#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
CYTH3	9265	hgsc.bcm.edu	37	7	6230096	6230096	+	Missense_Mutation	SNP	A	A	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr7:6230096A>C	ENST00000350796.3	-	2	237	c.101T>G	c.(100-102)cTt>cGt	p.L34R		NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	34					establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						GTCATCAATAAGTTCCTTTTT	0.299																																																	0			7											35.0	26.0	29.0					7																	6230096		2131	4133	6264	6196621	SO:0001583	missense	9265			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.101T>G	7.37:g.6230096A>C	ENSP00000297044:p.Leu34Arg		6196621	A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.400879	0.83120	.	.	ENSG00000008256	ENST00000350796	T	0.18810	2.19	5.64	5.64	0.86602	.	0.056820	0.64402	N	0.000001	T	0.47340	0.1440	M	0.74467	2.265	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.49854	-0.8895	10	0.87932	D	0	.	14.8465	0.70264	1.0:0.0:0.0:0.0	.	34	O43739-2	.	R	34	ENSP00000297044:L34R	ENSP00000297044:L34R	L	-	2	0	CYTH3	6196621	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.980000	0.88113	2.162000	0.67917	0.455000	0.32223	CTT		0.299	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227	
GPR141	353345	hgsc.bcm.edu	37	7	37780910	37780910	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr7:37780910T>C	ENST00000447769.1	+	4	1204	c.915T>C	c.(913-915)cgT>cgC	p.R305R	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Silent_p.R305R			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTTTGTGCCGTTAGCCACAAA	0.358																																																	0			7											58.0	56.0	57.0					7																	37780910		2203	4300	6503	37747435	SO:0001819	synonymous_variant	353345			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.915T>C	7.37:g.37780910T>C			37747435	A4D1X7|Q0VAR5|Q86SP3	Silent	SNP	ENST00000447769.1	37	CCDS5451.1																																																																																				0.358	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791	
HECW1	23072	hgsc.bcm.edu	37	7	43581521	43581521	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr7:43581521T>C	ENST00000395891.2	+	26	4777	c.4172T>C	c.(4171-4173)tTg>tCg	p.L1391S	HECW1_ENST00000453890.1_Missense_Mutation_p.L1357S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1391	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CACCAGAGTTTGCAGTGGATG	0.438																																																	0			7											172.0	155.0	160.0					7																	43581521		1886	4137	6023	43548046	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4172T>C	7.37:g.43581521T>C	ENSP00000379228:p.Leu1391Ser		43548046	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.0|27.0	4.793619|4.793619	0.90453|0.90453	.|.	.|.	ENSG00000002746|ENSG00000002746	ENST00000429529|ENST00000395891;ENST00000453890;ENST00000265522	.|T;T	.|0.69040	.|-0.37;-0.37	5.95|5.95	5.95|5.95	0.96441|0.96441	.|HECT (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88202|0.88202	0.6373|0.6373	H|H	0.97077|0.97077	3.935|3.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.92040|0.92040	0.5640|0.5640	5|10	.|0.87932	.|D	.|0	.|.	16.4069|16.4069	0.83677|0.83677	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1357;1391	.|B4DH42;Q76N89	.|.;HECW1_HUMAN	R|S	115|1391;1357;1391	.|ENSP00000379228:L1391S;ENSP00000407774:L1357S	.|ENSP00000265522:L1391S	C|L	+|+	1|2	0|0	HECW1|HECW1	43548046|43548046	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	7.691000|7.691000	0.84191|0.84191	2.272000|2.272000	0.75746|0.75746	0.460000|0.460000	0.39030|0.39030	TGC|TTG		0.438	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
WBSCR17	64409	hgsc.bcm.edu	37	7	70597883	70597883	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr7:70597883C>T	ENST00000333538.5	+	1	729	c.95C>T	c.(94-96)gCg>gTg	p.A32V		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	32					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CGGCCCATCGCGGTGCGCAGC	0.637																																																	0			7											47.0	43.0	44.0					7																	70597883		2203	4297	6500	70235819	SO:0001583	missense	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.95C>T	7.37:g.70597883C>T	ENSP00000329654:p.Ala32Val		70235819	Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720381	0.48728	.	.	ENSG00000185274	ENST00000333538	T	0.55413	0.52	4.85	4.85	0.62838	.	0.689293	0.12343	N	0.477303	T	0.35913	0.0948	N	0.08118	0	0.33768	D	0.622742	B	0.22003	0.063	B	0.14578	0.011	T	0.37502	-0.9703	10	0.30854	T	0.27	.	17.1215	0.86702	0.0:1.0:0.0:0.0	.	32	Q6IS24	GLTL3_HUMAN	V	32	ENSP00000329654:A32V	ENSP00000329654:A32V	A	+	2	0	WBSCR17	70235819	0.987000	0.35691	0.998000	0.56505	0.981000	0.71138	4.290000	0.59019	2.512000	0.84698	0.563000	0.77884	GCG		0.637	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
