.216108060C>T	ENSP00000305941:p.Asp2400Asn		214174683	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	7.561	0.664722	0.14710	0.0	1.16E-4	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53640	0.61;0.61	5.81	-0.184	0.13280	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.937593	0.08792	N	0.893118	T	0.27832	0.0685	N	0.25144	0.715	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.23332	-1.0191	10	0.17369	T	0.5	.	5.0014	0.14266	0.0:0.2351:0.177:0.5879	.	2400	O75445	USH2A_HUMAN	N	2400	ENSP00000305941:D2400N;ENSP00000355910:D2400N	ENSP00000305941:D2400N	D	-	1	0	USH2A	214174683	0.000000	0.05858	0.000000	0.03702	0.796000	0.44982	-0.034000	0.12225	0.054000	0.16065	-0.136000	0.14681	GAT		0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
TRIM67	440730	hgsc.bcm.edu	37	1	231344753	231344753	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr1:231344753A>G	ENST00000366653.5	+	8	1880	c.1880A>G	c.(1879-1881)aAc>aGc	p.N627S	TRIM67_ENST00000444294.3_Missense_Mutation_p.N625S|TRIM67_ENST00000366652.2_Missense_Mutation_p.N627S|TRIM67_ENST00000449018.3_Missense_Mutation_p.N565S			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	627	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TCCAATGACAACCAGACAGCC	0.582																																																	0			1											89.0	98.0	95.0					1																	231344753		2155	4272	6427	229411376	SO:0001583	missense	440730			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1880A>G	1.37:g.231344753A>G	ENSP00000355613:p.Asn627Ser		229411376	Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334320	0.81801	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.79575	0.4469	M	0.76002	2.32	0.80722	D	1	P	0.45283	0.855	P	0.48334	0.574	T	0.78043	-0.2358	10	0.28530	T	0.3	.	16.3197	0.82945	1.0:0.0:0.0:0.0	.	627	Q6ZTA4	TRI67_HUMAN	S	625;627;565;627	ENSP00000412124:N625S;ENSP00000355612:N627S;ENSP00000400163:N565S;ENSP00000355613:N627S	ENSP00000355612:N627S	N	+	2	0	TRIM67	229411376	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.185000	0.94900	2.302000	0.77476	0.533000	0.62120	AAC		0.582	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342	
RYR2	6262	hgsc.bcm.edu	37	1	237433800	237433800	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr1:237433800G>A	ENST00000366574.2	+	2	369	c.52G>A	c.(52-54)Gat>Aat	p.D18N	RYR2_ENST00000360064.6_Missense_Mutation_p.M15I|RYR2_ENST00000542537.1_Missense_Mutation_p.D2N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	18					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTGCAGGATGATGAAGTGGT	0.428																																																	0			1											82.0	75.0	77.0					1																	237433800		1928	4143	6071	235500423	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.52G>A	1.37:g.237433800G>A	ENSP00000355533:p.Asp18Asn		235500423	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.809555|4.809555	0.90707|0.90707	.|.	.|.	ENSG00000198626|ENSG00000198626	ENST00000366574;ENST00000542537|ENST00000360064	D;D|D	0.99105|0.96104	-5.43;-5.43|-3.91	3.92|3.92	3.92|3.92	0.45320|0.45320	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);|.	.|0.574888	.|0.13040	.|U	.|0.418617	D|D	0.97455|0.97455	0.9167|0.9167	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D|.	0.56287|.	0.975|.	P|.	0.57371|.	0.819|.	D|D	0.97718|0.97718	1.0195|1.0195	9|8	0.87932|0.87932	D|D	0|0	.|.	16.139|16.139	0.81512|0.81512	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	18|.	Q92736|.	RYR2_HUMAN|.	N|I	18;2|15	ENSP00000355533:D18N;ENSP00000443798:D2N|ENSP00000353174:M15I	ENSP00000355533:D18N|ENSP00000353174:M15I	D|M	+|+	1|3	0|0	RYR2|RYR2	235500423|235500423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	9.493000|9.493000	0.97960|0.97960	2.014000|2.014000	0.59158|0.59158	0.453000|0.453000	0.30009|0.30009	GAT|ATG		0.428	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
OR2W3	343171	hgsc.bcm.edu	37	1	248059483	248059483	+	Missense_Mutation	SNP	G	G	A	rs61756679	byFrequency	TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr1:248059483G>A	ENST00000360358.3	+	1	595	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	OR2W3_ENST00000537741.1_Missense_Mutation_p.V199I	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V199I(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CGAAGGCACCGTCTTTGTCCT	0.587													G|||	49	0.00978435	0.034	0.0043	5008	,	,		20640	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	large_intestine(1)	1						G	ILE/VAL	110,4296	84.4+/-122.9	4,102,2097	165.0	144.0	151.0		595	3.4	0.0	1	dbSNP_129	151	2,8598	2.2+/-6.3	0,2,4298	yes	missense	OR2W3	NM_001001957.2	29	4,104,6395	AA,AG,GG		0.0233,2.4966,0.8611	benign	199/315	248059483	112,12894	2203	4300	6503	246126106	SO:0001583	missense	343171			N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.595G>A	1.37:g.248059483G>A	ENSP00000353516:p.Val199Ile		246126106	Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	CCDS31099.1	16	0.007326007326007326	13	0.026422764227642278	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	G	5.486	0.274665	0.10403	0.024966	2.33E-4	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00123	8.7;8.7	5.29	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.233518	0.30028	N	0.010584	T	0.00039	0.0001	N	0.13043	0.29	0.09310	N	1	B	0.19073	0.033	B	0.18263	0.021	T	0.21177	-1.0253	10	0.48119	T	0.1	.	6.2746	0.20973	0.2268:0.136:0.6372:0.0	rs61756679	199	Q7Z3T1	OR2W3_HUMAN	I	199	ENSP00000445853:V199I;ENSP00000353516:V199I	ENSP00000353516:V199I	V	+	1	0	OR2W3	246126106	0.000000	0.05858	0.049000	0.19019	0.091000	0.18340	-0.014000	0.12656	0.812000	0.34326	0.609000	0.83330	GTC		0.587	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957	
ACCSL	390110	hgsc.bcm.edu	37	11	44069885	44069885	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr11:44069885A>G	ENST00000378832.1	+	1	355	c.299A>G	c.(298-300)gAc>gGc	p.D100G		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	100					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CCTTCTGAGGACTCTAGGGGT	0.562																																																	0			11											82.0	85.0	84.0					11																	44069885		1958	4153	6111	44026461	SO:0001583	missense	390110				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.299A>G	11.37:g.44069885A>G	ENSP00000368109:p.Asp100Gly		44026461		Missense_Mutation	SNP	ENST00000378832.1	37	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	A	9.850	1.193305	0.22037	.	.	ENSG00000205126	ENST00000378832	T	0.69435	-0.4	4.67	0.695	0.18070	.	1.293030	0.04967	N	0.463128	T	0.47893	0.1470	N	0.16743	0.435	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25676	-1.0125	10	0.25751	T	0.34	-4.0406	5.4707	0.16668	0.6805:0.1465:0.1731:0.0	.	100	Q4AC99	1A1L2_HUMAN	G	100	ENSP00000368109:D100G	ENSP00000368109:D100G	D	+	2	0	ACCSL	44026461	0.001000	0.12720	0.004000	0.12327	0.036000	0.12997	0.846000	0.27682	0.245000	0.21373	0.533000	0.62120	GAC		0.562	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854	
OR5D14	219436	hgsc.bcm.edu	37	11	55563351	55563351	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr11:55563351G>T	ENST00000335605.1	+	1	320	c.320G>T	c.(319-321)tGc>tTc	p.C107F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTCCTGTCCTGCACTGCTGTG	0.478																																																	0			11											131.0	107.0	115.0					11																	55563351		2200	4296	6496	55319927	SO:0001583	missense	219436			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.320G>T	11.37:g.55563351G>T	ENSP00000334456:p.Cys107Phe		55319927	Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	g	11.26	1.585004	0.28268	.	.	ENSG00000186113	ENST00000335605	T	0.00623	6.15	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000143	T	0.01454	0.0047	N	0.25825	0.765	0.32888	D	0.511519	P	0.48503	0.911	P	0.55667	0.781	T	0.60515	-0.7248	10	0.66056	D	0.02	-19.9727	17.0729	0.86579	0.0:0.0:1.0:0.0	.	107	Q8NGL3	OR5DE_HUMAN	F	107	ENSP00000334456:C107F	ENSP00000334456:C107F	C	+	2	0	OR5D14	55319927	0.000000	0.05858	0.143000	0.22291	0.016000	0.09150	0.157000	0.16402	2.363000	0.80096	0.643000	0.83706	TGC		0.478	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735	
VWCE	220001	hgsc.bcm.edu	37	11	61039219	61039219	+	Silent	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr11:61039219G>A	ENST00000335613.5	-	14	2099	c.1713C>T	c.(1711-1713)gaC>gaT	p.D571D	VWCE_ENST00000535710.1_Silent_p.D36D	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	571	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCCCGTTGTCGTCAAGAGAGC	0.532																																																	0			11											112.0	83.0	93.0					11																	61039219		2203	4299	6502	60795795	SO:0001819	synonymous_variant	220001			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1713C>T	11.37:g.61039219G>A			60795795	A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	ENST00000335613.5	37	CCDS8002.1																																																																																				0.532	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718	
AHNAK	79026	hgsc.bcm.edu	37	11	62299723	62299723	+	Silent	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr11:62299723C>T	ENST00000378024.4	-	5	2440	c.2166G>A	c.(2164-2166)ctG>ctA	p.L722L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	722					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTTCTCCTTCCAGCTTTGGTA	0.463																																																	0			11											266.0	235.0	245.0					11																	62299723		2202	4299	6501	62056299	SO:0001819	synonymous_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2166G>A	11.37:g.62299723C>T			62056299	A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																				0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
CD248	57124	hgsc.bcm.edu	37	11	66083290	66083290	+	Silent	SNP	C	C	T	rs186642249	byFrequency	TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr11:66083290C>T	ENST00000311330.3	-	1	1225	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	403	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						CAAAGTCAGGCGGCTGCGTAG	0.632													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		17975	0.0		0.0	False		,,,				2504	0.0																0			11											80.0	80.0	80.0					11																	66083290		2200	4295	6495	65839866	SO:0001819	synonymous_variant	57124			AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1209G>A	11.37:g.66083290C>T			65839866	Q2M2V5|Q3SX55|Q96KB6	Silent	SNP	ENST00000311330.3	37	CCDS8134.1																																																																																				0.632	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404	
NUMA1	4926	hgsc.bcm.edu	37	11	71726901	71726901	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr11:71726901G>A	ENST00000393695.3	-	15	1979	c.1648C>T	c.(1648-1650)Cgc>Tgc	p.R550C	NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.R550C	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						ACCTGGTGGCGGAGGCCCTGG	0.597			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0			11											161.0	157.0	159.0					11																	71726901		2200	4293	6493	71404549	SO:0001583	missense	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.1648C>T	11.37:g.71726901G>A	ENSP00000377298:p.Arg550Cys	1132	71404549		Missense_Mutation	SNP	ENST00000393695.3	37	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586251	0.66105	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000542977;ENST00000537217	T;T;T;T	0.47177	2.64;2.65;1.43;0.85	5.82	5.82	0.92795	.	0.728694	0.13556	N	0.379112	T	0.60379	0.2264	L	0.50333	1.59	0.37277	D	0.907685	D;D;D;D	0.89917	1.0;0.995;0.987;1.0	D;P;B;D	0.65773	0.938;0.528;0.431;0.938	T	0.63585	-0.6604	10	0.87932	D	0	.	9.9669	0.41730	0.0:0.1282:0.6823:0.1895	.	556;34;550;550	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	C	550;550;113;550;550	ENSP00000351851:R550C;ENSP00000377298:R550C;ENSP00000444880:R550C;ENSP00000442936:R550C	ENSP00000351851:R550C	R	-	1	0	NUMA1	71404549	0.001000	0.12720	0.999000	0.59377	0.970000	0.65996	0.411000	0.21115	2.756000	0.94617	0.561000	0.74099	CGC		0.597	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1		
PRKRIR	5612	hgsc.bcm.edu	37	11	76062525	76062525	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr11:76062525G>T	ENST00000260045.3	-	5	1774	c.1669C>A	c.(1669-1671)Cgc>Agc	p.R557S	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	557					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R557C(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TGAGCTCTGCGGAATTTCCCA	0.398																																																	1	Substitution - Missense(1)	ovary(1)	11											29.0	25.0	27.0					11																	76062525		2065	4162	6227	75740173	SO:0001583	missense	5612			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1669C>A	11.37:g.76062525G>T	ENSP00000260045:p.Arg557Ser		75740173	A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	G	8.325	0.825135	0.16678	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	.	.	.	5.13	3.12	0.35913	Ribonuclease H-like (1);	0.324194	0.38492	N	0.001675	T	0.40670	0.1126	L	0.36672	1.1	0.37062	D	0.898103	B	0.06786	0.001	B	0.01281	0.0	T	0.30119	-0.9989	9	0.14252	T	0.57	.	7.8485	0.29440	0.1485:0.1346:0.717:0.0	.	557	O43422	P52K_HUMAN	S	382;557	.	ENSP00000260045:R557S	R	-	1	0	PRKRIR	75740173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.935000	0.40173	1.342000	0.45619	0.644000	0.83932	CGC		0.398	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705	
TRIM77	390231	hgsc.bcm.edu	37	11	89444624	89444624	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr11:89444624A>G	ENST00000398290.3	+	2	458	c.458A>G	c.(457-459)aAa>aGa	p.K153R		NM_001146162.1	NP_001139634.1	I1YAP6	TRI77_HUMAN	tripartite motif containing 77	153						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AAAAAACAGAAAAATCAAAGA	0.318																																																	0			11											46.0	45.0	46.0					11																	89444624		692	1591	2283	89084272	SO:0001583	missense	390231				CCDS60929.1	11q14.3	2014-02-17	2013-01-14	2013-01-14	ENSG00000214414	ENSG00000214414		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	34228	protein-coding gene	gene with protein product			"""tripartite motif-containing 77"", ""tripartite motif containing 77, pseudogene"""	TRIM77P			Standard	NM_001146162		Approved		uc010rtw.2	I1YAP6	OTTHUMG00000167624	ENST00000398290.3:c.458A>G	11.37:g.89444624A>G	ENSP00000474003:p.Lys153Arg		89084272		Missense_Mutation	SNP	ENST00000398290.3	37																																																																																					0.318	TRIM77-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001146162	
RBM7	10179	hgsc.bcm.edu	37	11	114276496	114276496	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr11:114276496C>T	ENST00000540163.1	+	4	1055	c.413C>T	c.(412-414)cCa>cTa	p.P138L	RBM7_ENST00000544582.1_Missense_Mutation_p.P138L|RP11-212D19.4_ENST00000544347.1_Nonsense_Mutation_p.Q136*|RBM7_ENST00000541475.1_Missense_Mutation_p.P139L|RBM7_ENST00000375490.5_Missense_Mutation_p.P139L|RBM7_ENST00000545678.1_Missense_Mutation_p.P18L			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	138					meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		TTCTCTTCTCCAGAAAATTTT	0.333																																																	0			11											91.0	88.0	89.0					11																	114276496		2201	4296	6497	113781706	SO:0001583	missense	10179			AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"""RNA binding motif (RRM) containing"""	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.413C>T	11.37:g.114276496C>T	ENSP00000439918:p.Pro138Leu		113781706	B2R6K8|Q9NUT4	Missense_Mutation	SNP	ENST00000540163.1	37	CCDS8370.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303621	0.60305	.	.	ENSG00000076053	ENST00000540163;ENST00000375490;ENST00000541475;ENST00000544582;ENST00000545678	T;T;T;T	0.35236	1.32;2.32;2.26;2.11	5.69	5.69	0.88448	.	0.102674	0.64402	D	0.000002	T	0.42988	0.1227	L	0.58101	1.795	0.80722	D	1	P;B	0.48589	0.912;0.174	P;B	0.49502	0.613;0.066	T	0.11567	-1.0582	10	0.19590	T	0.45	-6.9988	14.1696	0.65500	0.1503:0.8497:0.0:0.0	.	138;138	Q6IRX3;Q9Y580	.;RBM7_HUMAN	L	138;139;139;138;18	ENSP00000439918:P138L;ENSP00000364639:P139L;ENSP00000440949:P139L;ENSP00000440923:P138L	ENSP00000364639:P139L	P	+	2	0	RBM7	113781706	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.728000	0.62000	2.683000	0.91414	0.655000	0.94253	CCA		0.333	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090	
RNF214	257160	hgsc.bcm.edu	37	11	117105072	117105072	+	Silent	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr11:117105072C>T	ENST00000531452.1	+	2	130	c.84C>T	c.(82-84)gaC>gaT	p.D28D	RNF214_ENST00000530849.1_Silent_p.D28D|RNF214_ENST00000531287.1_Silent_p.D28D|RNF214_ENST00000300650.4_Silent_p.D28D|PCSK7_ENST00000320934.3_5'Flank	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	28							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		CCAAATCAGACGAAGGTCTCC	0.478																																																	0			11											122.0	121.0	122.0					11																	117105072		1950	4140	6090	116610282	SO:0001819	synonymous_variant	257160			AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.84C>T	11.37:g.117105072C>T			116610282	B2RUW0|B4DTD1	Silent	SNP	ENST00000531452.1	37	CCDS41720.1																																																																																				0.478	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239	
TMPRSS4	56649	hgsc.bcm.edu	37	11	117975479	117975479	+	Silent	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr11:117975479C>T	ENST00000437212.3	+	5	598	c.384C>T	c.(382-384)ttC>ttT	p.F128F	TMPRSS4_ENST00000534111.1_Silent_p.F126F|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000523251.1_Silent_p.F88F|TMPRSS4_ENST00000522824.1_Silent_p.F128F			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	128	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.F128F(1)		breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CTGCCTGTTTCGACAACTTCA	0.562																																																	1	Substitution - coding silent(1)	large_intestine(1)	11											85.0	69.0	74.0					11																	117975479		2200	4296	6496	117480689	SO:0001819	synonymous_variant	56649			AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"""Serine peptidases / Transmembrane"""	11878	protein-coding gene	gene with protein product	"""transmembrane serine protease 3"", ""membrane-type serine protease 2"", ""type II membrane serine protease"""	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.384C>T	11.37:g.117975479C>T			117480689	A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Silent	SNP	ENST00000437212.3	37	CCDS31684.1	.	.	.	.	.	.	.	.	.	.	C	7.851	0.723955	0.15439	.	.	ENSG00000137648	ENST00000517544	.	.	.	5.16	-10.3	0.00346	.	.	.	.	.	.	.	.	.	.	.	0.26574	N	0.973507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0919	0.86624	0.0:0.7006:0.0:0.2994	.	.	.	.	X	95	.	.	R	+	1	2	TMPRSS4	117480689	0.000000	0.05858	0.024000	0.17045	0.800000	0.45204	-2.832000	0.00743	-2.703000	0.00397	-0.259000	0.10710	CGA		0.562	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894	
UBASH3B	84959	hgsc.bcm.edu	37	11	122671936	122671936	+	Silent	SNP	C	C	A	rs192006566		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr11:122671936C>A	ENST00000284273.5	+	11	1866	c.1491C>A	c.(1489-1491)ccC>ccA	p.P497P		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	497	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.P497P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GTGTAGAGCCCGGCTTATTTG	0.453																																																	1	Substitution - coding silent(1)	central_nervous_system(1)	11											148.0	145.0	146.0					11																	122671936		2202	4299	6501	122177146	SO:0001819	synonymous_variant	84959			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1491C>A	11.37:g.122671936C>A			122177146	Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	CCDS31694.1																																																																																				0.453	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873	
C11orf63	79864	hgsc.bcm.edu	37	11	122805387	122805387	+	Missense_Mutation	SNP	C	C	T	rs139995595		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr11:122805387C>T	ENST00000531316.1	+	4	1330	c.1238C>T	c.(1237-1239)tCg>tTg	p.S413L	C11orf63_ENST00000227349.2_Missense_Mutation_p.S413L			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	413					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AAGCCTGAATCGATTGTGATT	0.443																																																	0			11						C	LEU/SER	1,4403	2.1+/-5.4	0,1,2201	84.0	81.0	82.0		1238	3.3	0.0	11	dbSNP_134	82	0,8598		0,0,4299	no	missense	C11orf63	NM_024806.2	145	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign	413/779	122805387	1,13001	2202	4299	6501	122310597	SO:0001583	missense	79864			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1238C>T	11.37:g.122805387C>T	ENSP00000431669:p.Ser413Leu		122310597	A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246926	0.22796	2.27E-4	0.0	ENSG00000109944	ENST00000227349;ENST00000531316	T;T	0.25250	1.81;1.81	5.46	3.35	0.38373	.	1.268610	0.05383	N	0.537583	T	0.15392	0.0371	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.15867	-1.0422	10	0.46703	T	0.11	0.0432	8.0292	0.30454	0.1671:0.7415:0.0:0.0915	.	413	Q6NUN7	CK063_HUMAN	L	413	ENSP00000227349:S413L;ENSP00000431669:S413L	ENSP00000227349:S413L	S	+	2	0	C11orf63	122310597	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	0.962000	0.29280	1.267000	0.44247	0.585000	0.79938	TCG		0.443	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806	
DHX16	8449	hgsc.bcm.edu	37	6	30632672	30632672	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr6:30632672A>G	ENST00000376442.3	-	7	1418	c.1223T>C	c.(1222-1224)cTc>cCc	p.L408P	DHX16_ENST00000376437.5_5'Flank	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	408					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						AGCAGCCAGGAGCTCCTCTCG	0.577																																																	0			6											88.0	79.0	82.0					6																	30632672		1511	2709	4220	30740651	SO:0001583	missense	8449			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1223T>C	6.37:g.30632672A>G	ENSP00000365625:p.Leu408Pro		30740651	O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.345916	0.82022	.	.	ENSG00000204560	ENST00000376442	T	0.10005	2.92	5.18	5.18	0.71444	DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.151251	0.45867	D	0.000332	T	0.44008	0.1273	H	0.99238	4.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.67397	-0.5681	10	0.87932	D	0	.	12.5698	0.56331	1.0:0.0:0.0:0.0	.	348;408	B4DZ28;O60231	.;DHX16_HUMAN	P	408	ENSP00000365625:L408P	ENSP00000365625:L408P	L	-	2	0	DHX16	30740651	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.005000	0.76323	1.959000	0.56917	0.402000	0.26972	CTC		0.577	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587	
PIM1	5292	hgsc.bcm.edu	37	6	37140933	37140933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr6:37140933C>T	ENST00000373509.5	+	5	1142	c.769C>T	c.(769-771)Cag>Tag	p.Q257*	PIM1_ENST00000468243.1_3'UTR	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	348	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TTTCTTCAGGCAGAGGGTCTC	0.498			T	BCL6	NHL																																			Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	0			6											92.0	90.0	91.0					6																	37140933		2203	4300	6503	37248911	SO:0001587	stop_gained	9361				CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"""pim-1 oncogene"""	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.769C>T	6.37:g.37140933C>T	ENSP00000362608:p.Gln257*		37248911	Q38RT9|Q5T7H7|Q96RG3	Nonsense_Mutation	SNP	ENST00000373509.5	37	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	41	9.030916	0.99042	.	.	ENSG00000137193	ENST00000373509	.	.	.	5.35	5.35	0.76521	.	0.127607	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	13.195	0.59732	0.1597:0.8403:0.0:0.0	.	.	.	.	X	257	.	ENSP00000362608:Q257X	Q	+	1	0	PIM1	37248911	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.354000	0.34056	2.660000	0.90430	0.591000	0.81541	CAG		0.498	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1		
KIAA1244	57221	hgsc.bcm.edu	37	6	138599710	138599710	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr6:138599710G>A	ENST00000251691.4	+	13	2417	c.2251G>A	c.(2251-2253)Ggt>Agt	p.G751S		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCTCTCCCACGGTGACTACTA	0.602																																																	0			6											125.0	104.0	111.0					6																	138599710		2203	4300	6503	138641403	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2251G>A	6.37:g.138599710G>A	ENSP00000251691:p.Gly751Ser		138641403		Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	2.027	-0.423256	0.04734	.	.	ENSG00000112379	ENST00000251691	T	0.39997	1.05	5.55	3.78	0.43462	SEC7-like (1);	0.928117	0.09256	N	0.827255	T	0.06690	0.0171	N	0.04746	-0.17	0.09310	N	0.999999	B	0.16603	0.018	B	0.08055	0.003	T	0.40175	-0.9577	10	0.14252	T	0.57	-11.781	6.7074	0.23258	0.1532:0.0:0.6959:0.1509	.	751	Q5TH69	BIG3_HUMAN	S	751	ENSP00000251691:G751S	ENSP00000251691:G751S	G	+	1	0	KIAA1244	138641403	0.999000	0.42202	0.020000	0.16555	0.478000	0.33099	3.329000	0.52060	0.714000	0.32081	-0.448000	0.05591	GGT		0.602	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
KIAA1244	57221	hgsc.bcm.edu	37	6	138640982	138640982	+	Silent	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr6:138640982G>A	ENST00000251691.4	+	28	4783	c.4617G>A	c.(4615-4617)ctG>ctA	p.L1539L		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCTGTGAGCTGGTGGTGGAGC	0.493																																																	0			6											127.0	119.0	121.0					6																	138640982		2203	4300	6503	138682675	SO:0001819	synonymous_variant	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.4617G>A	6.37:g.138640982G>A			138682675		Silent	SNP	ENST00000251691.4	37	CCDS5189.2																																																																																				0.493	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
RPS6KA2	6196	hgsc.bcm.edu	37	6	166952224	166952224	+	Missense_Mutation	SNP	C	C	T	rs571609144		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr6:166952224C>T	ENST00000265678.4	-	2	371	c.148G>A	c.(148-150)Ggc>Agc	p.G50S	RPS6KA2_ENST00000481261.2_5'UTR|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.G75S|RPS6KA2_ENST00000405189.3_5'UTR|RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.G58S	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	50					axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TTCTCAAAGCCCTCCTTCACA	0.532																																																	0			6											162.0	139.0	147.0					6																	166952224		2203	4300	6503	166872214	SO:0001583	missense	6196			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.148G>A	6.37:g.166952224C>T	ENSP00000265678:p.Gly50Ser		166872214	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760358	0.49468	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000507371;ENST00000506565	T;T;T;T;T	0.69806	-0.41;-0.42;-0.43;-0.27;-0.33	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71525	0.3350	L	0.52126	1.63	0.80722	D	1	B;B;D	0.69078	0.094;0.291;0.997	B;B;D	0.68765	0.048;0.159;0.96	T	0.71133	-0.4681	10	0.42905	T	0.14	.	16.9986	0.86375	0.0:1.0:0.0:0.0	.	75;58;50	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	S	50;75;58;34;75	ENSP00000265678:G50S;ENSP00000422435:G75S;ENSP00000427015:G58S;ENSP00000423114:G34S;ENSP00000425148:G75S	ENSP00000265678:G50S	G	-	1	0	RPS6KA2	166872214	1.000000	0.71417	0.001000	0.08648	0.085000	0.17905	7.201000	0.77847	2.434000	0.82447	0.655000	0.94253	GGC		0.532	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135	
TP53	7157	hgsc.bcm.edu	37	17	7574011	7574011	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr17:7574011T>C	ENST00000269305.4	-	10	1205	c.1016A>G	c.(1015-1017)gAg>gGg	p.E339G	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E339G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	339	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		E -> K (in a sporadic cancer; somatic mutation; dbSNP:rs17882252). {ECO:0000269|Ref.12}.|E -> Q (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.F338_E339>L(1)|p.I332fs*5(1)|p.?(1)|p.F338fs*6(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCGGAACATCTCGAAGCGCTC	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	12	Whole gene deletion(8)|Unknown(2)|Deletion - Frameshift(2)	bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|pancreas(2)|large_intestine(1)|stomach(1)	17											61.0	47.0	52.0					17																	7574011		2203	4300	6503	7514736	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1016A>G	17.37:g.7574011T>C	ENSP00000269305:p.Glu339Gly		7514736	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.886244	0.72410	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.96856	-4.15;-4.15	5.43	4.36	0.52297	p53, tetramerisation domain (3);	0.053822	0.64402	D	0.000001	D	0.97567	0.9203	M	0.87617	2.895	0.49687	D	0.999817	D	0.53312	0.959	P	0.59825	0.864	D	0.97202	0.9865	10	0.87932	D	0	-17.4901	9.4308	0.38608	0.0:0.0847:0.0:0.9153	.	339	P04637	P53_HUMAN	G	339;339;328	ENSP00000269305:E339G;ENSP00000391478:E339G	ENSP00000269305:E339G	E	-	2	0	TP53	7514736	1.000000	0.71417	0.943000	0.38184	0.483000	0.33249	4.976000	0.63785	0.903000	0.36546	0.459000	0.35465	GAG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
NF1	4763	hgsc.bcm.edu	37	17	29654736	29654736	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr17:29654736C>T	ENST00000358273.4	+	38	5871	c.5488C>T	c.(5488-5490)Cgc>Tgc	p.R1830C	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.R1809C	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1830	Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.R1830C(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TATCCGGACCCGCTGGGAACT	0.512			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17	GRCh37	CM077948	NF1	M							122.0	117.0	119.0					17																	29654736		2203	4300	6503	26678862	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5488C>T	17.37:g.29654736C>T	ENSP00000351015:p.Arg1830Cys		26678862	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423947	0.83667	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.96885	-4.16;-4.16;-4.16	5.8	4.76	0.60689	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.98163	0.9393	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.986;0.999	D	0.98771	1.0728	10	0.87932	D	0	.	16.746	0.85471	0.1376:0.8624:0.0:0.0	.	859;1809;1830	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	C	1830;1809;1475	ENSP00000351015:R1830C;ENSP00000348498:R1809C;ENSP00000389907:R1475C	ENSP00000348498:R1809C	R	+	1	0	NF1	26678862	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	3.737000	0.55060	2.733000	0.93635	0.650000	0.86243	CGC		0.512	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
SLC4A1	6521	hgsc.bcm.edu	37	17	42340079	42340079	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr17:42340079T>C	ENST00000262418.6	-	3	186	c.31A>G	c.(31-33)Atg>Gtg	p.M11V	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	11				M -> D (in Ref. 9; AA sequence). {ECO:0000305}.	anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCCTCCATCATGTCTTCATAA	0.592																																																	0			17											99.0	90.0	93.0					17																	42340079		2203	4300	6503	39695605	SO:0001583	missense	6521				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.31A>G	17.37:g.42340079T>C	ENSP00000262418:p.Met11Val		39695605	G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	t	6.128	0.391765	0.11581	.	.	ENSG00000004939	ENST00000262418	T	0.73047	-0.71	5.01	-1.99	0.07457	.	5.991140	0.00166	N	0.000003	T	0.40171	0.1106	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26360	-1.0105	10	0.28530	T	0.3	.	4.6905	0.12778	0.0:0.3893:0.2788:0.3319	.	11;11	E2RVJ0;P02730	.;B3AT_HUMAN	V	11	ENSP00000262418:M11V	ENSP00000262418:M11V	M	-	1	0	SLC4A1	39695605	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.188000	0.09642	-0.657000	0.05373	-0.252000	0.11476	ATG		0.592	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342	
MBTD1	54799	hgsc.bcm.edu	37	17	49272710	49272710	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr17:49272710C>A	ENST00000586178.1	-	13	1580	c.1237G>T	c.(1237-1239)Gga>Tga	p.G413*	MBTD1_ENST00000415868.1_Nonsense_Mutation_p.G413*|MBTD1_ENST00000376381.2_Intron	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	413					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			ATCAGGAATCCGTCAGCTAGC	0.388																																																	0			17											99.0	85.0	90.0					17																	49272710		2203	4300	6503	46627709	SO:0001587	stop_gained	54799			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1237G>T	17.37:g.49272710C>A	ENSP00000468304:p.Gly413*		46627709	Q6ZVU7|Q9NXU1	Nonsense_Mutation	SNP	ENST00000586178.1	37	CCDS11581.2	.	.	.	.	.	.	.	.	.	.	C	37	6.384318	0.97524	.	.	ENSG00000011258	ENST00000405860;ENST00000415868	.	.	.	5.51	5.51	0.81932	.	0.053226	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.756	0.96291	0.0:1.0:0.0:0.0	.	.	.	.	X	413	.	ENSP00000386072:G413X	G	-	1	0	MBTD1	46627709	1.000000	0.71417	0.967000	0.41034	0.792000	0.44763	7.769000	0.85360	2.735000	0.93741	0.643000	0.83706	GGA		0.388	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1		
SOX9	6662	hgsc.bcm.edu	37	17	70120229	70120229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr17:70120229C>T	ENST00000245479.2	+	3	1603	c.1231C>T	c.(1231-1233)Cag>Tag	p.Q411*		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	411					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CAGCGAGCAGCAGCAGCACTC	0.647																																					Pancreas(42;83 1041 2320 35205 39456)												0			17											194.0	181.0	186.0					17																	70120229		2203	4300	6503	67631824	SO:0001587	stop_gained	6662			S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.1231C>T	17.37:g.70120229C>T	ENSP00000245479:p.Gln411*		67631824	Q53Y80	Nonsense_Mutation	SNP	ENST00000245479.2	37	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	C	41	9.080138	0.99059	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	.	.	.	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	15.2649	0.73654	0.0:1.0:0.0:0.0	.	.	.	.	X	411;347	.	ENSP00000245479:Q411X	Q	+	1	0	SOX9	67631824	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.776000	0.47709	1.865000	0.54081	0.455000	0.32223	CAG		0.647	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346	
ADAMTS5	11096	hgsc.bcm.edu	37	21	28338138	28338138	+	Silent	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr21:28338138G>A	ENST00000284987.5	-	1	694	c.573C>T	c.(571-573)caC>caT	p.H191H		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	191					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GGGTGTAGACGTGCAGGATCC	0.701																																					Esophageal Squamous(53;683 1080 10100 14424 45938)												0			21											19.0	22.0	21.0					21																	28338138		2198	4292	6490	27260009	SO:0001819	synonymous_variant	11096			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.573C>T	21.37:g.28338138G>A			27260009	Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	CCDS13579.1																																																																																				0.701	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1		
KRTAP6-2	337967	hgsc.bcm.edu	37	21	31971163	31971163	+	Missense_Mutation	SNP	C	C	T	rs533416500	byFrequency	TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr21:31971163C>T	ENST00000334897.3	-	1	56	c.31G>A	c.(31-33)Ggc>Agc	p.G11S	KRTAP22-1_ENST00000334680.2_5'Flank	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	11						intermediate filament (GO:0005882)				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						CCATGGTCGCCGTAGTAGTTT	0.532																																																	0			21											203.0	166.0	178.0					21																	31971163		2203	4300	6503	30893034	SO:0001583	missense	337967			AP001708	CCDS13600.1	21q22.1	2011-02-10			ENSG00000186930	ENSG00000186930		"""Keratin associated proteins"""	18932	protein-coding gene	gene with protein product						12359730	Standard	NM_181604		Approved	KAP6.2	uc011adc.2	Q3LI66	OTTHUMG00000057794	ENST00000334897.3:c.31G>A	21.37:g.31971163C>T	ENSP00000334560:p.Gly11Ser		30893034		Missense_Mutation	SNP	ENST00000334897.3	37	CCDS13600.1	.	.	.	.	.	.	.	.	.	.	C	7.934	0.741225	0.15642	.	.	ENSG00000186930	ENST00000334897	T	0.13657	2.57	4.37	3.48	0.39840	.	0.000000	0.39083	U	0.001475	T	0.30854	0.0778	.	.	.	0.26135	N	0.980351	D	0.89917	1.0	D	0.76071	0.987	T	0.02713	-1.1120	9	0.87932	D	0	.	8.4889	0.33089	0.0:0.896:0.0:0.104	.	11	Q3LI66	KRA62_HUMAN	S	11	ENSP00000334560:G11S	ENSP00000334560:G11S	G	-	1	0	KRTAP6-2	30893034	0.998000	0.40836	0.988000	0.46212	0.029000	0.11900	2.980000	0.49321	1.450000	0.47717	0.650000	0.86243	GGC		0.532	KRTAP6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128246.3		
SYNJ1	8867	hgsc.bcm.edu	37	21	34011222	34011222	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr21:34011222G>T	ENST00000322229.7	-	30	3910	c.3911C>A	c.(3910-3912)cCg>cAg	p.P1304Q	SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1343Q|SYNJ1_ENST00000382491.3_Missense_Mutation_p.P1257Q|SYNJ1_ENST00000382499.2_Missense_Mutation_p.P1343Q|SYNJ1_ENST00000357345.3_Missense_Mutation_p.P1288Q			O43426	SYNJ1_HUMAN	synaptojanin 1	1304	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACTTACTTGCGGTTGTGAGGA	0.408																																																	0			21											190.0	196.0	194.0					21																	34011222		2203	4300	6503	32933093	SO:0001583	missense	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3911C>A	21.37:g.34011222G>T	ENSP00000322234:p.Pro1304Gln		32933093	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.373|1.373	-0.585544|-0.585544	0.03827|0.03827	.|.	.|.	ENSG00000159082|ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229|ENST00000418301	D;D;D;D;D|.	0.92647|.	-2.29;-3.06;-3.08;-2.27;-2.27|.	5.45|5.45	-1.3|-1.3	0.09259|0.09259	.|.	0.600804|.	0.17448|.	N|.	0.173869|.	T|T	0.22399|0.22399	0.0540|0.0540	N|N	0.24115|0.24115	0.695|0.695	0.20196|0.20196	N|N	0.999928|0.999928	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.04013|.	0.0;0.001;0.001;0.001;0.001|.	T|T	0.29941|0.29941	-0.9995|-0.9995	10|5	0.24483|.	T|.	0.36|.	.|.	6.8562|6.8562	0.24042|0.24042	0.133:0.0:0.3591:0.5079|0.133:0.0:0.3591:0.5079	.|.	1257;1343;1304;1304;1288|.	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4|.	.;.;.;SYNJ1_HUMAN;.|.	Q|S	1257;1288;1343;1343;1304|125	ENSP00000371931:P1257Q;ENSP00000349903:P1288Q;ENSP00000371939:P1343Q;ENSP00000409667:P1343Q;ENSP00000322234:P1304Q|.	ENSP00000322234:P1304Q|.	P|R	-|-	2|1	0|0	SYNJ1|SYNJ1	32933093|32933093	0.420000|0.420000	0.25457|0.25457	0.009000|0.009000	0.14445|0.14445	0.073000|0.073000	0.16967|0.16967	0.567000|0.567000	0.23608|0.23608	-0.385000|-0.385000	0.07833|0.07833	-0.768000|-0.768000	0.03414|0.03414	CCG|CGC		0.408	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
DYRK1A	1859	hgsc.bcm.edu	37	21	38877658	38877658	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr21:38877658C>T	ENST00000398960.2	+	9	1387	c.1312C>T	c.(1312-1314)Cgt>Tgt	p.R438C	DYRK1A_ENST00000455387.2_Missense_Mutation_p.R210C|DYRK1A_ENST00000451934.1_Missense_Mutation_p.R438C|DYRK1A_ENST00000339659.4_Missense_Mutation_p.R429C|DYRK1A_ENST00000398956.2_Missense_Mutation_p.R438C|DYRK1A_ENST00000338785.3_Missense_Mutation_p.R438C|DYRK1A_ENST00000321219.8_Missense_Mutation_p.R438C	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	438	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TGGTGGGCGACGTGCTGGGGA	0.458																																					Melanoma(114;464 1602 31203 43785 45765)												0			21											89.0	85.0	86.0					21																	38877658		2203	4300	6503	37799528	SO:0001583	missense	1859			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1312C>T	21.37:g.38877658C>T	ENSP00000381932:p.Arg438Cys		37799528	O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704997	0.68615	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.83	4.95	0.65309	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	0.85682	D	0.000000	T	0.64907	0.2641	M	0.76727	2.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.997;0.997;0.998;0.994;0.997	T	0.69903	-0.5019	10	0.87932	D	0	.	14.9888	0.71371	0.0:0.9318:0.0:0.0682	.	438;438;438;429;438	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	C	438;429;438;438;438;438;210	ENSP00000342690:R438C;ENSP00000340373:R429C;ENSP00000319032:R438C;ENSP00000416089:R438C;ENSP00000381932:R438C;ENSP00000381929:R438C;ENSP00000407854:R210C	ENSP00000319032:R438C	R	+	1	0	DYRK1A	37799528	1.000000	0.71417	0.898000	0.35279	0.991000	0.79684	4.640000	0.61368	1.481000	0.48307	0.650000	0.86243	CGT		0.458	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396	
ZBTB21	49854	hgsc.bcm.edu	37	21	43411346	43411346	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr21:43411346C>A	ENST00000310826.5	-	3	3042	c.2859G>T	c.(2857-2859)tgG>tgT	p.W953C	ZBTB21_ENST00000465968.1_5'Flank|ZBTB21_ENST00000398499.1_Missense_Mutation_p.W953C|ZBTB21_ENST00000398505.3_Missense_Mutation_p.W752C|ZBTB21_ENST00000398511.3_Missense_Mutation_p.W953C	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	953					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										GGAAGTGACTCCAGAGTCGAA	0.498																																																	0			21											82.0	78.0	80.0					21																	43411346		2203	4300	6503	42284415	SO:0001583	missense	49854			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2859G>T	21.37:g.43411346C>A	ENSP00000308759:p.Trp953Cys		42284415	Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820548	0.71028	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.72	5.72	0.89469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	N	0.02247	-0.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.56914	-0.7900	10	0.52906	T	0.07	-16.1764	19.8946	0.96949	0.0:1.0:0.0:0.0	.	752;953	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	C	752;953;953;953	ENSP00000381517:W752C;ENSP00000308759:W953C;ENSP00000381512:W953C;ENSP00000381523:W953C	ENSP00000308759:W953C	W	-	3	0	ZNF295	42284415	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.288000	0.78691	2.711000	0.92665	0.655000	0.94253	TGG		0.498	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727	
ACSM5	54988	hgsc.bcm.edu	37	16	20448652	20448652	+	Missense_Mutation	SNP	C	C	T	rs533116284	byFrequency	TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr16:20448652C>T	ENST00000331849.4	+	12	1646	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L	CTD-2194A8.2_ENST00000574654.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	500					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GTCCTGGAGTCGGCTGTGGTC	0.567													C|||	2	0.000399361	0.0	0.0	5008	,	,		17823	0.0		0.0	False		,,,				2504	0.002																0			16											57.0	58.0	58.0					16																	20448652		2203	4300	6503	20356153	SO:0001583	missense	54988				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1499C>T	16.37:g.20448652C>T	ENSP00000327916:p.Ser500Leu		20356153	Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824155	0.71143	.	.	ENSG00000183549	ENST00000331849	T	0.57436	0.4	4.89	2.82	0.32997	AMP-dependent synthetase/ligase (1);	0.222920	0.31909	N	0.006877	T	0.65852	0.2731	M	0.87180	2.865	0.33374	D	0.573922	P	0.43909	0.821	P	0.48189	0.57	T	0.79463	-0.1793	10	0.87932	D	0	-4.9349	14.0894	0.64980	0.0:0.7265:0.2735:0.0	.	500	Q6NUN0	ACSM5_HUMAN	L	500	ENSP00000327916:S500L	ENSP00000327916:S500L	S	+	2	0	ACSM5	20356153	0.969000	0.33509	0.981000	0.43875	0.736000	0.42039	2.313000	0.43735	0.516000	0.28340	0.650000	0.86243	TCG		0.567	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888	
SCNN1G	6340	hgsc.bcm.edu	37	16	23205522	23205522	+	Silent	SNP	T	T	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr16:23205522T>C	ENST00000300061.2	+	5	983	c.840T>C	c.(838-840)caT>caC	p.H280H	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	280					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ACCCGATGCATGGGAATTGCT	0.488																																																	0			16											114.0	109.0	110.0					16																	23205522		2197	4300	6497	23113023	SO:0001819	synonymous_variant	6340			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.840T>C	16.37:g.23205522T>C			23113023	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Silent	SNP	ENST00000300061.2	37	CCDS10608.1																																																																																				0.488	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039	
CPNE2	221184	hgsc.bcm.edu	37	16	57144699	57144699	+	Silent	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr16:57144699C>T	ENST00000535318.2	+	3	406	c.45C>T	c.(43-45)gcC>gcT	p.A15A	CPNE2_ENST00000565874.1_Silent_p.A15A|CPNE2_ENST00000290776.8_Silent_p.A15A|CPNE2_ENST00000537605.1_5'UTR			Q96FN4	CPNE2_HUMAN	copine II	15	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CGGGGGCAGCCCCCATGGGCC	0.647																																																	0			16											39.0	35.0	36.0					16																	57144699		2198	4299	6497	55702200	SO:0001819	synonymous_variant	221184				CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.45C>T	16.37:g.57144699C>T			55702200	Q68D19|Q719H8|Q86XP9	Silent	SNP	ENST00000535318.2	37	CCDS10774.1																																																																																				0.647	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727	
HYDIN	54768	hgsc.bcm.edu	37	16	70891663	70891663	+	Silent	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr16:70891663G>A	ENST00000393567.2	-	72	12390	c.12240C>T	c.(12238-12240)acC>acT	p.T4080T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4080					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGAGAGGTTCGGTAGTTTTGC	0.478																																																	0			16											144.0	165.0	158.0					16																	70891663		1983	4179	6162	69449164	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.12240C>T	16.37:g.70891663G>A			69449164	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.478	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
ADAMTS18	170692	hgsc.bcm.edu	37	16	77465417	77465417	+	Silent	SNP	C	C	T	rs142460481	byFrequency	TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr16:77465417C>T	ENST00000282849.5	-	3	688	c.270G>A	c.(268-270)gcG>gcA	p.A90A	ADAMTS18_ENST00000567121.1_5'UTR|RP11-449J10.1_ENST00000564358.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	90					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGGCATTCTGCGCCGATCGCT	0.478													C|||	4	0.000798722	0.003	0.0	5008	,	,		18853	0.0		0.0	False		,,,				2504	0.0																0			16						C		17,4379	24.3+/-50.5	0,17,2181	188.0	193.0	191.0		270	-9.1	0.0	16	dbSNP_134	191	0,8600		0,0,4300	no	coding-synonymous	ADAMTS18	NM_199355.2		0,17,6481	TT,TC,CC		0.0,0.3867,0.1308		90/1222	77465417	17,12979	2198	4300	6498	76022918	SO:0001819	synonymous_variant	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.270G>A	16.37:g.77465417C>T			76022918	Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	CCDS10926.1																																																																																				0.478	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
MYOM1	8736	hgsc.bcm.edu	37	18	3188881	3188881	+	Silent	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr18:3188881C>T	ENST00000356443.4	-	4	969	c.636G>A	c.(634-636)agG>agA	p.R212R	MYOM1_ENST00000261606.7_Silent_p.R212R|RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Silent_p.R212R	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	212	6 X 6 AA tandem repeats.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.R212R(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCGTGGACTGCCTGGATGCCG	0.522																																																	1	Substitution - coding silent(1)	central_nervous_system(1)	18											258.0	241.0	246.0					18																	3188881		2045	4187	6232	3178881	SO:0001819	synonymous_variant	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.636G>A	18.37:g.3188881C>T			3178881	Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	CCDS45824.1																																																																																				0.522	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
GREB1L	80000	hgsc.bcm.edu	37	18	19080103	19080103	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr18:19080103C>T	ENST00000580732.2	+	22	4186	c.3805C>T	c.(3805-3807)Cgg>Tgg	p.R1269W	GREB1L_ENST00000400483.4_3'UTR|GREB1L_ENST00000424526.1_Missense_Mutation_p.R1269W|GREB1L_ENST00000269218.6_Missense_Mutation_p.R1160W			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	1269						integral component of membrane (GO:0016021)				breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						GAGCTCCCTGCGGCCACTCCT	0.632																																																	0			18											19.0	22.0	21.0					18																	19080103		692	1591	2283	17334101	SO:0001583	missense	0			AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.3805C>T	18.37:g.19080103C>T	ENSP00000464162:p.Arg1269Trp		17334101	A4QN17|Q9H8F1	Missense_Mutation	SNP	ENST00000580732.2	37	CCDS45836.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.445937	0.63178	.	.	ENSG00000141449	ENST00000424526;ENST00000269218	T;T	0.20200	2.09;2.15	4.44	2.43	0.29744	.	0.081437	0.50627	D	0.000120	T	0.42607	0.1210	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.85130	0.87;0.996;0.997	T	0.34403	-0.9830	10	0.87932	D	0	-13.6576	6.8125	0.23812	0.4062:0.4666:0.1272:0.0	.	1160;1269;643	Q9C091-3;Q9C091;B4DDS9	.;GRB1L_HUMAN;.	W	1269;1160	ENSP00000412060:R1269W;ENSP00000269218:R1160W	ENSP00000269218:R1160W	R	+	1	2	GREB1L	17334101	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	2.283000	0.43470	1.057000	0.40506	-0.305000	0.09177	CGG		0.632	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443782.2	NM_024935	
INO80C	125476	hgsc.bcm.edu	37	18	33048591	33048591	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr18:33048591G>A	ENST00000334598.7	-	5	679	c.563C>T	c.(562-564)aCg>aTg	p.T188M	INO80C_ENST00000590757.1_Missense_Mutation_p.T91M|INO80C_ENST00000586489.1_Missense_Mutation_p.T133M|INO80C_ENST00000592173.1_Intron|RP11-322E11.6_ENST00000589258.1_Intron|RP11-322E11.5_ENST00000591141.1_lincRNA|INO80C_ENST00000441607.2_Missense_Mutation_p.T224M	NM_194281.3	NP_919257.2	Q6PI98	IN80C_HUMAN	INO80 complex subunit C	188					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						AACGATGCTCGTGGCCTTCCT	0.522																																																	0			18											121.0	125.0	124.0					18																	33048591		2203	4300	6503	31302589	SO:0001583	missense	125476				CCDS11914.1, CCDS45853.1	18q12.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000153391	ENSG00000153391		"""INO80 complex subunits"""	26994	protein-coding gene	gene with protein product	"""IES6 homolog (S. cerevisiae)"""		"""chromosome 18 open reading frame 37"""	C18orf37		16230350	Standard	NM_001098817		Approved	FLJ38183, hIes6, IES6	uc010dmt.3	Q6PI98	OTTHUMG00000132564	ENST00000334598.7:c.563C>T	18.37:g.33048591G>A	ENSP00000334473:p.Thr188Met		31302589	B4DUI4|E9PCS7|Q86WR1|Q8N994	Missense_Mutation	SNP	ENST00000334598.7	37	CCDS11914.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615070	0.87359	.	.	ENSG00000153391	ENST00000441607;ENST00000334598	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	T	0.75436	0.3849	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.951	T	0.76143	-0.3067	8	0.54805	T	0.06	.	16.7354	0.85445	0.0:0.0:1.0:0.0	.	224;188	E9PCS7;Q6PI98	.;IN80C_HUMAN	M	224;188	.	ENSP00000334473:T188M	T	-	2	0	INO80C	31302589	1.000000	0.71417	0.972000	0.41901	0.915000	0.54546	9.407000	0.97325	2.615000	0.88500	0.557000	0.71058	ACG		0.522	INO80C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255768.1	NM_194281	
VPS4B	9525	hgsc.bcm.edu	37	18	61067847	61067847	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr18:61067847T>C	ENST00000238497.5	-	6	777	c.574A>G	c.(574-576)Aac>Gac	p.N192D	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	192					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						GTTGAGTTGTTGGCTTCTGTT	0.373																																																	0			18											129.0	127.0	128.0					18																	61067847		2203	4300	6503	59218827	SO:0001583	missense	9525			AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.574A>G	18.37:g.61067847T>C	ENSP00000238497:p.Asn192Asp		59218827	Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.681649	0.47991	.	.	ENSG00000119541	ENST00000238497	D	0.92965	-3.14	6.11	6.11	0.99139	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.85221	0.5647	N	0.14661	0.345	0.80722	D	1	B;B;B	0.15141	0.012;0.012;0.012	B;B;B	0.26202	0.067;0.067;0.067	T	0.80464	-0.1371	10	0.09590	T	0.72	-28.0479	16.7021	0.85357	0.0:0.0:0.0:1.0	.	192;192;192	A8K5D8;A8K4G7;O75351	.;.;VPS4B_HUMAN	D	192	ENSP00000238497:N192D	ENSP00000238497:N192D	N	-	1	0	VPS4B	59218827	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.953000	0.87836	2.343000	0.79666	0.533000	0.62120	AAC		0.373	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869	
NETO1	81832	hgsc.bcm.edu	37	18	70526174	70526174	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr18:70526174C>T	ENST00000327305.6	-	4	1013	c.356G>A	c.(355-357)gGa>gAa	p.G119E	NETO1_ENST00000397929.1_Missense_Mutation_p.G118E|NETO1_ENST00000583169.1_Missense_Mutation_p.G119E|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Missense_Mutation_p.G118E	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	119	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATTTTGTTGTCCACAGAAACG	0.383																																																	0			18											92.0	92.0	92.0					18																	70526174		2203	4300	6503	68677154	SO:0001583	missense	81832			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.356G>A	18.37:g.70526174C>T	ENSP00000313088:p.Gly119Glu		68677154	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	32	5.111966	0.94339	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.64991	-0.13;-0.13;-0.13	5.35	5.35	0.76521	CUB (5);	0.000000	0.64402	D	0.000017	D	0.85669	0.5750	H	0.94847	3.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.89354	0.3663	10	0.87932	D	0	-16.2312	19.438	0.94806	0.0:1.0:0.0:0.0	.	118;118;119	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	E	119;118;118	ENSP00000313088:G119E;ENSP00000299430:G118E;ENSP00000381024:G118E	ENSP00000299430:G118E	G	-	2	0	NETO1	68677154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.724000	0.84798	2.672000	0.90937	0.655000	0.94253	GGA		0.383	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999	
DCLK3	85443	hgsc.bcm.edu	37	3	36779797	36779797	+	Silent	SNP	G	G	A	rs552055548		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr3:36779797G>A	ENST00000416516.2	-	2	844	c.354C>T	c.(352-354)caC>caT	p.H118H		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	118						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCCCCTTGCGTGCCTCTCTT	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18541	0.0		0.0	False		,,,				2504	0.0																0			3											136.0	138.0	137.0					3																	36779797		1881	4100	5981	36754801	SO:0001819	synonymous_variant	85443			AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.354C>T	3.37:g.36779797G>A			36754801		Silent	SNP	ENST00000416516.2	37	CCDS43064.1																																																																																				0.567	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355	
KLHL40	131377	hgsc.bcm.edu	37	3	42728220	42728220	+	Silent	SNP	C	C	T	rs201966674		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr3:42728220C>T	ENST00000287777.4	+	1	1210	c.1110C>T	c.(1108-1110)aaC>aaT	p.N370N		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	370					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											TCTTCTACAACGAAGACAACA	0.577																																																	0			3											38.0	35.0	36.0					3																	42728220		2203	4300	6503	42703224	SO:0001819	synonymous_variant	131377			AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1110C>T	3.37:g.42728220C>T			42703224	Q86SI1|Q96MR2	Silent	SNP	ENST00000287777.4	37	CCDS2703.1																																																																																				0.577	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393	
CCR3	1232	hgsc.bcm.edu	37	3	46306816	46306816	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr3:46306816T>C	ENST00000357422.2	+	4	710	c.167T>C	c.(166-168)gTg>gCg	p.V56A	CCR3_ENST00000545097.1_Missense_Mutation_p.V77A|CCR3_ENST00000541018.1_Missense_Mutation_p.V56A|CCR3_ENST00000395942.2_Missense_Mutation_p.V56A|CCR3_ENST00000395940.2_Missense_Mutation_p.V56A			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	56					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GTGGTGGTGGTGATGATCCTC	0.527																																																	0			3											156.0	126.0	136.0					3																	46306816		2203	4300	6503	46281820	SO:0001583	missense	1232			AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.167T>C	3.37:g.46306816T>C	ENSP00000350003:p.Val56Ala		46281820	B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.217981	0.58560	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000452454;ENST00000395942	T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	6.07	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.377567	0.22261	N	0.062401	D	0.86686	0.5992	M	0.88031	2.925	0.39196	D	0.963056	P;D;P;P	0.65815	0.931;0.995;0.673;0.72	P;D;B;P	0.68621	0.888;0.959;0.444;0.58	D	0.89215	0.3567	10	0.66056	D	0.02	.	11.6734	0.51415	0.0:0.0683:0.0:0.9317	.	56;56;77;56	Q8TDP5;Q8TDP6;F5GWL6;P51677	.;.;.;CCR3_HUMAN	A	56;77;56;56;56;56	ENSP00000350003:V56A;ENSP00000441600:V77A;ENSP00000440097:V56A;ENSP00000379271:V56A;ENSP00000389336:V56A;ENSP00000379273:V56A	ENSP00000350003:V56A	V	+	2	0	CCR3	46281820	1.000000	0.71417	0.908000	0.35775	0.222000	0.24845	6.270000	0.72563	2.326000	0.78906	0.533000	0.62120	GTG		0.527	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2		
ZNF717	100131827	hgsc.bcm.edu	37	3	75787812	75787812	+	Missense_Mutation	SNP	C	C	A	rs138918118|rs143242394		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr3:75787812C>A	ENST00000478296.1	-	4	1088	c.812G>T	c.(811-813)aGc>aTc	p.S271I	ZNF717_ENST00000477374.1_Intron|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000422325.1_Missense_Mutation_p.S321I|ZNF717_ENST00000400845.3_Missense_Mutation_p.S314I|ZNF717_ENST00000491507.1_Intron			Q9BY31	ZN717_HUMAN	zinc finger protein 717	314					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(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						GGACTTATAGCTGAACAATTT	0.428																																																	0			3											5.0	4.0	5.0					3																	75787812		361	825	1186	75870502	SO:0001583	missense	100131827			AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.812G>T	3.37:g.75787812C>A	ENSP00000419377:p.Ser271Ile		75870502		Missense_Mutation	SNP	ENST00000478296.1	37		.	.	.	.	.	.	.	.	.	.	.	5.759	0.324473	0.10900	.	.	ENSG00000227124	ENST00000478296;ENST00000422325;ENST00000400845	T;T;T	0.15952	2.38;2.38;2.38	1.59	-3.18	0.05186	.	.	.	.	.	T	0.08626	0.0214	L	0.35854	1.095	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.42932	-0.9422	9	0.12103	T	0.63	.	0.8041	0.01080	0.1722:0.2009:0.3434:0.2835	.	321	C9JSV9	.	I	271;321;314	ENSP00000419377:S271I;ENSP00000409514:S321I;ENSP00000383643:S314I	ENSP00000383643:S314I	S	-	2	0	ZNF717	75870502	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-8.578000	0.00019	-1.270000	0.02433	0.545000	0.68477	AGC		0.428	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223	
CLSTN2	64084	hgsc.bcm.edu	37	3	140123548	140123548	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr3:140123548A>G	ENST00000458420.3	+	4	767	c.577A>G	c.(577-579)Agc>Ggc	p.S193G	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	193	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		S -> I (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.S193C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCCACAGTACAGCCAGATCTG	0.527										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	3											142.0	120.0	127.0					3																	140123548		2203	4300	6503	141606238	SO:0001583	missense	64084			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.577A>G	3.37:g.140123548A>G	ENSP00000402460:p.Ser193Gly		141606238	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.331649	0.60853	.	.	ENSG00000158258	ENST00000458420	T	0.49139	0.79	5.66	5.66	0.87406	Cadherin (4);Cadherin-like (1);	0.090356	0.85682	D	0.000000	T	0.53818	0.1820	L	0.33189	0.99	0.58432	D	0.999991	D	0.76494	0.999	D	0.79108	0.992	T	0.46105	-0.9215	10	0.10636	T	0.68	-26.7325	13.8537	0.63513	1.0:0.0:0.0:0.0	.	193	Q9H4D0	CSTN2_HUMAN	G	193	ENSP00000402460:S193G	ENSP00000402460:S193G	S	+	1	0	CLSTN2	141606238	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.452000	0.80683	2.153000	0.67306	0.460000	0.39030	AGC		0.527	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	
GPR149	344758	hgsc.bcm.edu	37	3	154146598	154146598	+	Silent	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr3:154146598C>T	ENST00000389740.2	-	1	906	c.807G>A	c.(805-807)ccG>ccA	p.P269P		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	269					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGTCGGAGCTCGGAGAGCATC	0.667																																																	0			3											30.0	34.0	32.0					3																	154146598		1875	4114	5989	155629292	SO:0001819	synonymous_variant	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.807G>A	3.37:g.154146598C>T			155629292		Silent	SNP	ENST00000389740.2	37	CCDS43162.1																																																																																				0.667	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580	
PIK3CA	5290	hgsc.bcm.edu	37	3	178916930	178916930	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr3:178916930G>T	ENST00000263967.3	+	2	474	c.317G>T	c.(316-318)gGc>gTc	p.G106V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	106			G -> V (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity).		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G106V(6)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.G106A(1)|p.E103_G106>D(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAACCAGTAGGCAACCGTGAA	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	12	Substitution - Missense(7)|Deletion - In frame(4)|Complex - deletion inframe(1)	lung(4)|large_intestine(3)|breast(3)|endometrium(2)	3											90.0	86.0	87.0					3																	178916930		1825	4072	5897	180399624	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.317G>T	3.37:g.178916930G>T	ENSP00000263967:p.Gly106Val		180399624	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216426	0.79352	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74421	0.67;-0.84	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.86928	0.6051	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86624	0.1881	9	.	.	.	-7.432	19.4271	0.94746	0.0:0.0:1.0:0.0	.	106	P42336	PK3CA_HUMAN	V	106	ENSP00000263967:G106V;ENSP00000417479:G106V	.	G	+	2	0	PIK3CA	180399624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.563000	0.82314	2.584000	0.87258	0.555000	0.69702	GGC		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
ETV5	2119	hgsc.bcm.edu	37	3	185797727	185797727	+	Missense_Mutation	SNP	C	C	T	rs185636057	byFrequency	TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr3:185797727C>T	ENST00000306376.5	-	7	775	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	ETV5_ENST00000537818.1_Missense_Mutation_p.A219T|ETV5_ENST00000434744.1_Missense_Mutation_p.A177T|ETV5-AS1_ENST00000453370.1_RNA	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	177					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GAATGGGGGGCGGGGGCGGGG	0.622			T	"""TMPRSS2, SCL45A3"""	Prostate								C|||	4	0.000798722	0.003	0.0	5008	,	,		12942	0.0		0.0	False		,,,				2504	0.0							Dom	yes		3	3q28	2119	ets variant gene 5		E	0			3						C	THR/ALA	5,4401	9.9+/-24.2	0,5,2198	44.0	52.0	49.0		529	-2.8	0.2	3		49	0,8600		0,0,4300	yes	missense	ETV5	NM_004454.2	58	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign	177/511	185797727	5,13001	2203	4300	6503	187280421	SO:0001583	missense	2119			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.529G>A	3.37:g.185797727C>T	ENSP00000306894:p.Ala177Thr		187280421	A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	CCDS33906.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	3.837	-0.034583	0.07543	0.001135	0.0	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.09630	2.97;2.97;2.96	5.32	-2.83	0.05769	PEA3-type ETS-domain transcription factor, N-terminal (1);	2.223100	0.01467	N	0.016113	T	0.07999	0.0200	L	0.44542	1.39	0.24298	N	0.995135	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.37244	-0.9714	10	0.19590	T	0.45	.	12.5188	0.56048	0.0:0.7845:0.0:0.2155	.	177;219	P41161;B7Z7D7	ETV5_HUMAN;.	T	177;177;219	ENSP00000306894:A177T;ENSP00000413755:A177T;ENSP00000441737:A219T	ENSP00000306894:A177T	A	-	1	0	ETV5	187280421	0.000000	0.05858	0.211000	0.23655	0.133000	0.20885	-0.108000	0.10857	-0.710000	0.05001	-0.244000	0.11960	GCC		0.622	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454	
PCBP2	5094	hgsc.bcm.edu	37	12	53873204	53873204	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr12:53873204C>T	ENST00000439930.3	+	14	1098	c.1076C>T	c.(1075-1077)aCg>aTg	p.T359M	PCBP2_ENST00000548933.1_Missense_Mutation_p.T329M|PCBP2_ENST00000549863.1_Missense_Mutation_p.T315M|PCBP2_ENST00000359282.5_Missense_Mutation_p.T325M|PCBP2_ENST00000552819.1_Missense_Mutation_p.T316M|PCBP2_ENST00000359462.5_Missense_Mutation_p.T360M|PCBP2_ENST00000437231.1_Missense_Mutation_p.T312M|PCBP2_ENST00000546463.1_Missense_Mutation_p.T356M|PCBP2_ENST00000552296.2_Missense_Mutation_p.T355M|PCBP2_ENST00000447282.1_Missense_Mutation_p.T329M|PCBP2_ENST00000603815.1_Missense_Mutation_p.T359M|PCBP2_ENST00000455667.3_Missense_Mutation_p.T312M			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	359					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCCTCGGAGACGGGTGGCATG	0.478																																																	0			12											161.0	138.0	145.0					12																	53873204		2203	4300	6503	52159471	SO:0001583	missense	5094			BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.1076C>T	12.37:g.53873204C>T	ENSP00000408949:p.Thr359Met		52159471	A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	37	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949929	0.34377	.	.	ENSG00000197111	ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000379777	T;T;T;T;T;T;T;T;T;T;T	0.32515	1.49;1.49;1.48;1.47;1.48;1.46;1.45;1.87;1.49;1.48;1.49	5.18	5.18	0.71444	.	0.054625	0.64402	D	0.000001	T	0.26376	0.0644	L	0.34521	1.04	0.80722	D	1	B;B;B;P;B;B;B;B;B;B	0.45396	0.057;0.144;0.089;0.857;0.009;0.131;0.132;0.009;0.081;0.081	B;B;B;B;B;B;B;B;B;B	0.38428	0.008;0.039;0.018;0.273;0.003;0.063;0.016;0.003;0.012;0.012	T	0.06679	-1.0813	10	0.59425	D	0.04	.	17.8359	0.88697	0.0:1.0:0.0:0.0	.	316;317;359;302;329;312;355;325;360;356	B4DXP5;F8VRG9;Q15366;F8VWQ4;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;PCBP2_HUMAN;.;.;.;.;.;.;.	M	325;329;312;359;315;360;302;356;355;317;316;312;329;276	ENSP00000352228:T325M;ENSP00000394116:T329M;ENSP00000390304:T312M;ENSP00000408949:T359M;ENSP00000447670:T315M;ENSP00000352438:T360M;ENSP00000448762:T356M;ENSP00000448927:T355M;ENSP00000449070:T316M;ENSP00000388008:T312M;ENSP00000449062:T329M	ENSP00000352228:T325M	T	+	2	0	PCBP2	52159471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.637000	0.67854	2.597000	0.87782	0.563000	0.77884	ACG		0.478	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016	
DCD	117159	hgsc.bcm.edu	37	12	55038510	55038510	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr12:55038510T>C	ENST00000293371.6	-	5	509	c.320A>G	c.(319-321)gAc>gGc	p.D107G	DCD_ENST00000456047.2_3'UTR	NM_053283.2	NP_444513.1	P81605	DCD_HUMAN	dermcidin	107					defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				TAGTACTGAGTCAAGGACGTC	0.423																																																	0			12											38.0	33.0	35.0					12																	55038510		2203	4300	6503	53324777	SO:0001583	missense	117159			AF144011	CCDS8884.1, CCDS73478.1	12q13.1	2008-08-04				ENSG00000161634			14669	protein-coding gene	gene with protein product	"""proteolysis inducing factor"", ""preproteolysin"", ""diffusible survival/evasion peptide"", ""survival promoting peptide"""	606634				11694882	Standard	XM_005268627		Approved	AIDD, PIF, DSEP, HCAP, DCD-1	uc001sgj.3	P81605	OTTHUMG00000169937	ENST00000293371.6:c.320A>G	12.37:g.55038510T>C	ENSP00000293371:p.Asp107Gly		53324777	A5JHP2|A5JHP3|P58461|Q53YJ2	Missense_Mutation	SNP	ENST00000293371.6	37	CCDS8884.1	.	.	.	.	.	.	.	.	.	.	T	4.021	0.001422	0.07819	.	.	ENSG00000161634	ENST00000293371	.	.	.	2.4	-2.04	0.07343	.	.	.	.	.	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	D	0.55172	0.97	B	0.40602	0.334	T	0.15867	-1.0422	8	0.49607	T	0.09	.	3.0498	0.06166	0.0:0.2947:0.2315:0.4738	.	107	P81605	DCD_HUMAN	G	107	.	ENSP00000293371:D107G	D	-	2	0	DCD	53324777	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-0.432000	0.07297	0.460000	0.39030	GAC		0.423	DCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406617.1	NM_053283	
AGAP2-AS1	100130776	hgsc.bcm.edu	37	12	58121196	58121196	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr12:58121196G>A	ENST00000542466.2	+	2	557	c.421G>A	c.(421-423)Gcg>Acg	p.A141T	AGAP2_ENST00000257897.3_Silent_p.R653R|RP11-571M6.8_ENST00000548410.2_RNA|AGAP2_ENST00000547588.1_Silent_p.R1009R					AGAP2 antisense RNA 1																		TTTCCCACACGCGGTTGGCCG	0.672																																																	0			12											57.0	47.0	50.0					12																	58121196		2203	4299	6502	56407463	SO:0001583	missense	116986			BC039697, BC069024		12q14.1	2013-05-30			ENSG00000255737	ENSG00000255737		"""Long non-coding RNAs"""	48633	non-coding RNA	RNA, long non-coding							Standard	NR_027032		Approved				OTTHUMG00000170286	ENST00000542466.2:c.421G>A	12.37:g.58121196G>A	ENSP00000437523:p.Ala141Thr		56407463		Silent	SNP	ENST00000542466.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.84|16.84	3.233844|3.233844	0.58886|0.58886	.|.	.|.	ENSG00000255737|ENSG00000135439	ENST00000542466|ENST00000328568	.|T	.|0.46451	.|0.87	5.0|5.0	2.18|2.18	0.27775|0.27775	.|.	.|0.269566	.|0.41823	.|D	.|0.000819	T|T	0.51143|0.51143	0.1657|0.1657	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P|.	0.39624|.	0.681|.	B|.	0.26614|.	0.071|.	T|T	0.50346|0.50346	-0.8839|-0.8839	7|7	0.87932|0.72032	D|D	0|0.01	.|.	9.7483|9.7483	0.40459|0.40459	0.2232:0.0:0.7768:0.0|0.2232:0.0:0.7768:0.0	.|.	141|.	B7Z718|.	.|.	T|C	141|853	.|ENSP00000328160:R853C	ENSP00000437523:A141T|ENSP00000328160:R853C	A|R	+|-	1|1	0|0	RP11-571M6.6|AGAP2	56407463|56407463	0.913000|0.913000	0.31002|0.31002	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.232000|1.232000	0.32636|0.32636	0.245000|0.245000	0.21373|0.21373	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.672	AGAP2-AS1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000408368.1		
NAP1L1	4673	hgsc.bcm.edu	37	12	76454036	76454036	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr12:76454036C>T	ENST00000261182.8	-	5	716	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	NAP1L1_ENST00000542344.1_Missense_Mutation_p.R36Q|NAP1L1_ENST00000548044.1_Missense_Mutation_p.R36Q|NAP1L1_ENST00000431879.3_Missense_Mutation_p.R36Q|NAP1L1_ENST00000393263.3_Missense_Mutation_p.R77Q|NAP1L1_ENST00000552342.1_Missense_Mutation_p.R77Q|NAP1L1_ENST00000547773.1_Missense_Mutation_p.R14Q|NAP1L1_ENST00000547993.1_5'Flank|NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000549596.1_Missense_Mutation_p.R77Q|NAP1L1_ENST00000535020.2_Missense_Mutation_p.R77Q	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	77					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				AGCATTCACTCGTCTTTTAAC	0.378																																																	0			12											127.0	111.0	116.0					12																	76454036		2203	4300	6503	74740303	SO:0001583	missense	4673				CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.230G>A	12.37:g.76454036C>T	ENSP00000261182:p.Arg77Gln		74740303	B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819845	0.90873	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000552342;ENST00000548044;ENST00000550934;ENST00000551992;ENST00000548273;ENST00000551600;ENST00000547704;ENST00000551524;ENST00000547479	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.39	5.39	0.77823	.	0.052270	0.85682	N	0.000000	T	0.48390	0.1497	M	0.64997	1.995	0.80722	D	1	P;D;P;P;P;P;D	0.59357	0.931;0.969;0.931;0.905;0.662;0.949;0.985	P;P;P;P;P;B;P	0.53912	0.618;0.737;0.618;0.737;0.532;0.353;0.737	T	0.49495	-0.8934	10	0.87932	D	0	.	19.5142	0.95155	0.0:1.0:0.0:0.0	.	77;36;77;77;36;14;77	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	Q	77;71;77;36;14;36;77;77;77;36;77;77;36;77;77;36;103	ENSP00000261182:R77Q;ENSP00000450236:R71Q;ENSP00000376947:R77Q;ENSP00000409795:R36Q;ENSP00000448167:R14Q;ENSP00000444759:R36Q;ENSP00000445008:R77Q;ENSP00000447793:R77Q;ENSP00000447196:R77Q;ENSP00000449649:R36Q;ENSP00000448133:R77Q;ENSP00000448764:R77Q;ENSP00000446787:R36Q;ENSP00000448836:R77Q;ENSP00000446756:R77Q;ENSP00000448661:R36Q;ENSP00000449333:R103Q	ENSP00000261182:R77Q	R	-	2	0	NAP1L1	74740303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.076000	0.71267	2.678000	0.91216	0.555000	0.69702	CGA		0.378	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207	
SLC6A15	55117	hgsc.bcm.edu	37	12	85277598	85277598	+	Intron	SNP	T	T	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr12:85277598T>C	ENST00000266682.5	-	5	1298				SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000450363.3_Missense_Mutation_p.I266V	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15						amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AATCCAGAAATGGTGATTAGC	0.403																																																	0			12											83.0	76.0	79.0					12																	85277598		2203	4300	6503	83801729	SO:0001627	intron_variant	55117			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.756+39A>G	12.37:g.85277598T>C			83801729	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	T	10.34	1.323466	0.24080	.	.	ENSG00000072041	ENST00000450363	T	0.73258	-0.73	5.38	2.96	0.34315	.	.	.	.	.	T	0.51295	0.1666	N	0.16098	0.37	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.45381	-0.9265	9	0.87932	D	0	.	5.9566	0.19277	0.1457:0.0786:0.0:0.7757	.	266	Q9H9F5	.	V	266	ENSP00000390706:I266V	ENSP00000390706:I266V	I	-	1	0	SLC6A15	83801729	0.008000	0.16893	0.003000	0.11579	0.037000	0.13140	0.389000	0.20751	0.404000	0.25506	0.533000	0.62120	ATT		0.403	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767	
GABRB3	2562	hgsc.bcm.edu	37	15	26812851	26812851	+	Missense_Mutation	SNP	G	G	A	rs144496462		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr15:26812851G>A	ENST00000311550.5	-	7	823	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	GABRB3_ENST00000545868.1_Missense_Mutation_p.R153W|GABRB3_ENST00000299267.4_Missense_Mutation_p.R238W|GABRB3_ENST00000400188.3_Missense_Mutation_p.R167W|GABRB3_ENST00000541819.2_Missense_Mutation_p.R294W	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	238					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTCTTCAACCGAAAGCTCAGT	0.428																																																	0			15						G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	121.0	104.0	109.0		712,457,499,712	5.1	1.0	15	dbSNP_134	109	0,8600		0,0,4300	no	missense,missense,missense,missense	GABRB3	NM_000814.5,NM_001191320.1,NM_001191321.1,NM_021912.4	101,101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	238/474,153/389,167/403,238/474	26812851	1,13005	2203	4300	6503	24363944	SO:0001583	missense	2562				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.712C>T	15.37:g.26812851G>A	ENSP00000308725:p.Arg238Trp		24363944	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033368	0.54896	2.27E-4	0.0	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	6.06	5.08	0.68730	Neurotransmitter-gated ion-channel ligand-binding (3);	0.096499	0.64402	D	0.000001	T	0.75155	0.3811	M	0.61703	1.905	0.49687	D	0.999817	B;B;B	0.31730	0.337;0.083;0.161	B;B;B	0.21151	0.03;0.013;0.033	T	0.76586	-0.2905	10	0.87932	D	0	.	11.5757	0.50860	0.0:0.0:0.6664:0.3336	.	294;238;238	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	W	238;294;238;167;153	ENSP00000308725:R238W;ENSP00000442408:R294W;ENSP00000299267:R238W;ENSP00000383049:R167W;ENSP00000439169:R153W	ENSP00000299267:R238W	R	-	1	2	GABRB3	24363944	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.605000	0.61119	2.879000	0.98667	0.650000	0.86243	CGG		0.428	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		
SLC12A6	9990	hgsc.bcm.edu	37	15	34529012	34529012	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr15:34529012T>C	ENST00000354181.3	-	23	3431	c.2939A>G	c.(2938-2940)gAc>gGc	p.D980G	SLC12A6_ENST00000560611.1_Missense_Mutation_p.D980G|SLC12A6_ENST00000290209.5_Missense_Mutation_p.D929G|SLC12A6_ENST00000451844.2_Missense_Mutation_p.D792G|SLC12A6_ENST00000397707.2_Missense_Mutation_p.D965G|SLC12A6_ENST00000560164.1_Missense_Mutation_p.D792G|SLC12A6_ENST00000558667.1_Missense_Mutation_p.D980G|SLC12A6_ENST00000397702.2_Missense_Mutation_p.D921G|SLC12A6_ENST00000458406.2_Missense_Mutation_p.D921G|SLC12A6_ENST00000558589.1_Missense_Mutation_p.D971G			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	980					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TATATCACTGTCATGCTGCCA	0.428																																																	0			15											126.0	110.0	115.0					15																	34529012		2201	4298	6499	32316304	SO:0001583	missense	9990			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2939A>G	15.37:g.34529012T>C	ENSP00000346112:p.Asp980Gly		32316304	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654574	0.67472	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.16	5.16	0.70880	.	0.051702	0.64402	D	0.000001	T	0.58018	0.2093	M	0.84585	2.705	0.80722	D	1	P;P;P;B	0.41748	0.717;0.761;0.594;0.278	P;B;B;B	0.47864	0.559;0.354;0.356;0.15	T	0.66089	-0.6010	10	0.87932	D	0	.	14.1126	0.65132	0.0:0.0:0.0:1.0	.	965;980;929;792	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	G	929;965;971;921;921;792	ENSP00000290209:D929G;ENSP00000380819:D965G;ENSP00000380814:D921G;ENSP00000387725:D921G;ENSP00000390199:D792G	ENSP00000290209:D929G	D	-	2	0	SLC12A6	32316304	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.868000	0.87116	2.174000	0.68829	0.528000	0.53228	GAC		0.428	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135	
EXD1	161829	hgsc.bcm.edu	37	15	41476618	41476618	+	Silent	SNP	T	T	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr15:41476618T>C	ENST00000314992.5	-	10	1246	c.1056A>G	c.(1054-1056)aaA>aaG	p.K352K	EXD1_ENST00000458580.2_Silent_p.K410K	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	352							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						ATAAGAAGCCTTTGACTTTCT	0.388																																																	0			15											130.0	141.0	137.0					15																	41476618		2203	4300	6503	39263910	SO:0001819	synonymous_variant	161829			BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.1056A>G	15.37:g.41476618T>C			39263910	A8K909|B7Z839|Q6ZW94	Silent	SNP	ENST00000314992.5	37	CCDS10072.1																																																																																				0.388	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596	
TTBK2	146057	hgsc.bcm.edu	37	15	43045188	43045188	+	Missense_Mutation	SNP	T	T	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr15:43045188T>G	ENST00000267890.6	-	14	2364	c.2256A>C	c.(2254-2256)caA>caC	p.Q752H		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	752					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GTCCCAGGTCTTGAGATTTGT	0.413																																																	0			15											207.0	195.0	199.0					15																	43045188		1854	4096	5950	40832480	SO:0001583	missense	146057			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2256A>C	15.37:g.43045188T>G	ENSP00000267890:p.Gln752His		40832480	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.787457	0.31593	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.39056	1.1	5.64	3.22	0.36961	.	1.308940	0.04923	N	0.455412	T	0.38108	0.1028	L	0.54323	1.7	0.80722	D	1	B;B	0.14438	0.01;0.006	B;B	0.11329	0.006;0.003	T	0.53401	-0.8444	10	0.87932	D	0	.	1.6716	0.02813	0.1378:0.1603:0.1432:0.5587	.	683;752	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	H	752;682;1157	ENSP00000267890:Q752H	ENSP00000263802:Q1157H	Q	-	3	2	TTBK2	40832480	0.956000	0.32656	1.000000	0.80357	0.985000	0.73830	0.479000	0.22228	0.975000	0.38392	0.482000	0.46254	CAA		0.413	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500	
ATP8B4	79895	hgsc.bcm.edu	37	15	50264940	50264940	+	Missense_Mutation	SNP	C	C	T	rs370938976		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr15:50264940C>T	ENST00000284509.6	-	13	1223	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R361Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	361						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATACATCTTCCGGTCCCAGTT	0.393																																																	0			15						C	GLN/ARG	0,4392		0,0,2196	68.0	66.0	67.0		1082	4.1	1.0	15		67	1,8589	1.2+/-3.3	0,1,4294	no	missense	ATP8B4	NM_024837.2	43	0,1,6490	TT,TC,CC		0.0116,0.0,0.0077	benign	361/1193	50264940	1,12981	2196	4295	6491	48052232	SO:0001583	missense	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1082G>A	15.37:g.50264940C>T	ENSP00000284509:p.Arg361Gln		48052232	Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322647	0.23994	0.0	1.16E-4	ENSG00000104043	ENST00000284509	T	0.62788	-0.0	4.99	4.07	0.47477	.	0.305435	0.29892	N	0.010928	T	0.50326	0.1609	L	0.45285	1.41	0.33279	D	0.561996	B	0.18741	0.03	B	0.17979	0.02	T	0.54282	-0.8317	10	0.15066	T	0.55	.	11.1627	0.48524	0.0:0.909:0.0:0.0909	.	361	Q8TF62	AT8B4_HUMAN	Q	361	ENSP00000284509:R361Q	ENSP00000284509:R361Q	R	-	2	0	ATP8B4	48052232	0.004000	0.15560	1.000000	0.80357	0.993000	0.82548	0.265000	0.18515	1.093000	0.41377	0.650000	0.86243	CGG		0.393	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
MYO5A	4644	hgsc.bcm.edu	37	15	52681443	52681443	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr15:52681443C>A	ENST00000399231.3	-	13	1903	c.1660G>T	c.(1660-1662)Gct>Tct	p.A554S	MYO5A_ENST00000356338.6_Missense_Mutation_p.A554S|MYO5A_ENST00000553916.1_Missense_Mutation_p.A554S|MYO5A_ENST00000399233.2_Missense_Mutation_p.A554S|MYO5A_ENST00000358212.6_Missense_Mutation_p.A554S	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	554	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACTTTGTCAGCAAAATGTTGG	0.343																																																	0			15											102.0	92.0	95.0					15																	52681443		1824	4075	5899	50468735	SO:0001583	missense	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.1660G>T	15.37:g.52681443C>A	ENSP00000382177:p.Ala554Ser		50468735	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345692	0.95807	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08	5.78	5.78	0.91487	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97185	0.9080	M	0.93328	3.405	0.80722	D	1	D;D	0.69078	0.997;0.992	D;P	0.70935	0.971;0.863	D	0.96766	0.9565	10	0.45353	T	0.12	.	20.0137	0.97470	0.0:1.0:0.0:0.0	.	554;554	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	S	554;88;554;554;554;184;554	ENSP00000382177:A554S;ENSP00000382179:A554S;ENSP00000348693:A554S;ENSP00000350945:A554S;ENSP00000451109:A554S	ENSP00000348693:A554S	A	-	1	0	MYO5A	50468735	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.734000	0.93682	0.563000	0.77884	GCT		0.343	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259	
GTF2A2	2958	hgsc.bcm.edu	37	15	59931352	59931352	+	Silent	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr15:59931352A>G	ENST00000396060.2	-	5	490	c.309T>C	c.(307-309)acT>acC	p.T103T	GTF2A2_ENST00000484743.1_Silent_p.T68T|GTF2A2_ENST00000267869.4_5'UTR|GTF2A2_ENST00000396064.3_Missense_Mutation_p.L61P|GTF2A2_ENST00000396063.1_Silent_p.T103T|GTF2A2_ENST00000396061.1_Silent_p.T103T	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa	103					gene expression (GO:0010467)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(2)|kidney(2)|lung(1)	5						TATTGGAGCCAGTATCTAGGA	0.279																																																	0			15											51.0	57.0	55.0					15																	59931352		2188	4289	6477	57718644	SO:0001819	synonymous_variant	2958			BC001919	CCDS10173.1	15q21.3	2010-03-23	2002-08-29		ENSG00000140307	ENSG00000140307		"""General transcription factors"""	4647	protein-coding gene	gene with protein product		600519	"""general transcription factor IIA, 2 (12kD subunit)"""			7958899	Standard	NM_004492		Approved	TFIIA, HsT18745	uc002agg.3	P52657	OTTHUMG00000132725	ENST00000396060.2:c.309T>C	15.37:g.59931352A>G			57718644	A8MYQ7|Q6FGB5	Silent	SNP	ENST00000396060.2	37	CCDS10173.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.291338	0.40494	.	.	ENSG00000140307	ENST00000396064	.	.	.	5.97	3.58	0.41010	.	.	.	.	.	T	0.56717	0.2004	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50947	-0.8767	5	0.39692	T	0.17	-53.0632	6.0228	0.19638	0.7205:0.1384:0.1411:0.0	.	.	.	.	P	61	.	ENSP00000379376:L61P	L	-	2	0	GTF2A2	57718644	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.315000	0.33608	0.456000	0.26937	0.533000	0.62120	CTG		0.279	GTF2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256067.2	NM_004492	
ICE2	79664	hgsc.bcm.edu	37	15	60734670	60734670	+	Silent	SNP	T	T	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr15:60734670T>C	ENST00000261520.4	-	12	2604	c.2370A>G	c.(2368-2370)gaA>gaG	p.E790E	NARG2_ENST00000439632.1_Silent_p.E653E	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						AGCGACAAAGTTCACTTTCAG	0.318																																																	0			15											91.0	81.0	84.0					15																	60734670		2203	4300	6503	58521962	SO:0001819	synonymous_variant	79664																														ENST00000261520.4:c.2370A>G	15.37:g.60734670T>C			58521962		Silent	SNP	ENST00000261520.4	37	CCDS10176.1																																																																																				0.318	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1		
PARP6	56965	hgsc.bcm.edu	37	15	72559093	72559093	+	Missense_Mutation	SNP	C	C	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr15:72559093C>G	ENST00000569795.1	-	4	761	c.74G>C	c.(73-75)gGc>gCc	p.G25A	PARP6_ENST00000413097.2_5'UTR|CELF6_ENST00000569547.1_3'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.G25A|PARP6_ENST00000260376.7_Missense_Mutation_p.G25A			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	25							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CACCTGAACGCCATAGAGAAA	0.458																																																	0			15											157.0	160.0	159.0					15																	72559093		1903	4125	6028	70346147	SO:0001583	missense	56965			AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.74G>C	15.37:g.72559093C>G	ENSP00000456348:p.Gly25Ala		70346147	Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839272	0.91117	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000336471	.	.	.	5.78	4.87	0.63330	.	0.048178	0.85682	D	0.000000	T	0.65386	0.2686	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.969	T	0.68784	-0.5317	9	0.66056	D	0.02	-24.4592	13.8865	0.63712	0.0:0.9271:0.0:0.0729	.	25;25	Q0VDG0;Q2NL67	.;PARP6_HUMAN	A	25	.	ENSP00000260376:G25A	G	-	2	0	PARP6	70346147	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.106000	0.77039	1.454000	0.47793	0.655000	0.94253	GGC		0.458	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214	
CHRNA3	1136	hgsc.bcm.edu	37	15	78893715	78893715	+	Silent	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr15:78893715A>G	ENST00000326828.5	-	5	1653	c.1269T>C	c.(1267-1269)tcT>tcC	p.S423S	CHRNA3_ENST00000348639.3_Silent_p.S423S	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	423					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	ATTCAGAACTAGAGCTTCTCG	0.473																																																	0			15											159.0	145.0	150.0					15																	78893715		2196	4293	6489	76680770	SO:0001819	synonymous_variant	1136				CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.1269T>C	15.37:g.78893715A>G			76680770	Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Silent	SNP	ENST00000326828.5	37	CCDS10305.1																																																																																				0.473	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3		
SLC28A1	9154	hgsc.bcm.edu	37	15	85478562	85478562	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr15:85478562C>T	ENST00000286749.3	+	14	1484	c.1394C>T	c.(1393-1395)tCc>tTc	p.S465F	SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537216.1_Missense_Mutation_p.S465F|SLC28A1_ENST00000394573.1_Missense_Mutation_p.S465F|SLC28A1_ENST00000537624.1_Missense_Mutation_p.S465F			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	465					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CTCATCTGCTCCTACATCCTG	0.617																																																	0			15											104.0	83.0	90.0					15																	85478562		2203	4299	6502	83279566	SO:0001583	missense	9154			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1394C>T	15.37:g.85478562C>T	ENSP00000286749:p.Ser465Phe		83279566	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070346	0.55539	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	5.12	5.12	0.69794	Na dependent nucleoside transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	M	0.85945	2.785	0.80722	D	1	B;B;B	0.34399	0.452;0.136;0.245	B;B;B	0.39771	0.309;0.292;0.309	T	0.01349	-1.1378	10	0.72032	D	0.01	-9.3519	16.1077	0.81236	0.0:1.0:0.0:0.0	.	465;465;465	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	F	465	ENSP00000440546:S465F;ENSP00000444700:S465F;ENSP00000286749:S465F;ENSP00000378074:S465F	ENSP00000286749:S465F	S	+	2	0	SLC28A1	83279566	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.350000	0.79385	2.663000	0.90544	0.400000	0.26472	TCC		0.617	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2		
ABHD2	11057	hgsc.bcm.edu	37	15	89719204	89719204	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr15:89719204T>C	ENST00000352732.5	+	6	1220	c.700T>C	c.(700-702)Tgc>Cgc	p.C234R	ABHD2_ENST00000355100.3_Missense_Mutation_p.C234R|ABHD2_ENST00000565973.1_Missense_Mutation_p.C234R	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	234					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					CGTCAGCGTGTGCCAGGGGTA	0.552																																					Colon(11;252 417 24570 33239 41878)												0			15											119.0	101.0	107.0					15																	89719204		2200	4299	6499	87520208	SO:0001583	missense	11057			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.700T>C	15.37:g.89719204T>C	ENSP00000268129:p.Cys234Arg		87520208	Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.195114	0.78902	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.42900	0.96;0.96	5.55	5.55	0.83447	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.66046	0.2750	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.70630	-0.4819	10	0.72032	D	0.01	-0.6583	15.6965	0.77502	0.0:0.0:0.0:1.0	.	234	P08910	ABHD2_HUMAN	R	234	ENSP00000268129:C234R;ENSP00000347217:C234R	ENSP00000268129:C234R	C	+	1	0	ABHD2	87520208	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.179000	0.71974	2.095000	0.63458	0.523000	0.50628	TGC		0.552	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2		
TARSL2	123283	hgsc.bcm.edu	37	15	102226160	102226160	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr15:102226160A>G	ENST00000335968.3	-	11	1642	c.1426T>C	c.(1426-1428)Ttt>Ctt	p.F476L	snoU13_ENST00000458877.1_RNA	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	476					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCAAAGGTAAACATGTTCTCG	0.463																																																	0			15											158.0	145.0	150.0					15																	102226160		2203	4300	6503	100043683	SO:0001583	missense	123283			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1426T>C	15.37:g.102226160A>G	ENSP00000338093:p.Phe476Leu		100043683	B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	A	32	5.182043	0.94885	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	T;T	0.69175	-0.38;-0.38	5.82	5.82	0.92795	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	H	0.98701	4.305	0.80722	D	1	D;D	0.89917	1.0;0.966	D;D	0.97110	1.0;0.91	D	0.93050	0.6465	10	0.87932	D	0	-20.4604	14.1334	0.65270	1.0:0.0:0.0:0.0	.	476;381	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	L	476;381;476	ENSP00000338093:F476L;ENSP00000439899:F476L	ENSP00000329291:F381L	F	-	1	0	TARSL2	100043683	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.103000	0.94232	2.234000	0.73211	0.533000	0.62120	TTT		0.463	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334	
NLGN4X	57502	hgsc.bcm.edu	37	X	5811131	5811131	+	Silent	SNP	G	G	A	rs187221748		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chrX:5811131G>A	ENST00000381095.3	-	6	2805	c.2178C>T	c.(2176-2178)aaC>aaT	p.N726N	NLGN4X_ENST00000381092.1_Silent_p.N726N|NLGN4X_ENST00000275857.6_Silent_p.N726N|NLGN4X_ENST00000381093.2_Silent_p.N746N|NLGN4X_ENST00000538097.1_Silent_p.N726N	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	726					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGATCTCTTCGTTCTGGATGT	0.552																																																	0			X						G	,	0,3835		0,0,0,1632,571	157.0	116.0	130.0		2178,2178	-1.3	0.9	X		130	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous	NLGN4X	NM_020742.2,NM_181332.1	,	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	,	726/817,726/817	5811131	1,10562	2203	4300	6503	5821131	SO:0001819	synonymous_variant	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2178C>T	X.37:g.5811131G>A			5821131	Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	CCDS14126.1																																																																																				0.552	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742	
KDM5C	8242	hgsc.bcm.edu	37	X	53230860	53230860	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chrX:53230860C>A	ENST00000375401.3	-	14	2465	c.1933G>T	c.(1933-1935)Gag>Tag	p.E645*	KDM5C_ENST00000375383.3_Nonsense_Mutation_p.E604*|KDM5C_ENST00000404049.3_Nonsense_Mutation_p.E644*|KDM5C_ENST00000375379.3_Nonsense_Mutation_p.E645*|KDM5C_ENST00000452825.3_Nonsense_Mutation_p.E578*|KDM5C_ENST00000465402.1_5'UTR	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	645					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.E645*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ATAAGCTCCTCATGGGAGAAG	0.572			"""N, F, S"""		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	1	Substitution - Nonsense(1)	kidney(1)	X											63.0	55.0	57.0					X																	53230860		2203	4300	6503	53247585	SO:0001587	stop_gained	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1933G>T	X.37:g.53230860C>A	ENSP00000364550:p.Glu645*		53247585	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Nonsense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	44	11.265054	0.99539	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.5031	15.8095	0.78547	0.0:1.0:0.0:0.0	.	.	.	.	X	578;645;644;645;604	.	ENSP00000364528:E645X	E	-	1	0	KDM5C	53247585	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.818000	0.86416	2.331000	0.79229	0.600000	0.82982	GAG		0.572	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187	
PAGE2	203569	hgsc.bcm.edu	37	X	55117793	55117793	+	Silent	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chrX:55117793A>G	ENST00000374968.4	+	4	326	c.222A>G	c.(220-222)gaA>gaG	p.E74E	PAGE2_ENST00000374965.1_Silent_p.E57E	NM_207339.2	NP_997222.1	Q7Z2X7	PAGE2_HUMAN	P antigen family, member 2 (prostate associated)	74										endometrium(1)|large_intestine(2)|lung(1)|ovary(2)	6						TTCAACAGGAACTGGCTCTGC	0.398																																																	0			X											76.0	81.0	79.0					X																	55117793		2171	4290	6461	55134518	SO:0001819	synonymous_variant	203569			BC054022	CCDS14367.1	Xp11.22	2009-06-17			ENSG00000234068	ENSG00000234068			31804	protein-coding gene	gene with protein product		300738	"""G antigen, family C, 2"""	GAGEC2		9724777	Standard	NM_207339		Approved	MGC62094, PAGE-2, CT16.4		Q7Z2X7	OTTHUMG00000021648	ENST00000374968.4:c.222A>G	X.37:g.55117793A>G			55134518	Q5JRK7|Q5JRK8	Silent	SNP	ENST00000374968.4	37	CCDS14367.1																																																																																				0.398	PAGE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056857.1	NM_207339	
MTMR8	55613	hgsc.bcm.edu	37	X	63490911	63490911	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chrX:63490911C>A	ENST00000374852.3	-	13	1591	c.1524G>T	c.(1522-1524)caG>caT	p.Q508H	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	508						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)|p.Q508H(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TCTGCTTGGGCTGCAGCCCTT	0.448																																																	3	Whole gene deletion(2)|Substitution - Missense(1)	ovary(1)|lung(1)|large_intestine(1)	X											67.0	56.0	60.0					X																	63490911		2203	4300	6503	63407636	SO:0001583	missense	66036			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1524G>T	X.37:g.63490911C>A	ENSP00000363985:p.Gln508His		63407636	Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.035|0.035	-1.313103|-1.313103	0.01331|0.01331	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000442913|ENST00000374852;ENST00000247400	.|D	.|0.94184	.|-3.37	3.75|3.75	-4.23|-4.23	0.03789|0.03789	.|.	.|0.140687	.|0.28354	.|U	.|0.015647	T|T	0.73690|0.73690	0.3619|0.3619	N|N	0.02539|0.02539	-0.55|-0.55	0.54753|0.54753	D|D	0.999986|0.999986	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.64170|0.64170	-0.6470|-0.6470	5|10	.|0.02654	.|T	.|1	.|.	7.6459|7.6459	0.28321|0.28321	0.0:0.1718:0.5747:0.2536|0.0:0.1718:0.5747:0.2536	.|.	.|508	.|Q96EF0	.|MTMR8_HUMAN	S|H	312|508;394	.|ENSP00000363985:Q508H	.|ENSP00000247400:Q394H	A|Q	-|-	1|3	0|2	MTMR8|MTMR8	63407636|63407636	0.630000|0.630000	0.27155|0.27155	0.021000|0.021000	0.16686|0.16686	0.023000|0.023000	0.10783|0.10783	-1.036000|-1.036000	0.03560|0.03560	-0.702000|-0.702000	0.05056|0.05056	-0.390000|-0.390000	0.06520|0.06520	GCC|CAG		0.448	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677	
STK32B	55351	hgsc.bcm.edu	37	4	5468461	5468461	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr4:5468461A>G	ENST00000282908.5	+	10	1363	c.941A>G	c.(940-942)gAg>gGg	p.E314G	STK32B_ENST00000510398.1_Missense_Mutation_p.E267G|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.E237G	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CCCACATTTGAGCTTGAAGAG	0.448																																																	0			4											81.0	72.0	75.0					4																	5468461		2203	4300	6503	5519362	SO:0001583	missense	55351			AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.941A>G	4.37:g.5468461A>G	ENSP00000282908:p.Glu314Gly		5519362		Missense_Mutation	SNP	ENST00000282908.5	37	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740065	0.89573	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.24908	1.83;1.83;1.83	5.17	5.17	0.71159	Protein kinase-like domain (1);	0.000000	0.42420	U	0.000712	T	0.55033	0.1895	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62666	-0.6806	10	0.72032	D	0.01	.	13.8534	0.63510	1.0:0.0:0.0:0.0	.	314	Q9NY57	ST32B_HUMAN	G	314;237;267	ENSP00000282908:E314G;ENSP00000423209:E237G;ENSP00000420984:E267G	ENSP00000282908:E314G	E	+	2	0	STK32B	5519362	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	7.923000	0.87546	1.952000	0.56665	0.472000	0.43445	GAG		0.448	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401	
PI4K2B	55300	hgsc.bcm.edu	37	4	25262150	25262150	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr4:25262150G>T	ENST00000264864.6	+	6	1104	c.915G>T	c.(913-915)agG>agT	p.R305S	PI4K2B_ENST00000512921.1_Missense_Mutation_p.R209S	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	305	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				TGAAAGACAGGGGCAATGATA	0.294																																																	0			4											115.0	124.0	121.0					4																	25262150		2203	4299	6502	24871248	SO:0001583	missense	55300			AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.915G>T	4.37:g.25262150G>T	ENSP00000264864:p.Arg305Ser		24871248	Q9NUW2	Missense_Mutation	SNP	ENST00000264864.6	37	CCDS3433.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.484187	0.63962	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	D;D	0.98914	-5.23;-5.23	5.76	3.13	0.36017	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.046975	0.85682	D	0.000000	D	0.99152	0.9707	H	0.97806	4.08	0.80722	D	1	P	0.50156	0.932	P	0.59221	0.854	D	0.98245	1.0490	10	0.87932	D	0	-8.3356	4.4678	0.11698	0.3696:0.0:0.4877:0.1428	.	305	Q8TCG2	P4K2B_HUMAN	S	209;305;274	ENSP00000423373:R209S;ENSP00000264864:R305S	ENSP00000264864:R305S	R	+	3	2	PI4K2B	24871248	0.996000	0.38824	1.000000	0.80357	0.953000	0.61014	0.342000	0.19926	0.466000	0.27193	0.650000	0.86243	AGG		0.294	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323	
PGM2	55276	hgsc.bcm.edu	37	4	37847343	37847343	+	Silent	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr4:37847343G>A	ENST00000381967.4	+	8	1099	c.999G>A	c.(997-999)aaG>aaA	p.K333K	PGM2_ENST00000537241.1_Silent_p.K173K|PGM2_ENST00000544359.1_Silent_p.K194K	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	333					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TGGCAGAAAAGCAAGACAGGT	0.388																																																	0			4											83.0	86.0	85.0					4																	37847343		2203	4300	6503	37523738	SO:0001819	synonymous_variant	55276			BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.999G>A	4.37:g.37847343G>A			37523738	B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Silent	SNP	ENST00000381967.4	37	CCDS3443.1																																																																																				0.388	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290	
OCIAD2	132299	hgsc.bcm.edu	37	4	48901894	48901894	+	Missense_Mutation	SNP	T	T	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr4:48901894T>A	ENST00000508632.1	-	3	347	c.115A>T	c.(115-117)Atc>Ttc	p.I39F	OCIAD2_ENST00000273860.4_Missense_Mutation_p.I39F|OCIAD2_ENST00000508069.2_Intron	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	39	OCIA.					endosome (GO:0005768)|mitochondrial inner membrane (GO:0005743)				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						ATCTTTGAGATCTCTGCTCTG	0.388																																																	0			4											202.0	191.0	194.0					4																	48901894		2203	4300	6503	48596651	SO:0001583	missense	132299			BC032808	CCDS3485.1, CCDS33981.1	4p12	2013-10-11			ENSG00000145247	ENSG00000145247			28685	protein-coding gene	gene with protein product						17054434	Standard	NM_001286774		Approved	MGC45416	uc003gyt.3	Q56VL3	OTTHUMG00000128626	ENST00000508632.1:c.115A>T	4.37:g.48901894T>A	ENSP00000423014:p.Ile39Phe		48596651	B4DPE7|Q8N544	Missense_Mutation	SNP	ENST00000508632.1	37	CCDS33981.1	.	.	.	.	.	.	.	.	.	.	T	11.80	1.745412	0.30955	.	.	ENSG00000145247	ENST00000508632;ENST00000273860;ENST00000381464	T;T;T	0.43294	0.95;0.95;0.95	4.74	2.3	0.28687	.	0.214788	0.38663	N	0.001617	T	0.35393	0.0930	L	0.40543	1.245	0.36983	D	0.89438	B;P	0.49307	0.011;0.922	B;P	0.48030	0.013;0.564	T	0.25813	-1.0121	9	.	.	.	-1.6188	6.3242	0.21234	0.0:0.199:0.0:0.801	.	39;39	Q56VL3-2;Q56VL3	.;OCAD2_HUMAN	F	39	ENSP00000423014:I39F;ENSP00000273860:I39F;ENSP00000370873:I39F	.	I	-	1	0	OCIAD2	48596651	1.000000	0.71417	0.965000	0.40720	0.174000	0.22865	1.574000	0.36482	0.406000	0.25560	-0.464000	0.05259	ATC		0.388	OCIAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361984.5	NM_152398	
CEP135	9662	hgsc.bcm.edu	37	4	56865777	56865777	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr4:56865777A>G	ENST00000257287.4	+	17	2370	c.2246A>G	c.(2245-2247)aAg>aGg	p.K749R		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	749					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AAGACAGAAAAGATTGCAAAT	0.333																																																	0			4											70.0	78.0	75.0					4																	56865777		2203	4300	6503	56560534	SO:0001583	missense	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2246A>G	4.37:g.56865777A>G	ENSP00000257287:p.Lys749Arg		56560534	B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.280056	0.23392	.	.	ENSG00000174799	ENST00000257287	T	0.56941	0.43	5.18	2.73	0.32206	.	0.248856	0.47093	D	0.000257	T	0.30230	0.0758	N	0.17723	0.515	0.28411	N	0.9182	B	0.06786	0.001	B	0.12837	0.008	T	0.17623	-1.0363	10	0.10377	T	0.69	.	7.3434	0.26650	0.6558:0.0:0.3442:0.0	.	749	Q66GS9	CP135_HUMAN	R	749	ENSP00000257287:K749R	ENSP00000257287:K749R	K	+	2	0	CEP135	56560534	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	2.491000	0.45303	0.786000	0.33708	0.524000	0.50904	AAG		0.333	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009	
GPRIN3	285513	hgsc.bcm.edu	37	4	90169745	90169745	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr4:90169745T>C	ENST00000609438.1	-	2	2035	c.1517A>G	c.(1516-1518)gAc>gGc	p.D506G	GPRIN3_ENST00000333209.4_Missense_Mutation_p.D506G	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	506										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GCAATCTGGGTCTGTTTTGTG	0.443																																																	0			4											89.0	96.0	94.0					4																	90169745		2203	4300	6503	90388768	SO:0001583	missense	285513			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1517A>G	4.37:g.90169745T>C	ENSP00000476603:p.Asp506Gly		90388768	Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.376515	0.24857	.	.	ENSG00000185477	ENST00000333209	T	0.11495	2.77	5.38	0.0691	0.14372	.	0.713798	0.11522	N	0.555623	T	0.06508	0.0167	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36648	-0.9739	10	0.41790	T	0.15	-3.9639	4.8668	0.13613	0.0:0.2383:0.2826:0.4791	.	506	Q6ZVF9	GRIN3_HUMAN	G	506	ENSP00000328672:D506G	ENSP00000328672:D506G	D	-	2	0	GPRIN3	90388768	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.567000	0.23608	-0.094000	0.12374	-0.313000	0.08912	GAC		0.443	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281	
TNIP3	79931	hgsc.bcm.edu	37	4	122068296	122068296	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr4:122068296G>A	ENST00000509841.1	-	10	952	c.874C>T	c.(874-876)Cga>Tga	p.R292*	TNIP3_ENST00000507879.1_Nonsense_Mutation_p.R285*|TNIP3_ENST00000454328.1_Nonsense_Mutation_p.R215*|TNIP3_ENST00000057513.3_Nonsense_Mutation_p.R215*|TNIP3_ENST00000511909.1_5'UTR	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3									p.R215*(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CGATCCGATCGTTCCTTTTTG	0.373																																																	1	Substitution - Nonsense(1)	ovary(1)	4											193.0	187.0	189.0					4																	122068296		2203	4300	6503	122287746	SO:0001587	stop_gained	79931			AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.874C>T	4.37:g.122068296G>A	ENSP00000426613:p.Arg292*		122287746		Nonsense_Mutation	SNP	ENST00000509841.1	37	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	G	37	6.256847	0.97417	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	.	.	.	5.4	2.33	0.28932	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.629	13.3008	0.60324	0.0:0.0:0.3006:0.6994	.	.	.	.	X	215;215;285;292	.	ENSP00000057513:R215X	R	-	1	2	TNIP3	122287746	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	2.618000	0.46393	0.626000	0.30322	0.563000	0.77884	CGA		0.373	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873	
TRPC3	7222	hgsc.bcm.edu	37	4	122824121	122824121	+	Silent	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr4:122824121A>G	ENST00000379645.3	-	9	2422	c.2349T>C	c.(2347-2349)gtT>gtC	p.V783V	TRPC3_ENST00000264811.5_Silent_p.V710V|TRPC3_ENST00000513531.1_Silent_p.V655V	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	698	Binds to IP3R3.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTGGACTAGGAACTAGACTGA	0.373																																																	0			4											114.0	111.0	112.0					4																	122824121		2203	4300	6503	123043571	SO:0001819	synonymous_variant	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2349T>C	4.37:g.122824121A>G			123043571	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	ENST00000379645.3	37	CCDS47130.1																																																																																				0.373	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305	
LRBA	987	hgsc.bcm.edu	37	4	151336641	151336641	+	Silent	SNP	T	T	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr4:151336641T>C	ENST00000357115.3	-	48	7419	c.7176A>G	c.(7174-7176)gaA>gaG	p.E2392E	LRBA_ENST00000535741.1_Silent_p.E2381E|LRBA_ENST00000507224.1_Silent_p.E2381E|LRBA_ENST00000510413.1_Silent_p.E2381E|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2392	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AAGGAGGAAGTTCGACATCAG	0.378																																																	0			4											122.0	112.0	116.0					4																	151336641		2203	4300	6503	151556091	SO:0001819	synonymous_variant	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7176A>G	4.37:g.151336641T>C			151556091	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	37	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	T	8.833	0.940295	0.18281	.	.	ENSG00000198589	ENST00000509835	.	.	.	5.82	4.64	0.57946	.	.	.	.	.	T	0.57651	0.2068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54576	-0.8273	4	.	.	.	.	6.9988	0.24797	0.1318:0.0698:0.0:0.7985	.	.	.	.	S	1034	.	.	N	-	2	0	LRBA	151556091	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.991000	0.40727	1.035000	0.39972	0.455000	0.32223	AAC		0.378	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
SOS1	6654	hgsc.bcm.edu	37	2	39213357	39213357	+	Missense_Mutation	SNP	T	T	C	rs374497013		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr2:39213357T>C	ENST00000426016.1	-	24	3696	c.3610A>G	c.(3610-3612)Atc>Gtc	p.I1204V	SOS1_ENST00000402219.2_Missense_Mutation_p.I1204V|SOS1_ENST00000395038.2_Missense_Mutation_p.I1189V			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1204					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GGGTCTGAGATAGAGGTCCGG	0.498									Noonan syndrome																																								0			2						T	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	138.0	146.0	143.0		3610	-11.2	0.0	2		143	0,8600		0,0,4300	no	missense	SOS1	NM_005633.3	29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	1204/1334	39213357	1,13005	2203	4300	6503	39066861	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3610A>G	2.37:g.39213357T>C	ENSP00000387784:p.Ile1204Val		39066861	A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.410819	0.00014	2.27E-4	0.0	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038	T;T;T	0.75704	-0.79;-0.79;-0.96	5.58	-11.2	0.00127	.	1.364520	0.04344	N	0.354617	T	0.43831	0.1265	N	0.02011	-0.69	0.26423	N	0.976078	B	0.02656	0.0	B	0.01281	0.0	T	0.50816	-0.8783	10	0.15952	T	0.53	.	14.1255	0.65217	0.0:0.389:0.478:0.1329	.	1204	Q07889	SOS1_HUMAN	V	1204;1204;921;1189	ENSP00000387784:I1204V;ENSP00000384675:I1204V;ENSP00000378479:I1189V	ENSP00000378479:I1189V	I	-	1	0	SOS1	39066861	0.004000	0.15560	0.001000	0.08648	0.207000	0.24258	-1.537000	0.02206	-3.713000	0.00117	-2.209000	0.00301	ATC		0.498	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633	
PCBP1	5093	hgsc.bcm.edu	37	2	70315174	70315174	+	Missense_Mutation	SNP	T	T	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr2:70315174T>A	ENST00000303577.5	+	1	590	c.299T>A	c.(298-300)cTg>cAg	p.L100Q	PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	100	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.L100P(1)|p.L100Q(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						CCGGTCACCCTGAGGCTGGTG	0.602																																					Colon(85;1146 1307 3484 18706 25380)												2	Substitution - Missense(2)	large_intestine(2)	2											59.0	73.0	68.0					2																	70315174		2201	4300	6501	70168678	SO:0001583	missense	5093				CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein E1"""	601209	"""poly(rC)-binding protein 1"""			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.299T>A	2.37:g.70315174T>A	ENSP00000305556:p.Leu100Gln		70168678	Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.551119	0.65311	.	.	ENSG00000169564	ENST00000303577	T	0.30714	1.52	4.16	4.16	0.48862	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.168590	0.40469	U	0.001094	T	0.60573	0.2279	M	0.91459	3.21	0.54753	D	0.999986	D	0.71674	0.998	D	0.70487	0.969	T	0.69781	-0.5052	10	0.87932	D	0	.	11.8577	0.52449	0.0:0.0:0.0:1.0	.	100	Q15365	PCBP1_HUMAN	Q	100	ENSP00000305556:L100Q	ENSP00000305556:L100Q	L	+	2	0	PCBP1	70168678	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.884000	0.69729	2.120000	0.65058	0.477000	0.44152	CTG		0.602	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196	
TMEM182	130827	hgsc.bcm.edu	37	2	103378756	103378756	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr2:103378756C>T	ENST00000412401.2	+	1	285	c.80C>T	c.(79-81)tCg>tTg	p.S27L	TMEM182_ENST00000409173.1_Intron|TMEM182_ENST00000409528.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	27						integral component of membrane (GO:0016021)		p.S27L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						GCTTTTGGATCGGATTATTGG	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)	2											170.0	164.0	166.0					2																	103378756		2203	4300	6503	102745188	SO:0001583	missense	130827			AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.80C>T	2.37:g.103378756C>T	ENSP00000394178:p.Ser27Leu		102745188	C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Missense_Mutation	SNP	ENST00000412401.2	37	CCDS2064.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997101	0.74818	.	.	ENSG00000170417	ENST00000412401	T	0.70516	-0.49	6.02	6.02	0.97574	.	0.049435	0.85682	D	0.000000	T	0.64461	0.2600	L	0.43152	1.355	0.39266	D	0.964296	P	0.44429	0.835	B	0.38327	0.271	T	0.71606	-0.4542	10	0.87932	D	0	-19.2839	15.9588	0.79910	0.0:0.866:0.134:0.0	.	27	Q6ZP80	TM182_HUMAN	L	27	ENSP00000394178:S27L	ENSP00000394178:S27L	S	+	2	0	TMEM182	102745188	0.978000	0.34361	0.998000	0.56505	0.973000	0.67179	2.471000	0.45127	2.865000	0.98341	0.655000	0.94253	TCG		0.398	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	NM_144632	
SCN2A	6326	hgsc.bcm.edu	37	2	166170618	166170618	+	Splice_Site	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr2:166170618G>A	ENST00000375437.2	+	10	1673	c.1383G>A	c.(1381-1383)caG>caA	p.Q461Q	SCN2A_ENST00000283256.6_Splice_Site_p.Q461Q|SCN2A_ENST00000357398.3_Splice_Site_p.Q461Q|SCN2A_ENST00000375427.2_Splice_Site_p.Q461Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	461					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.Q461Q(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGAAGCTCAGGTATAGTGAA	0.398																																																	1	Substitution - coding silent(1)	ovary(1)	2											50.0	48.0	49.0					2																	166170618		2202	4299	6501	165878864	SO:0001630	splice_region_variant	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1383+1G>A	2.37:g.166170618G>A			165878864	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	CCDS33314.1																																																																																				0.398	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	Silent
TTN	7273	hgsc.bcm.edu	37	2	179470014	179470014	+	Missense_Mutation	SNP	T	T	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr2:179470014T>A	ENST00000591111.1	-	230	49191	c.48967A>T	c.(48967-48969)Act>Tct	p.T16323S	TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T9024S|TTN_ENST00000460472.2_Missense_Mutation_p.T8899S|TTN_ENST00000342175.6_Missense_Mutation_p.T9091S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T15396S|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T17964S|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16323	Ig-like 100.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTTAATAGTTGGAGGCACT	0.413																																																	0			2											26.0	24.0	24.0					2																	179470014		1874	4093	5967	179178259	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48967A>T	2.37:g.179470014T>A	ENSP00000465570:p.Thr16323Ser		179178259	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	13.10	2.137051	0.37728	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63913	-0.07;0.19;0.17;0.16	5.74	5.74	0.90152	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50514	0.1620	N	0.20610	0.595	0.39445	D	0.967319	B;B;B;B	0.14012	0.003;0.003;0.003;0.009	B;B;B;B	0.11329	0.006;0.006;0.006;0.006	T	0.50947	-0.8767	9	0.87932	D	0	.	16.0476	0.80731	0.0:0.0:0.0:1.0	.	8899;9024;9091;16323	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	15396;8899;9091;9024;8899	ENSP00000343764:T15396S;ENSP00000434586:T8899S;ENSP00000340554:T9091S;ENSP00000352154:T9024S	ENSP00000340554:T9091S	T	-	1	0	TTN	179178259	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.625000	0.61262	2.190000	0.69967	0.460000	0.39030	ACT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179594277	179594277	+	Silent	SNP	G	G	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr2:179594277G>T	ENST00000591111.1	-	62	17879	c.17655C>A	c.(17653-17655)atC>atA	p.I5885I	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I4958I|TTN_ENST00000589042.1_Silent_p.I6202I			Q8WZ42	TITIN_HUMAN	titin	12683	Ig-like 40.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGCTCTCTGATAAAGGTGG	0.453																																																	0			2											81.0	76.0	77.0					2																	179594277		1841	4095	5936	179302522	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17655C>A	2.37:g.179594277G>T			179302522	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
COL3A1	1281	hgsc.bcm.edu	37	2	189854858	189854858	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr2:189854858G>A	ENST00000304636.3	+	9	897	c.727G>A	c.(727-729)Gga>Aga	p.G243R	COL3A1_ENST00000317840.5_Missense_Mutation_p.G243R	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	243	Triple-helical region.		G -> V (in EDS4).		aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TGGAGAGCGAGGATTGCCTGG	0.373																																																	0			2											66.0	69.0	68.0					2																	189854858		2203	4300	6503	189563103	SO:0001583	missense	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.727G>A	2.37:g.189854858G>A	ENSP00000304408:p.Gly243Arg		189563103	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630489	0.67015	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.99353	-5.77;-5.53	5.57	5.57	0.84162	.	0.000000	0.50627	D	0.000115	D	0.99638	0.9867	H	0.97564	4.03	0.53688	D	0.999973	D	0.89917	1.0	D	0.97110	1.0	D	0.97732	1.0203	10	0.87932	D	0	.	14.7151	0.69262	0.0:0.0:0.855:0.1449	.	243	P02461	CO3A1_HUMAN	R	243	ENSP00000304408:G243R;ENSP00000315243:G243R	ENSP00000304408:G243R	G	+	1	0	COL3A1	189563103	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.135000	0.77276	2.767000	0.95098	0.591000	0.81541	GGA		0.373	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
BOLL	66037	hgsc.bcm.edu	37	2	198631309	198631309	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr2:198631309A>G	ENST00000392296.4	-	7	808	c.499T>C	c.(499-501)Tcc>Ccc	p.S167P	BOLL_ENST00000321801.7_Missense_Mutation_p.S179P|BOLL_ENST00000433157.1_Missense_Mutation_p.S167P|BOLL_ENST00000282278.8_Missense_Mutation_p.S58P|BOLL_ENST00000430004.1_Missense_Mutation_p.S167P|AC011997.1_ENST00000409845.1_Intron	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	167	DAZ-like.				cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.S167A(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						ATCACAGGGGAGCTACATACA	0.338																																																	1	Substitution - Missense(1)	ovary(1)	2											69.0	73.0	71.0					2																	198631309		2203	4300	6503	198339554	SO:0001583	missense	66037				CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.499T>C	2.37:g.198631309A>G	ENSP00000376116:p.Ser167Pro		198339554	B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	ENST00000392296.4	37	CCDS2325.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.358615	0.41801	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000282278;ENST00000433157	T;T;T;T	0.30448	1.53;1.69;1.68;1.69	4.63	4.63	0.57726	.	0.091045	0.46145	D	0.000315	T	0.40015	0.1100	N	0.24115	0.695	0.37135	D	0.901448	D;B;P;B;B	0.76494	0.999;0.111;0.504;0.044;0.074	D;B;B;B;B	0.80764	0.994;0.078;0.304;0.017;0.017	T	0.50381	-0.8835	10	0.87932	D	0	-19.7686	12.4045	0.55432	1.0:0.0:0.0:0.0	.	58;173;179;167;173	B4DZA4;Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;.;BOLL_HUMAN;.	P	167;167;179;58;167	ENSP00000397711:S167P;ENSP00000376116:S167P;ENSP00000314792:S179P;ENSP00000396099:S167P	ENSP00000282278:S58P	S	-	1	0	BOLL	198339554	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.848000	0.55903	1.948000	0.56530	0.482000	0.46254	TCC		0.338	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3	NM_033030	
ZDBF2	57683	hgsc.bcm.edu	37	2	207174442	207174442	+	Silent	SNP	G	G	A	rs140337696	byFrequency	TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr2:207174442G>A	ENST00000374423.3	+	5	5576	c.5190G>A	c.(5188-5190)tcG>tcA	p.S1730S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1730							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAAAACGTTCGAAGCTAAAAC	0.458													G|||	5	0.000998403	0.0038	0.0	5008	,	,		19142	0.0		0.0	False		,,,				2504	0.0																0			2						G		2,3734		0,2,1866	75.0	73.0	74.0		5190	-1.2	0.0	2	dbSNP_134	74	0,8214		0,0,4107	no	coding-synonymous	ZDBF2	NM_020923.1		0,2,5973	AA,AG,GG		0.0,0.0535,0.0167		1730/2355	207174442	2,11948	1868	4107	5975	206882687	SO:0001819	synonymous_variant	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5190G>A	2.37:g.207174442G>A			206882687	Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	CCDS46501.1																																																																																				0.458	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
CPS1	1373	hgsc.bcm.edu	37	2	211441114	211441114	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr2:211441114T>C	ENST00000233072.5	+	3	477	c.281T>C	c.(280-282)cTc>cCc	p.L94P	CPS1_ENST00000430249.2_Missense_Mutation_p.L100P	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	94	Anthranilate phosphoribosyltransferase homolog.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GGACAGATTCTCACAATGGCC	0.408																																																	0			2											186.0	170.0	175.0					2																	211441114		2203	4300	6503	211149359	SO:0001583	missense	1589			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.281T>C	2.37:g.211441114T>C	ENSP00000233072:p.Leu94Pro		211149359	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.586152	0.86851	.	.	ENSG00000021826	ENST00000417946;ENST00000518043;ENST00000523702;ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67;-3.67	5.96	5.96	0.96718	Carbamoyl-phosphate synthase, small subunit, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	H	0.97962	4.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99755	1.1019	10	0.87932	D	0	-7.5435	16.4447	0.83919	0.0:0.0:0.0:1.0	.	104;94	Q59HF8;P31327	.;CPSM_HUMAN	P	94;94;100;100;102;94;94	ENSP00000388496:L94P;ENSP00000430697:L94P;ENSP00000430644:L100P;ENSP00000402608:L100P;ENSP00000233072:L94P	ENSP00000233072:L94P	L	+	2	0	CPS1	211149359	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.466000	0.80914	2.284000	0.76573	0.528000	0.53228	CTC		0.408	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
RANBP6	26953	hgsc.bcm.edu	37	9	6013871	6013871	+	Silent	SNP	T	T	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr9:6013871T>C	ENST00000259569.5	-	1	1747	c.1737A>G	c.(1735-1737)gaA>gaG	p.E579E	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	579					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GCATAAATTTTTCCTTCCCAA	0.398																																																	0			9											159.0	153.0	155.0					9																	6013871		2203	4300	6503	6003871	SO:0001819	synonymous_variant	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1737A>G	9.37:g.6013871T>C			6003871	Q5T7X4|Q7Z3V2|Q96E78	Silent	SNP	ENST00000259569.5	37	CCDS6467.1																																																																																				0.398	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416	
DDX58	23586	hgsc.bcm.edu	37	9	32493914	32493914	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr9:32493914C>T	ENST00000379883.2	-	3	425	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000379868.1_5'UTR|DDX58_ENST00000379882.1_Missense_Mutation_p.E45K|DDX58_ENST00000542096.1_Missense_Mutation_p.E19K	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	90					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TCCCAACTTTCAATGGCTTCA	0.284																																																	0			9											32.0	34.0	33.0					9																	32493914		2197	4292	6489	32483914	SO:0001583	missense	23586			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.268G>A	9.37:g.32493914C>T	ENSP00000369213:p.Glu90Lys		32483914	A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696958	0.30142	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000542096;ENST00000542960	T;T;T	0.05447	3.56;3.46;3.44	4.06	3.13	0.36017	.	0.861825	0.09674	N	0.770750	T	0.06325	0.0163	L	0.42245	1.32	0.80722	D	1	B;B;B	0.25955	0.138;0.085;0.085	B;B;B	0.22601	0.04;0.018;0.02	T	0.24048	-1.0171	10	0.21540	T	0.41	-11.5803	7.1974	0.25860	0.0:0.7274:0.1767:0.096	.	45;19;90	O95786-2;B3KWW1;O95786	.;.;DDX58_HUMAN	K	45;90;19;90	ENSP00000369212:E45K;ENSP00000369213:E90K;ENSP00000442160:E19K	ENSP00000369212:E45K	E	-	1	0	DDX58	32483914	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.706000	0.37878	1.254000	0.44035	0.650000	0.86243	GAA		0.284	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314	
CNTRL	11064	hgsc.bcm.edu	37	9	123877469	123877469	+	Silent	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr9:123877469A>G	ENST00000373855.1	+	11	1706	c.1446A>G	c.(1444-1446)caA>caG	p.Q482Q	CNTRL_ENST00000238341.5_Silent_p.Q482Q|CNTRL_ENST00000373865.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	482					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAGCTATACAACTAAAAAAGG	0.318																																																	0			9											68.0	70.0	69.0					9																	123877469		2203	4297	6500	122917290	SO:0001819	synonymous_variant	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1446A>G	9.37:g.123877469A>G			122917290	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	CCDS35118.1																																																																																				0.318	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018	
MTMR6	9107	hgsc.bcm.edu	37	13	25831346	25831346	+	Silent	SNP	G	G	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr13:25831346G>T	ENST00000381801.5	-	9	1844	c.1083C>A	c.(1081-1083)atC>atA	p.I361I	MTMR6_ENST00000540661.1_Silent_p.I361I|MTMR6_ENST00000482345.1_5'Flank	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	361	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TGAATCCTTTGATTGTCCTGT	0.408																																																	0			13											74.0	70.0	72.0					13																	25831346		2203	4300	6503	24729346	SO:0001819	synonymous_variant	9107			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1083C>A	13.37:g.25831346G>T			24729346	B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Silent	SNP	ENST00000381801.5	37	CCDS9313.1																																																																																				0.408	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685	
BRCA2	675	hgsc.bcm.edu	37	13	32912552	32912552	+	Missense_Mutation	SNP	A	A	G	rs397507322		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr13:32912552A>G	ENST00000380152.3	+	11	4293	c.4060A>G	c.(4060-4062)Acg>Gcg	p.T1354A	BRCA2_ENST00000544455.1_Missense_Mutation_p.T1354A			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1354	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.E1353fs*5(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAAAGATGAAACGGACTTGCT	0.323			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	1	Deletion - Frameshift(1)	ovary(1)	13											60.0	61.0	61.0					13																	32912552		2203	4298	6501	31810552	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4060A>G	13.37:g.32912552A>G	ENSP00000369497:p.Thr1354Ala		31810552	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	8.033	0.762153	0.15914	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00675	5.88;5.88	5.75	4.57	0.56435	.	0.534882	0.19957	N	0.102297	T	0.00815	0.0027	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.48801	-0.9003	10	0.59425	D	0.04	.	10.416	0.44322	0.9261:0.0:0.0739:0.0	.	1354	P51587	BRCA2_HUMAN	A	1354	ENSP00000369497:T1354A;ENSP00000439902:T1354A	ENSP00000369497:T1354A	T	+	1	0	BRCA2	31810552	0.010000	0.17322	0.010000	0.14722	0.291000	0.27294	2.150000	0.42254	1.008000	0.39264	0.460000	0.39030	ACG		0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
RB1	5925	hgsc.bcm.edu	37	13	48947598	48947598	+	Silent	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr13:48947598A>G	ENST00000267163.4	+	12	1323	c.1185A>G	c.(1183-1185)caA>caG	p.Q395Q		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	395	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CAAGTGATCAACCTTCAGAAA	0.289		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	23	Whole gene deletion(15)|Unknown(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	13											103.0	111.0	108.0					13																	48947598		2203	4289	6492	47845599	SO:0001819	synonymous_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1185A>G	13.37:g.48947598A>G			47845599	A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	ENST00000267163.4	37	CCDS31973.1																																																																																				0.289	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
CKAP2	26586	hgsc.bcm.edu	37	13	53036690	53036690	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr13:53036690C>A	ENST00000378037.5	+	5	1386	c.1296C>A	c.(1294-1296)aaC>aaA	p.N432K	CKAP2_ENST00000490903.1_Missense_Mutation_p.N383K|CKAP2_ENST00000258607.5_Missense_Mutation_p.N431K|CKAP2_ENST00000378034.3_Missense_Mutation_p.N431K	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AATGCCTGAACTTGATTAATG	0.294																																																	0			13											50.0	49.0	49.0					13																	53036690		2203	4300	6503	51934691	SO:0001583	missense	26586			AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1296C>A	13.37:g.53036690C>A	ENSP00000367276:p.Asn432Lys		51934691		Missense_Mutation	SNP	ENST00000378037.5	37	CCDS41893.1	.	.	.	.	.	.	.	.	.	.	.	10.72	1.429848	0.25726	.	.	ENSG00000136108	ENST00000398044;ENST00000258607;ENST00000378034;ENST00000378037;ENST00000490903	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.76	-0.484	0.12071	.	0.447250	0.24187	N	0.040759	T	0.26846	0.0657	L	0.49455	1.56	0.27658	N	0.947159	D;D;P;P	0.89917	1.0;1.0;0.884;0.865	D;D;B;B	0.87578	0.998;0.998;0.301;0.391	T	0.23726	-1.0180	10	0.15499	T	0.54	-8.873	2.0434	0.03555	0.1257:0.2882:0.357:0.2291	.	383;432;431;432	E9PD90;Q8WWK9;B2RMQ4;A8MYU4	.;CKAP2_HUMAN;.;.	K	432;431;431;432;383	ENSP00000258607:N431K;ENSP00000367273:N431K;ENSP00000367276:N432K;ENSP00000417830:N383K	ENSP00000258607:N431K	N	+	3	2	CKAP2	51934691	0.653000	0.27358	0.896000	0.35187	0.274000	0.26718	-0.607000	0.05648	-0.137000	0.11455	-0.175000	0.13238	AAC		0.294	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2		
UGGT2	55757	hgsc.bcm.edu	37	13	96622400	96622400	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr13:96622400G>A	ENST00000376747.3	-	12	1371	c.1301C>T	c.(1300-1302)aCt>aTt	p.T434I		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	434					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TAATACATAAGTATATTCCCA	0.303																																																	0			13											76.0	79.0	78.0					13																	96622400		2203	4296	6499	95420401	SO:0001583	missense	0			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1301C>T	13.37:g.96622400G>A	ENSP00000365938:p.Thr434Ile		95420401	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.676494	0.29783	.	.	ENSG00000102595	ENST00000376747	T	0.29917	1.55	5.22	-10.2	0.00374	.	0.747748	0.13092	N	0.414441	T	0.19208	0.0461	M	0.62723	1.935	0.26080	N	0.981104	B	0.31435	0.323	B	0.30943	0.122	T	0.14952	-1.0454	10	0.72032	D	0.01	0.533	2.9071	0.05725	0.1484:0.2175:0.1173:0.5168	.	434	Q9NYU1	UGGG2_HUMAN	I	434	ENSP00000365938:T434I	ENSP00000365938:T434I	T	-	2	0	UGGT2	95420401	0.000000	0.05858	0.003000	0.11579	0.618000	0.37518	-2.123000	0.01319	-1.072000	0.03141	0.455000	0.32223	ACT		0.303	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121	
PARG	8505	hgsc.bcm.edu	37	10	51050074	51050074	+	Missense_Mutation	SNP	G	G	C	rs375437639	byFrequency	TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr10:51050074G>C	ENST00000402038.3	-	11	1007	c.1008C>G	c.(1006-1008)atC>atG	p.I336M		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	821	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)			endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		CGATGGCAACGATCTCAGTGC	0.502																																																	0			10											85.0	71.0	75.0					10																	51050074		692	1591	2283	50720080	SO:0001583	missense	8505			AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.1008C>G	10.37:g.51050074G>C	ENSP00000384408:p.Ile336Met		50720080	A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.36|15.36	2.811196|2.811196	0.50527|0.50527	.|.	.|.	ENSG00000227345|ENSG00000227345	ENST00000402038|ENST00000432127	.|.	.|.	.|.	5.5|5.5	-6.1|-6.1	0.02138|0.02138	.|.	0.053478|.	0.64402|.	D|.	0.000001|.	T|T	0.38214|0.38214	0.1032|0.1032	M|M	0.66378|0.66378	2.025|2.025	.|.	.|.	.|.	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|.	0.81914|.	0.992;0.995;0.991;0.989;0.988;0.989;0.995|.	T|T	0.46261|0.46261	-0.9204|-0.9204	8|4	0.87932|.	D|.	0|.	-9.0389|-9.0389	3.4568|3.4568	0.07518|0.07518	0.3814:0.1116:0.398:0.1091|0.3814:0.1116:0.398:0.1091	.|.	739;821;372;89;336;361;821|.	Q86W56-2;Q86W56;A5YBK3;B4DHS4;Q5SQP4;B4DX76;Q0MQR4|.	.;PARG_HUMAN;.;.;.;.;.|.	M|W	336|37	.|.	ENSP00000384408:I336M|.	I|S	-|-	3|2	3|0	PARG|PARG	50720080|50720080	0.164000|0.164000	0.22935|0.22935	0.700000|0.700000	0.30305|0.30305	0.251000|0.251000	0.25915|0.25915	-0.277000|-0.277000	0.08502|0.08502	-0.914000|-0.914000	0.03827|0.03827	-0.440000|-0.440000	0.05779|0.05779	ATC|TCG		0.502	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631	
PTEN	5728	hgsc.bcm.edu	37	10	89692911	89692911	+	Missense_Mutation	SNP	G	G	T	rs121909241		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr10:89692911G>T	ENST00000371953.3	+	5	1752	c.395G>T	c.(394-396)gGt>gTt	p.G132V		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	132	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome). {ECO:0000269|PubMed:16752378}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G132D(4)|p.Y27fs*1(2)|p.G132V(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACGAACTGGTGTAATGATA	0.398		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	59	Whole gene deletion(37)|Deletion - Frameshift(11)|Substitution - Missense(5)|Unknown(5)|Deletion - In frame(1)	prostate(16)|central_nervous_system(14)|skin(6)|endometrium(5)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|breast(3)|soft_tissue(1)|urinary_tract(1)	10	GRCh37	CM045431|CM063078|CM074468	PTEN	M	rs121909241						137.0	127.0	130.0					10																	89692911		2203	4300	6503	89682891	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.395G>T	10.37:g.89692911G>T	ENSP00000361021:p.Gly132Val		89682891	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827556	0.90955	.	.	ENSG00000171862	ENST00000371953	D	0.99532	-6.1	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	M	0.93594	3.435	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97294	0.9926	8	.	.	.	-10.5526	18.7776	0.91918	0.0:0.0:1.0:0.0	.	132	P60484	PTEN_HUMAN	V	132	ENSP00000361021:G132V	.	G	+	2	0	PTEN	89682891	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	GGT		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
CYP2C8	1558	hgsc.bcm.edu	37	10	96796960	96796960	+	Silent	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr10:96796960G>A	ENST00000371270.3	-	9	1492	c.1398C>T	c.(1396-1398)aaC>aaT	p.N466N	CYP2C8_ENST00000535898.1_Silent_p.N364N	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	466					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	TAGTATTGAGGTTCTTTAAAT	0.428																																																	0			10											141.0	145.0	143.0					10																	96796960		2203	4300	6503	96786950	SO:0001819	synonymous_variant	1558			M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1398C>T	10.37:g.96796960G>A			96786950	A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Silent	SNP	ENST00000371270.3	37	CCDS7438.1																																																																																				0.428	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770	
SLK	9748	hgsc.bcm.edu	37	10	105768065	105768065	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr10:105768065A>G	ENST00000369755.3	+	12	3280	c.2735A>G	c.(2734-2736)gAg>gGg	p.E912G	SLK_ENST00000335753.4_Missense_Mutation_p.E912G|SLK_ENST00000474260.1_3'UTR	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	912					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGAGAACAAGAGAAAGAGTTG	0.363																																					NSCLC(111;540 1651 1927 4474 17706)												0			10											79.0	78.0	78.0					10																	105768065		2203	4300	6503	105758055	SO:0001583	missense	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.2735A>G	10.37:g.105768065A>G	ENSP00000358770:p.Glu912Gly		105758055	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.909803	0.92107	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.36699	1.24;1.24	5.94	5.94	0.96194	Protein kinase-like domain (1);	0.093460	0.64402	D	0.000001	T	0.56906	0.2017	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.67145	0.996;0.994	D;D	0.68192	0.956;0.935	T	0.59139	-0.7510	10	0.87932	D	0	.	16.4075	0.83691	1.0:0.0:0.0:0.0	.	912;912	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	G	912	ENSP00000336824:E912G;ENSP00000358770:E912G	ENSP00000336824:E912G	E	+	2	0	SLK	105758055	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	9.339000	0.96797	2.275000	0.75901	0.528000	0.53228	GAG		0.363	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	
SLC6A19	340024	hgsc.bcm.edu	37	5	1216984	1216984	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr5:1216984G>A	ENST00000304460.10	+	8	1153	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	366					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ATGCAGCAGCGGTGCAACGCC	0.612																																																	0			5											173.0	159.0	163.0					5																	1216984		2203	4300	6503	1269984	SO:0001583	missense	340024			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1097G>A	5.37:g.1216984G>A	ENSP00000305302:p.Arg366Gln		1269984	A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	A	5.316	0.243677	0.10077	.	.	ENSG00000174358	ENST00000304460	T	0.73897	-0.79	4.85	0.99	0.19807	.	1.119860	0.06339	N	0.707702	T	0.52451	0.1735	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.30937	-0.9961	10	0.30854	T	0.27	.	5.1522	0.15015	0.2385:0.0:0.4686:0.2929	.	366	Q695T7	S6A19_HUMAN	Q	366	ENSP00000305302:R366Q	ENSP00000305302:R366Q	R	+	2	0	SLC6A19	1269984	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.563000	0.23547	-0.365000	0.08076	-2.817000	0.00109	CGG		0.612	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120	
NNT	23530	hgsc.bcm.edu	37	5	43704485	43704485	+	Silent	SNP	T	T	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr5:43704485T>A	ENST00000264663.5	+	22	3461	c.3240T>A	c.(3238-3240)gtT>gtA	p.V1080V	NNT_ENST00000512996.2_Silent_p.V949V|NNT_ENST00000344920.4_Silent_p.V1080V	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	1080					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)					AGGCGAAAGTTAGAGAATCCT	0.423																																																	0			5											100.0	90.0	93.0					5																	43704485		2203	4299	6502	43740242	SO:0001819	synonymous_variant	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.3240T>A	5.37:g.43704485T>A			43740242	Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	CCDS3949.1																																																																																				0.423	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977	
IQGAP2	10788	hgsc.bcm.edu	37	5	75996929	75996929	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr5:75996929G>T	ENST00000274364.6	+	34	4693	c.4396G>T	c.(4396-4398)Gga>Tga	p.G1466*	IQGAP2_ENST00000379730.3_Nonsense_Mutation_p.G968*|IQGAP2_ENST00000396234.3_Nonsense_Mutation_p.G962*|IQGAP2_ENST00000502745.1_Nonsense_Mutation_p.G962*|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1466					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAAACTAGATGGAAAAGGAGA	0.423																																																	0			5											95.0	93.0	93.0					5																	75996929		2203	4300	6503	76032685	SO:0001587	stop_gained	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.4396G>T	5.37:g.75996929G>T	ENSP00000274364:p.Gly1466*		76032685	A8K4V1|B7Z8A4|J3KR91	Nonsense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	44	11.085150	0.99513	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000396234;ENST00000502745	.	.	.	5.46	3.64	0.41730	.	0.466924	0.25052	N	0.033504	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-9.414	12.75	0.57304	0.1414:0.0:0.8586:0.0	.	.	.	.	X	1466;968;962;962	.	ENSP00000274364:G1466X	G	+	1	0	IQGAP2	76032685	1.000000	0.71417	0.395000	0.26283	0.215000	0.24574	3.468000	0.53086	1.427000	0.47276	0.655000	0.94253	GGA		0.423	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633	
GPR98	84059	hgsc.bcm.edu	37	5	90072330	90072330	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr5:90072330C>T	ENST00000405460.2	+	61	12560	c.12464C>T	c.(12463-12465)cCg>cTg	p.P4155L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4155	Calx-beta 28. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGGATAGCTCCGTCATCTAGG	0.428																																																	0			5											128.0	126.0	127.0					5																	90072330		1923	4144	6067	90108086	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12464C>T	5.37:g.90072330C>T	ENSP00000384582:p.Pro4155Leu		90108086	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	4.757	0.140818	0.09083	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.28069	1.63	5.13	3.35	0.38373	.	0.548719	0.21413	N	0.074949	T	0.25344	0.0616	M	0.61703	1.905	0.09310	N	0.999993	P	0.52692	0.955	B	0.37198	0.243	T	0.21177	-1.0253	10	0.51188	T	0.08	.	7.3854	0.26880	0.1357:0.7145:0.0:0.1498	.	4155	Q8WXG9	GPR98_HUMAN	L	4155	ENSP00000384582:P4155L	ENSP00000296619:P4155L	P	+	2	0	GPR98	90108086	0.040000	0.19996	0.038000	0.18304	0.046000	0.14306	2.045000	0.41250	0.669000	0.31146	0.637000	0.83480	CCG		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GIN1	54826	hgsc.bcm.edu	37	5	102432330	102432330	+	Silent	SNP	G	G	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr5:102432330G>T	ENST00000399004.2	-	7	1303	c.1209C>A	c.(1207-1209)gtC>gtA	p.V403V	GIN1_ENST00000508629.1_Intron	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	403					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TGTCTCTCAGGACAGCACATC	0.408																																																	0			5											232.0	218.0	223.0					5																	102432330		1880	4114	5994	102460229	SO:0001819	synonymous_variant	54826			BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.1209C>A	5.37:g.102432330G>T			102460229	B2RXF7|B4DIV4|Q6AI03|Q96BR2	Silent	SNP	ENST00000399004.2	37	CCDS43349.1																																																																																				0.408	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676	
APC	324	hgsc.bcm.edu	37	5	112116592	112116592	+	Nonsense_Mutation	SNP	C	C	T	rs587781392		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr5:112116592C>T	ENST00000457016.1	+	6	1017	c.637C>T	c.(637-639)Cga>Tga	p.R213*	RNU6-482P_ENST00000391068.1_RNA|APC_ENST00000257430.4_Nonsense_Mutation_p.R213*|APC_ENST00000508376.2_Nonsense_Mutation_p.R213*			P25054	APC_HUMAN	adenomatous polyposis coli	213	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R213*(20)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TATGGAAAAACGAGCACAGGT	0.348		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	20	Substitution - Nonsense(20)	large_intestine(19)|lung(1)	5	GRCh37	CM920027	APC	M							58.0	57.0	58.0					5																	112116592		2202	4300	6502	112144491	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.637C>T	5.37:g.112116592C>T	ENSP00000413133:p.Arg213*		112144491	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	37	6.046788	0.97231	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.56	3.74	0.42951	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0079	14.2561	0.66053	0.4075:0.5925:0.0:0.0	.	.	.	.	X	213;223;213;213;213	.	ENSP00000257430:R213X	R	+	1	2	APC	112144491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.672000	0.46850	0.659000	0.30945	0.655000	0.94253	CGA		0.348	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175423	112175423	+	Nonsense_Mutation	SNP	C	C	T	rs121913329		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr5:112175423C>T	ENST00000457016.1	+	16	4512	c.4132C>T	c.(4132-4134)Cag>Tag	p.Q1378*	APC_ENST00000257430.4_Nonsense_Mutation_p.Q1378*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.Q1378*			P25054	APC_HUMAN	adenomatous polyposis coli	1378	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.Q1378*(47)|p.Q1378fs*7(2)|p.Y1376fs*41(1)|p.?(1)|p.Q1378fs*5(1)|p.Q1378fs*8(1)|p.K1192fs*3(1)|p.Y1376fs*5(1)|p.Y1376fs*1(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACACTATGTTCAGGAGACCCC	0.468		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	56	Substitution - Nonsense(47)|Deletion - Frameshift(6)|Unknown(1)|Complex - frameshift(1)|Insertion - Frameshift(1)	large_intestine(49)|stomach(5)|soft_tissue(1)|skin(1)	5											91.0	87.0	88.0					5																	112175423		2202	4300	6502	112203322	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4132C>T	5.37:g.112175423C>T	ENSP00000413133:p.Gln1378*		112203322	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	41	8.764727	0.98945	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.1139	20.4898	0.99202	0.0:1.0:0.0:0.0	.	.	.	.	X	1378	.	.	Q	+	1	0	APC	112203322	1.000000	0.71417	0.999000	0.59377	0.831000	0.47069	5.761000	0.68801	2.941000	0.99782	0.655000	0.94253	CAG		0.468	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175653	112175653	+	Missense_Mutation	SNP	A	A	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr5:112175653A>C	ENST00000457016.1	+	16	4742	c.4362A>C	c.(4360-4362)aaA>aaC	p.K1454N	APC_ENST00000257430.4_Missense_Mutation_p.K1454N|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.K1454N			P25054	APC_HUMAN	adenomatous polyposis coli	1454	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1454fs*3(1)|p.N1455fs*17(1)|p.K1192fs*3(1)|p.?(1)|p.P1453fs*4(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGTACCTAAAAATAAAGCAC	0.473		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	5	Deletion - Frameshift(3)|Unknown(1)|Complex - frameshift(1)	large_intestine(2)|thyroid(1)|soft_tissue(1)|skin(1)	5											89.0	81.0	84.0					5																	112175653		2202	4300	6502	112203552	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4362A>C	5.37:g.112175653A>C	ENSP00000413133:p.Lys1454Asn		112203552	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.415832	0.42817	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90197	-2.63;-2.63;-2.63	6.16	6.16	0.99307	.	0.133303	0.64402	D	0.000003	D	0.85995	0.5827	L	0.40543	1.245	0.46149	D	0.99889	P;P	0.46706	0.883;0.745	B;B	0.41571	0.36;0.188	D	0.84823	0.0797	9	.	.	.	-21.701	11.0377	0.47811	0.9314:0.0:0.0686:0.0	.	1456;1454	Q4LE70;P25054	.;APC_HUMAN	N	1454	ENSP00000413133:K1454N;ENSP00000257430:K1454N;ENSP00000427089:K1454N	.	K	+	3	2	APC	112203552	1.000000	0.71417	0.997000	0.53966	0.824000	0.46624	5.126000	0.64721	2.367000	0.80283	0.528000	0.53228	AAA		0.473	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
RAPGEF6	51735	hgsc.bcm.edu	37	5	130769267	130769267	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr5:130769267C>T	ENST00000509018.1	-	25	4035	c.3830G>A	c.(3829-3831)aGc>aAc	p.S1277N	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S1285N|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S1285N|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S1290N|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S1327N	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1277	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGAACAATTGCTCACGATGCT	0.478																																					Melanoma(168;435 1955 13113 13877 23213)												0			5											157.0	134.0	142.0					5																	130769267		2203	4300	6503	130797166	SO:0001583	missense	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.3830G>A	5.37:g.130769267C>T	ENSP00000421684:p.Ser1277Asn		130797166	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863854	0.91511	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.37411	1.29;1.2;1.2;1.29;1.41	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.63838	0.2545	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.998;0.998;0.999;0.998	D;D;D;D;D	0.87578	0.995;0.995;0.995;0.998;0.995	T	0.64466	-0.6401	10	0.66056	D	0.02	.	20.1356	0.98028	0.0:1.0:0.0:0.0	.	1285;1285;1327;1290;1277	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	N	1277;1290;1285;1285;1290;1327	ENSP00000421684:S1277N;ENSP00000309298:S1290N;ENSP00000426081:S1285N;ENSP00000296859:S1285N;ENSP00000426948:S1327N	ENSP00000426948:S1327N	S	-	2	0	RAPGEF6;FNIP1	130797166	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.747000	0.68689	2.755000	0.94549	0.650000	0.86243	AGC		0.478	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340	
GFRA3	2676	hgsc.bcm.edu	37	5	137599964	137599964	+	Missense_Mutation	SNP	C	C	T	rs201874513	byFrequency	TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr5:137599964C>T	ENST00000274721.3	-	2	611	c.365G>A	c.(364-366)cGt>cAt	p.R122H	GFRA3_ENST00000378362.3_Missense_Mutation_p.R122H	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	122					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCTGCGGGCACGGTGAACGGT	0.547													C|||	9	0.00179712	0.0	0.0	5008	,	,		20608	0.0089		0.0	False		,,,				2504	0.0																0			5											79.0	72.0	74.0					5																	137599964		2203	4300	6503	137627863	SO:0001583	missense	2676			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.365G>A	5.37:g.137599964C>T	ENSP00000274721:p.Arg122His		137627863	B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	ENST00000274721.3	37	CCDS4201.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.48	1.950022	0.34377	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.64438	-0.1;-0.1	5.28	0.0964	0.14490	GDNF/GAS1 (2);	0.765819	0.12459	N	0.467035	T	0.29850	0.0746	N	0.02539	-0.55	0.21984	N	0.999434	B;B	0.11235	0.003;0.004	B;B	0.06405	0.001;0.002	T	0.14392	-1.0474	10	0.46703	T	0.11	-0.0074	3.0095	0.06039	0.0881:0.3216:0.3285:0.2617	.	122;122	O60609-2;O60609	.;GFRA3_HUMAN	H	122	ENSP00000274721:R122H;ENSP00000367613:R122H	ENSP00000274721:R122H	R	-	2	0	GFRA3	137627863	0.976000	0.34144	0.920000	0.36463	0.855000	0.48748	0.208000	0.17415	-0.326000	0.08564	-0.291000	0.09656	CGT		0.547	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496	
EGR1	1958	hgsc.bcm.edu	37	5	137803097	137803097	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr5:137803097G>A	ENST00000239938.4	+	2	1231	c.959G>A	c.(958-960)cGc>cAc	p.R320H		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	320					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|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 core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R320H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AAACCCAGCCGCATGCGCAAG	0.622																																																	1	Substitution - Missense(1)	ovary(1)	5											98.0	108.0	105.0					5																	137803097		2203	4300	6503	137830996	SO:0001583	missense	1958			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.959G>A	5.37:g.137803097G>A	ENSP00000239938:p.Arg320His		137830996		Missense_Mutation	SNP	ENST00000239938.4	37	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889874	0.72524	.	.	ENSG00000120738	ENST00000239938	T	0.10960	2.82	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.39860	0.1094	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.50676	-0.8800	10	0.87932	D	0	-17.9847	16.2894	0.82739	0.0:0.0:1.0:0.0	.	320	P18146	EGR1_HUMAN	H	320	ENSP00000239938:R320H	ENSP00000239938:R320H	R	+	2	0	EGR1	137830996	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.657000	0.98554	2.315000	0.78130	0.557000	0.71058	CGC		0.622	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964	
PCDHA9	9752	hgsc.bcm.edu	37	5	140228508	140228508	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr5:140228508C>T	ENST00000532602.1	+	1	1461	c.428C>T	c.(427-429)gCg>gTg	p.A143V	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.A143V|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	143	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTTCATCGCGGAATCCAGG	0.557																																					Melanoma(55;1800 1972 14909)												0			5											92.0	85.0	87.0					5																	140228508		2203	4298	6501	140208692	SO:0001583	missense	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.428C>T	5.37:g.140228508C>T	ENSP00000436042:p.Ala143Val		140208692	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933660	0.52866	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.52983	0.64;0.64	4.13	4.13	0.48395	Cadherin (3);Cadherin-like (1);	0.708972	0.10662	U	0.648542	T	0.48519	0.1504	L	0.59967	1.855	0.09310	N	1	P;P	0.49185	0.869;0.92	B;B	0.40825	0.329;0.341	T	0.48790	-0.9004	10	0.44086	T	0.13	.	16.9231	0.86168	0.0:1.0:0.0:0.0	.	143;143	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	V	143	ENSP00000436042:A143V;ENSP00000367362:A143V	ENSP00000367362:A143V	A	+	2	0	PCDHA9	140208692	0.000000	0.05858	0.089000	0.20774	0.465000	0.32709	-0.704000	0.05058	2.263000	0.75096	0.591000	0.81541	GCG		0.557	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
PCDHA10	56139	hgsc.bcm.edu	37	5	140237091	140237091	+	Silent	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr5:140237091C>T	ENST00000307360.5	+	1	1458	c.1458C>T	c.(1456-1458)aaC>aaT	p.N486N	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.N486N|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	486	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGAGAACGCCCTGGTGT	0.662																																																	0			5											79.0	80.0	80.0					5																	140237091		2196	4273	6469	140217275	SO:0001819	synonymous_variant	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1458C>T	5.37:g.140237091C>T			140217275	A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	CCDS54921.1																																																																																				0.662	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
TCERG1	10915	hgsc.bcm.edu	37	5	145838674	145838674	+	Silent	SNP	A	A	G	rs111879925		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr5:145838674A>G	ENST00000296702.5	+	4	704	c.666A>G	c.(664-666)caA>caG	p.Q222Q	TCERG1_ENST00000394421.2_Silent_p.Q222Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	222	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			cccaggcccaagcccaagccc	0.716																																																	0			5											14.0	18.0	17.0					5																	145838674		2201	4297	6498	145818867	SO:0001819	synonymous_variant	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.666A>G	5.37:g.145838674A>G			145818867	Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	CCDS4282.1																																																																																				0.716	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
AFAP1L1	134265	hgsc.bcm.edu	37	5	148679892	148679892	+	Silent	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr5:148679892C>T	ENST00000296721.4	+	3	302	c.204C>T	c.(202-204)ttC>ttT	p.F68F	AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Silent_p.F68F	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	68						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCCAGCTTCGTGGAATCCC	0.562																																																	0			5											98.0	84.0	88.0					5																	148679892		2203	4300	6503	148660085	SO:0001819	synonymous_variant	134265			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.204C>T	5.37:g.148679892C>T			148660085	Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Silent	SNP	ENST00000296721.4	37	CCDS34274.1																																																																																				0.562	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406	
CDHR2	54825	hgsc.bcm.edu	37	5	176002350	176002350	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr5:176002350G>A	ENST00000510636.1	+	9	965	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	CDHR2_ENST00000506348.1_Missense_Mutation_p.V231M|CDHR2_ENST00000261944.5_Missense_Mutation_p.V231M	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	231	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GTCCATCTCCGTGGTGGACCA	0.627																																																	0			5											93.0	84.0	87.0					5																	176002350		2203	4300	6503	175934956	SO:0001583	missense	0			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.691G>A	5.37:g.176002350G>A	ENSP00000424565:p.Val231Met		175934956	A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932771	0.52866	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.72835	-0.69;-0.69;-0.69	4.22	3.33	0.38152	Cadherin (2);Cadherin-like (2);	.	.	.	.	D	0.87257	0.6132	H	0.96301	3.8	0.28565	N	0.910913	D	0.89917	1.0	D	0.66979	0.948	T	0.81154	-0.1062	9	0.87932	D	0	-12.3437	10.3182	0.43749	0.095:0.0:0.905:0.0	.	231	Q9BYE9	CDHR2_HUMAN	M	231	ENSP00000424565:V231M;ENSP00000261944:V231M;ENSP00000421078:V231M	ENSP00000261944:V231M	V	+	1	0	CDHR2	175934956	0.990000	0.36364	0.096000	0.21009	0.853000	0.48598	2.601000	0.46249	0.962000	0.38057	0.478000	0.44815	GTG		0.627	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675	
UNC5A	90249	hgsc.bcm.edu	37	5	176295878	176295878	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr5:176295878C>T	ENST00000329542.4	+	5	908	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	UNC5A_ENST00000261961.3_Missense_Mutation_p.R172C	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	212	Ig-like C2-type.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGACAGGCCCGCCTTGCTGA	0.667																																																	0			5											91.0	70.0	77.0					5																	176295878		2203	4300	6503	176228484	SO:0001583	missense	90249			AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.634C>T	5.37:g.176295878C>T	ENSP00000332737:p.Arg212Cys		176228484	B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	CCDS34299.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.202849|5.202849	0.94997|0.94997	.|.	.|.	ENSG00000113763|ENSG00000113763	ENST00000509580|ENST00000329542;ENST00000261961	.|T;T	.|0.68025	.|-0.3;-0.3	4.52|4.52	4.52|4.52	0.55395|0.55395	.|Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84147|0.84147	0.5408|0.5408	M|M	0.87682|0.87682	2.9|2.9	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.998;0.999	D|D	0.87890|0.87890	0.2683|0.2683	5|10	.|0.87932	.|D	.|0	-35.6333|-35.6333	17.2675|17.2675	0.87092|0.87092	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|172;212;212	.|Q6ZN44-3;Q6ZN44;Q6ZN44-2	.|.;UNC5A_HUMAN;.	L|C	177|212;172	.|ENSP00000332737:R212C;ENSP00000261961:R172C	.|ENSP00000261961:R172C	P|R	+|+	2|1	0|0	UNC5A|UNC5A	176228484|176228484	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	4.905000|4.905000	0.63286|0.63286	2.068000|2.068000	0.61886|0.61886	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.667	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300	
ROS1	6098	hgsc.bcm.edu	37	6	117665427	117665427	+	Splice_Site	SNP	T	T	C			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr6:117665427T>C	ENST00000368508.3	-	27	4520		c.e27-2		GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Splice_Site	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase						cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.?(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACGCTTTATCTAAAATAAGAA	0.323			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	1	Unknown(1)	central_nervous_system(1)	6											109.0	108.0	108.0					6																	117665427		2203	4300	6503	117772120	SO:0001630	splice_region_variant	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4322-2A>G	6.37:g.117665427T>C			117772120	Q15368|Q5TDB5	Splice_Site	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.020239	0.35606	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.16	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6017	0.33749	0.1712:0.0:0.0:0.8288	.	.	.	.	.	-1	.	.	.	-	.	.	ROS1	117772120	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	3.397000	0.52572	2.077000	0.62373	0.459000	0.35465	.		0.323	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		Intron
LARP1B	55132	hgsc.bcm.edu	37	4	129012668	129012668	+	Splice_Site	SNP	G	G	A			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr4:129012668G>A	ENST00000326639.6	+	7	879		c.e7+1		LARP1B_ENST00000264584.5_Splice_Site|LARP1B_ENST00000354456.3_Splice_Site|LARP1B_ENST00000432347.2_Splice_Site|LARP1B_ENST00000427266.1_Splice_Site|LARP1B_ENST00000441387.1_Splice_Site|LARP1B_ENST00000512292.1_Splice_Site|LARP1B_ENST00000394288.3_Splice_Site	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B							nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AGCGTCAAATGTAAGTGGATG	0.313																																																	0			4											123.0	115.0	118.0					4																	129012668		2203	4300	6503	129232118	SO:0001630	splice_region_variant	55132				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.668+1G>A	4.37:g.129012668G>A			129232118	Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Splice_Site	SNP	ENST00000326639.6	37	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320056	0.81469	.	.	ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266;ENST00000507377	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7147	0.85395	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LARP1B	129232118	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.179000	0.94861	2.245000	0.73994	0.555000	0.69702	.		0.313	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078	Intron
FMN2	56776	hgsc.bcm.edu	37	1	240371056	240371121	+	In_Frame_Del	DEL	CCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	CCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	-	rs139764401|rs71646825|rs557827551|rs537036439|rs71646826|rs141912031|rs202207586|rs71646890|rs11586155|rs71646889|rs71646891|rs71646887|rs375298881|rs71646827|rs373490785	byFrequency	TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	CCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	CCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr1:240371056_240371121delCCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	ENST00000319653.9	+	5	3174_3239	c.2944_3009delCCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	c.(2944-3009)cccggagcgggcataccccctcctcccccacttcccggagcgggcataccccctccgcccccacttdel	p.PGAGIPPPPPLPGAGIPPPPPL1070del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1070	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1131T(2)|p.P1143P(1)|p.G1128A(1)|p.G1128G(1)|p.P1134L(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCCCCTCTACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTTCCCGGAGCGG	0.714																																																	6	Substitution - Missense(4)|Substitution - coding silent(2)	lung(3)|prostate(1)|ovary(1)|large_intestine(1)	1																																								238437744	SO:0001651	inframe_deletion	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2944_3009delCCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	1.37:g.240371056_240371121delCCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	ENSP00000318884:p.Pro1070_Leu1091del		238437679	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	CCDS31069.2																																																																																				0.714	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
FGF5	2250	hgsc.bcm.edu	37	4	81207710	81207711	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr4:81207710_81207711insTT	ENST00000312465.7	+	3	917_918	c.691_692insTT	c.(691-693)gttfs	p.V231fs	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	231					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TTCTTTCACGGTTACTGTTCCT	0.48																																																	0			4																																								81426735	SO:0001589	frameshift_variant	2250			M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.692_693dupTT	4.37:g.81207711_81207712dupTT	ENSP00000311697:p.Val231fs		81426734	B2R554|O75846|Q3Y8M3|Q8NF90	Frame_Shift_Ins	INS	ENST00000312465.7	37	CCDS34021.1																																																																																				0.480	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2		
PCGF6	84108	hgsc.bcm.edu	37	10	105110740	105110741	+	In_Frame_Ins	INS	-	-	GGAGGC	rs201702163|rs113359610|rs60968810	byFrequency	TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr10:105110740_105110741insGGAGGC	ENST00000369847.3	-	1	150_151	c.83_84insGCCTCC	c.(82-84)cct>ccGCCTCCt	p.28_28P>PPP	PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_In_Frame_Ins_p.28_28P>PPP	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	28	Pro-rich.				negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		gcggggagacaggaggcggagg	0.748														2236	0.446486	0.2269	0.4337	5008	,	,		11043	0.4325		0.5149	False		,,,				2504	0.6963																0			10							,	550,2140		138,274,933					,	1.3	0.0		dbSNP_132	6	1951,3319		581,789,1265	no	coding,coding	PCGF6	NM_032154.3,NM_001011663.1	,	719,1063,2198	A1A1,A1R,RR		37.0209,20.4461,31.4196	,	,		2501,5459				105100731	SO:0001652	inframe_insertion	84108			AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	21156	protein-coding gene	gene with protein product		607816	"""ring finger protein 134"""	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.78_83dupGCCTCC	10.37:g.105110741_105110746dupGGAGGC	ENSP00000358862:p.ProPro28dup		105100730	A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	In_Frame_Ins	INS	ENST00000369847.3	37	CCDS31275.1																																																																																				0.748	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050132.1	NM_032154	
KRTAP5-2	440021	hgsc.bcm.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706|rs199811378|rs36134435|rs61869704|rs59506446	byFrequency	TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggctccaaggggggctgtggctcctgtgggggt>ggt	p.93_103GSKGGCGSCGG>G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657																																																	0			11																																								1575778	SO:0001651	inframe_deletion	440021			AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	11.37:g.1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENSP00000400041:p.Gly103_Gly112del		1575749	A9JTZ1	In_Frame_Del	DEL	ENST00000412090.1	37	CCDS31331.1																																																																																				0.657	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325	
NDUFS8	4728	hgsc.bcm.edu	37	11	67795378	67795379	+	5'Flank	INS	-	-	C	rs11436139|rs397801590|rs58238184		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr11:67795378_67795379insC	ENST00000313468.5	+	0	0				RP5-901A4.1_ENST00000532296.1_RNA|ALDH3B1_ENST00000342456.6_Splice_Site|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Splice_Site|ALDH3B1_ENST00000316367.6_Intron|NDUFS8_ENST00000528492.1_5'Flank|ALDH3B1_ENST00000539229.1_Splice_Site	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|lung(5)|skin(1)	8						GGCCATGGAGGCCAAGGCTGCA	0.703													CCC|CC|CCC|deletion	5007	0.9998	0.9992	1.0	5008	,	,		16547	1.0		1.0	False		,,,				2504	1.0				Colon(116;1205 2770 20054)												0			11							,,	4124,30		2052,20,5					,,	-1.9	0.2		dbSNP_120	21	8086,22		4038,10,6	no	frameshift,frameshift,frameshift	ALDH3B1	NM_001161473.1,NM_001030010.1,NM_000694.2	,,	6090,30,11	A1A1,A1R,RR		0.2713,0.7222,0.4241	,,	,,		12210,52				67551955	SO:0001631	upstream_gene_variant	221			U65579	CCDS8176.1	11q13.2	2011-07-04	2002-08-29		ENSG00000110717	ENSG00000110717	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7715	protein-coding gene	gene with protein product	"""complex I 23kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"""	602141	"""NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q reductase)"""			9666055, 9116042	Standard	NM_002496		Approved	TYKY, CI-23k	uc001onc.3	O00217	OTTHUMG00000167331		11.37:g.67795380_67795380dupC	Exception_encountered		67551954	B2RB86|Q0VDA8	Frame_Shift_Ins	INS	ENST00000313468.5	37	CCDS8176.1																																																																																				0.703	NDUFS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394193.1	NM_002496	
PRB4	5545	hgsc.bcm.edu	37	12	11461534	11461596	+	In_Frame_Del	DEL	CCTCCTTGTGGGGGTGGTCTTTCTGGCTTTCCTGGAGGAGGTGGGGTACCTTGGGACTGGTTT	CCTCCTTGTGGGGGTGGTCTTTCTGGCTTTCCTGGAGGAGGTGGGGTACCTTGGGACTGGTTT	-	rs11054244|rs59021567|rs11054243|rs551775057|rs12303607|rs199532199|rs148027029|rs71057722|rs59189129|rs536297617	byFrequency	TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	CCTCCTTGTGGGGGTGGTCTTTCTGGCTTTCCTGGAGGAGGTGGGGTACCTTGGGACTGGTTT	CCTCCTTGTGGGGGTGGTCTTTCTGGCTTTCCTGGAGGAGGTGGGGTACCTTGGGACTGGTTT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr12:11461534_11461596delCCTCCTTGTGGGGGTGGTCTTTCTGGCTTTCCTGGAGGAGGTGGGGTACCTTGGGACTGGTTT	ENST00000535904.1	-	3	354_416	c.321_383delAAACCAGTCCCAAGGTACCCCACCTCCTCCAGGAAAGCCAGAAAGACCACCCCCACAAGGAGG	c.(319-384)ggaaaccagtcccaaggtaccccacctcctccaggaaagccagaaagaccacccccacaaggaggc>ggc	p.107_128GNQSQGTPPPPGKPERPPPQGG>G	PRB4_ENST00000445719.2_Splice_Site_p.107_112GNQSQG>G|PRB4_ENST00000279575.1_In_Frame_Del_p.107_128GNQSQGTPPPPGKPERPPPQGG>G			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	128	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).	SR -> RP (in Ref. 7; CAA30542). {ECO:0000305}.		extracellular region (GO:0005576)		p.P115L(1)|p.G118E(1)|p.P117T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGACTGGTTGCCTCCTTGTGGGGGTGGTCTTTCTGGCTTTCCTGGAGGAGGTGGGGTACCTTGGGACTGGTTTCCTCCTTGTG	0.605										HNSCC(22;0.051)																																							3	Substitution - Missense(3)	lung(1)|kidney(1)|skin(1)	12																																								11352863	SO:0001651	inframe_deletion	5545				CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.321_383delAAACCAGTCCCAAGGTACCCCACCTCCTCCAGGAAAGCCAGAAAGACCACCCCCACAAGGAGG	12.37:g.11461534_11461596delCCTCCTTGTGGGGGTGGTCTTTCTGGCTTTCCTGGAGGAGGTGGGGTACCTTGGGACTGGTTT	ENSP00000442834:p.Gly107_Gly127del		11352801	A1L439|O00600|P02813|P10161|P10162|P81489	In_Frame_Del	DEL	ENST00000535904.1	37	CCDS8641.1																																																																																				0.605	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723	
GSG1	83445	hgsc.bcm.edu	37	12	13243647	13243648	+	Frame_Shift_Ins	INS	-	-	AG	rs369157349|rs2306765	byFrequency	TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr12:13243647_13243648insAG	ENST00000432710.2	-	2	285_286	c.153_154insCT	c.(151-156)tggtttfs	p.F52fs	GSG1_ENST00000396302.3_Frame_Shift_Ins_p.F39fs|GSG1_ENST00000396310.2_Frame_Shift_Ins_p.F36fs|GSG1_ENST00000351606.6_Frame_Shift_Ins_p.F52fs|GSG1_ENST00000457134.2_Frame_Shift_Ins_p.F39fs|GSG1_ENST00000337630.6_Frame_Shift_Ins_p.F39fs|GSG1_ENST00000537302.1_Frame_Shift_Ins_p.F39fs|GSG1_ENST00000324458.8_Frame_Shift_Ins_p.F52fs	NM_001206842.1	NP_001193771.1	Q2KHT4	GSG1_HUMAN	germ cell associated 1	39						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GTGCCCACAAACCAGTAGTTGC	0.554																																																	0			12							,,,,,,	33,4231		0,33,2099					,,,,,,	5.4	1.0			105	124,8130		0,124,4003	no	frameshift,frameshift,frameshift,frameshift,frameshift,frameshift,frameshift	GSG1	NM_153823.3,NM_031289.3,NM_001206845.1,NM_001206843.1,NM_001206842.1,NM_001080555.2,NM_001080554.2	,,,,,,	0,157,6102	A1A1,A1R,RR		1.5023,0.7739,1.2542	,,,,,,	,,,,,,		157,12361				13134915	SO:0001589	frameshift_variant	83445			BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000432710.2:c.153_154insCT	12.37:g.13243647_13243648insAG	ENSP00000405032:p.Phe52fs		13134914	Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Frame_Shift_Ins	INS	ENST00000432710.2	37	CCDS55808.1																																																																																				0.554	GSG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316546.1	NM_031289	
KRAS	3845	hgsc.bcm.edu	37	12	25398283	25398284	+	In_Frame_Ins	INS	-	-	CCAGCT	rs121913529		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr12:25398283_25398284insCCAGCT	ENST00000256078.4	-	2	98_99	c.35_36insAGCTGG	c.(34-36)ggt>ggAGCTGGt	p.12_12G>GAG	KRAS_ENST00000556131.1_In_Frame_Ins_p.12_12G>GAG|KRAS_ENST00000311936.3_In_Frame_Ins_p.12_12G>GAG|KRAS_ENST00000557334.1_In_Frame_Ins_p.12_12G>GAG	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12G(9)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12_G13insG(3)|p.G12Y(2)|p.G12C(1)|p.G13C(1)|p.G12N(1)|p.G12fs*3(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGCCTACGCCACCAGCTCCAAC	0.347	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	15827	Substitution - Missense(15813)|Substitution - coding silent(9)|Insertion - In frame(4)|Deletion - Frameshift(1)	large_intestine(9458)|pancreas(3005)|lung(1513)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(168)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	12																																								25289551	SO:0001652	inframe_insertion	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.30_35dupAGCTGG	12.37:g.25398284_25398289dupCCAGCT	ENSP00000256078:p.AlaGly12dup		25289550	A8K8Z5|B0LPF9|P01118|Q96D10	In_Frame_Ins	INS	ENST00000256078.4	37	CCDS8703.1																																																																																				0.347	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
FAM186A	121006	hgsc.bcm.edu	37	12	50745913	50745948	+	In_Frame_Del	DEL	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	-	rs34283706|rs538502101|rs34000017|rs35116763		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr12:50745913_50745948delTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	ENST00000327337.5	-	4	4666_4701	c.4667_4702delTCCCTCCGCAGGCTCAGGAATTGGAGATCCCTCTCA	c.(4666-4704)atccctccgcaggctcaggaattggagatccctctcacc>acc	p.IPPQAQELEIPL1556del	FAM186A_ENST00000543096.1_5'Flank|FAM186A_ENST00000543111.1_In_Frame_Del_p.IPPQAQELEIPL1556del	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1556																	TGCTGAGGGGTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGATGAGAGGGAT	0.665																																					NSCLC(138;1796 1887 12511 19463 37884)												0			12																																								49032215	SO:0001651	inframe_deletion	121006				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.4667_4702delTCCCTCCGCAGGCTCAGGAATTGGAGATCCCTCTCA	12.37:g.50745913_50745948delTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	ENSP00000329995:p.Ile1556_Leu1567del		49032180		In_Frame_Del	DEL	ENST00000327337.5	37	CCDS44878.1																																																																																				0.665	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396838.1	XM_001718353	
NCOR2	9612	hgsc.bcm.edu	37	12	124824721	124824722	+	In_Frame_Ins	INS	-	-	GCCGCTGCT	rs61519723|rs112797765|rs143952466	byFrequency	TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr12:124824721_124824722insGCCGCTGCT	ENST00000405201.1	-	37	5517_5518	c.5517_5518insAGCAGCGGC	c.(5515-5520)ggcggg>ggcAGCAGCGGCggg	p.1838_1839insGSS	NCOR2_ENST00000429285.2_In_Frame_Ins_p.1828_1829insGSS|NCOR2_ENST00000404621.1_In_Frame_Ins_p.1828_1829insGSS|NCOR2_ENST00000356219.3_In_Frame_Ins_p.1845_1846insGSS|NCOR2_ENST00000397355.1_In_Frame_Ins_p.1829_1830insGSS|NCOR2_ENST00000404121.2_In_Frame_Ins_p.1399_1400insGSS			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1849					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		cccccacccccgccgctgctgc	0.713														4762	0.950879	0.8979	0.9496	5008	,	,		14227	0.9633		0.9672	False		,,,				2504	0.9939																0			12																																								123390675	SO:0001652	inframe_insertion	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5509_5517dupAGCAGCGGC	12.37:g.124824722_124824730dupGCCGCTGCT	ENSP00000384018:p.Gly1836_Ser1838dup		123390674	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	In_Frame_Ins	INS	ENST00000405201.1	37	CCDS41858.2																																																																																				0.713	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
ERICH6B	220081	hgsc.bcm.edu	37	13	46170720	46170737	+	In_Frame_Del	DEL	CCAGATACTCTTCCTCCT	CCAGATACTCTTCCTCCT	-	rs373081063|rs117004691|rs28548352|rs142875900|rs28460344|rs45625342|rs375947127	byFrequency	TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	CCAGATACTCTTCCTCCT	CCAGATACTCTTCCTCCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr13:46170720_46170737delCCAGATACTCTTCCTCCT	ENST00000298738.2	-	3	568_585	c.404_421delAGGAGGAAGAGTATCTGG	c.(403-423)gaggaggaagagtatctgggg>ggg	p.EEEEYL135del		NM_182542.2	NP_872348.2	Q5W0A0	ERI6B_HUMAN		135	Glu-rich.									breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)	5						CCTTCCTTCCCCAGATActcttcctcctccagatgctc	0.486														1379	0.275359	0.1362	0.4308	5008	,	,		23489	0.1607		0.493	False		,,,				2504	0.2474																0			13								414,2088		68,278,905						-4.5	0.0		dbSNP_134	119	2412,2596		704,1004,796	no	coding	FAM194B	NM_182542.2		772,1282,1701	A1A1,A1R,RR		48.1629,16.5468,37.6298				2826,4684				45068738	SO:0001651	inframe_deletion	0																														ENST00000298738.2:c.404_421delAGGAGGAAGAGTATCTGG	13.37:g.46170720_46170737delCCAGATACTCTTCCTCCT	ENSP00000298738:p.Glu135_Leu140del		45068721	Q96MB5	In_Frame_Del	DEL	ENST00000298738.2	37	CCDS45045.1																																																																																				0.486	FAM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044781.3		
DDHD1	80821	hgsc.bcm.edu	37	14	53619480	53619481	+	In_Frame_Ins	INS	-	-	GCCGCC	rs140904345|rs55671452|rs200797826	byFrequency	TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr14:53619480_53619481insGCCGCC	ENST00000323669.5	-	1	335_336	c.336_337insGGCGGC	c.(334-339)ggcagc>ggcGGCGGCagc	p.111_112insGG	AL356020.1_ENST00000584587.1_RNA|RP11-547D23.1_ENST00000554235.1_RNA|DDHD1_ENST00000357758.3_In_Frame_Ins_p.111_112insGG|DDHD1_ENST00000395606.1_In_Frame_Ins_p.111_112insGG	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	111					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GACAAGGAGCTGCCGCCGCCGC	0.703														3933	0.785343	0.4962	0.8718	5008	,	,		9770	0.9673		0.833	False		,,,				2504	0.8783																0			14																																								52689231	SO:0001652	inframe_insertion	80821			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.331_336dupGGCGGC	14.37:g.53619481_53619486dupGCCGCC	ENSP00000327104:p.Gly110_Gly111dup		52689230	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	In_Frame_Ins	INS	ENST00000323669.5	37	CCDS53895.1																																																																																				0.703	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1		
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	DEL	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	-			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	AACCCCGAGGCCCTCAAGGGCTTCCACCCT					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chrUnknown:0delAACCCCGAGGCCCTCAAGGGCTTCCACCCT								None (None upstream) : None (None downstream)																								0.0																																																	0			17																																								263631	SO:0001628	intergenic_variant	400566																															Unknown.37:g.0delAACCCCGAGGCCCTCAAGGGCTTCCACCCT			263602		Frame_Shift_Del	DEL		37																																																																																				0	0								
DEFB118	117285	hgsc.bcm.edu	37	20	29960672	29960672	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr20:29960672delA	ENST00000253381.2	+	2	104	c.71delA	c.(70-72)gaafs	p.E24fs		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	24					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TATAGTGGTGAAAAAAAATGC	0.398																																																	0			20								2,5,4257		0,0,2,0,5,2125	73.0	72.0	72.0			-3.9	0.0	20		72	1,3,8250		0,0,1,0,3,4123	no	codingComplex	DEFB118	NM_054112.2		0,0,3,0,8,6248	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,0.1642,0.0879			29960672	3,8,12507	2203	4300	6503	29424333	SO:0001589	frameshift_variant	117285			AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.71delA	20.37:g.29960672delA	ENSP00000253381:p.Glu24fs		29424333	Q17RC4|Q8N691|Q9NUH0	Frame_Shift_Del	DEL	ENST00000253381.2	37	CCDS13177.1																																																																																				0.398	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112	
KRTAP10-7	386675	hgsc.bcm.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	21							,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				44845098	SO:0001651	inframe_deletion	386675			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del		44845084	Q0VDJ8|Q70LJ2	Frame_Shift_Del	DEL	ENST00000380102.2	37																																																																																					0.698	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
NEFH	4744	hgsc.bcm.edu	37	22	29885589	29885590	+	In_Frame_Ins	INS	-	-	CCCCTGAGAAGGCCAAGT	rs200984527|rs267607533		TCGA-CI-6622-01A-11D-1826-10	TCGA-CI-6622-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	bf3a398b-e3ec-45fd-92d4-d952e0c475c7	b17a5e0f-b91f-4b07-a908-19c3d4e11a59	g.chr22:29885589_29885590insCCCCTGAGAAGGCCAAGT	ENST00000310624.6	+	4	1993_1994	c.1960_1961insCCCCTGAGAAGGCCAAGT	c.(1960-1962)tcc>tCCCCTGAGAAGGCCAAGTcc	p.654_654S>SPEKAKS		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	660	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GAAGGCCAAGTCCCCAGAGAAG	0.559																																																	0			22																																								28215590	SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1943_1960dupCCCCTGAGAAGGCCAAGT	22.37:g.29885589_29885590insCCCCTGAGAAGGCCAAGT	ENSP00000311997:p.ProGluLysAlaLysSer654dup		28215589	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.559	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