BAZ1B	9031	hgsc.bcm.edu	37	7	72891396	72891396	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr7:72891396T>C	ENST00000339594.4	-	7	2733	c.2395A>G	c.(2395-2397)Aaa>Gaa	p.K799E	BAZ1B_ENST00000404251.1_Missense_Mutation_p.K799E	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	799					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				tccatttctttccgtttctgt	0.403																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0			7											85.0	79.0	81.0					7																	72891396		2203	4300	6503	72529332	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2395A>G	7.37:g.72891396T>C	ENSP00000342434:p.Lys799Glu		72529332	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	T	16.02	3.002956	0.54254	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.63096	-0.02;-0.02	5.7	4.48	0.54585	.	0.042265	0.85682	D	0.000000	T	0.53400	0.1794	M	0.66939	2.045	0.40587	D	0.981459	P	0.42871	0.792	B	0.35182	0.197	T	0.59768	-0.7392	10	0.46703	T	0.11	-25.6355	7.7886	0.29106	0.0:0.0746:0.1402:0.7852	.	799	Q9UIG0	BAZ1B_HUMAN	E	799	ENSP00000342434:K799E;ENSP00000385442:K799E	ENSP00000342434:K799E	K	-	1	0	BAZ1B	72529332	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.863000	0.69568	2.182000	0.69389	0.402000	0.26972	AAA		0.403	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408	
BCL7B	9275	hgsc.bcm.edu	37	7	72966511	72966511	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr7:72966511T>C	ENST00000223368.2	-	2	577	c.154A>G	c.(154-156)Aca>Gca	p.T52A	BCL7B_ENST00000482231.1_5'UTR|BCL7B_ENST00000411832.1_Missense_Mutation_p.T52A	NM_001707.3	NP_001698.2	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	52							actin binding (GO:0003779)	p.T52S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTGCTGTCTGTCACAGGAACC	0.388																																																	1	Substitution - Missense(1)	ovary(1)	7											112.0	110.0	110.0					7																	72966511		2203	4300	6503	72604447	SO:0001583	missense	9275			X89985	CCDS5550.1, CCDS56489.1, CCDS75613.1	7q11.23	2008-07-18			ENSG00000106635	ENSG00000106635			1005	protein-coding gene	gene with protein product		605846				8605326, 9806765	Standard	NM_001707		Approved		uc003tyf.2	Q9BQE9	OTTHUMG00000023412	ENST00000223368.2:c.154A>G	7.37:g.72966511T>C	ENSP00000223368:p.Thr52Ala		72604447	A8K226|C9JWD3|D3DXF0|O43769|Q13845|Q6ZW75	Missense_Mutation	SNP	ENST00000223368.2	37	CCDS5550.1	.	.	.	.	.	.	.	.	.	.	t	13.65	2.299541	0.40694	.	.	ENSG00000106635	ENST00000223368;ENST00000411832	T	0.44881	0.91	4.83	3.65	0.41850	.	0.234553	0.41294	D	0.000914	T	0.24470	0.0593	N	0.14661	0.345	0.29734	N	0.83767	B;B	0.14805	0.011;0.0	B;B	0.18561	0.022;0.003	T	0.11299	-1.0593	10	0.39692	T	0.17	.	9.1027	0.36678	0.0:0.0947:0.0:0.9053	.	52;52	C9JWD3;Q9BQE9	.;BCL7B_HUMAN	A	52	ENSP00000223368:T52A	ENSP00000223368:T52A	T	-	1	0	BCL7B	72604447	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.691000	0.37721	1.925000	0.55765	0.378000	0.23410	ACA		0.388	BCL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252194.1	NM_001707	
GTF2IRD1	9569	hgsc.bcm.edu	37	7	73944105	73944105	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr7:73944105C>T	ENST00000265755.3	+	9	1525	c.1132C>T	c.(1132-1134)Cgg>Tgg	p.R378W	GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R410W|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.R378W|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R378W	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	378				R -> Q (in Ref. 5; AAF21796). {ECO:0000305}.	multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R378W(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CGTGCCCTACCGGAAGATTGC	0.607																																																	1	Substitution - Missense(1)	ovary(1)	7											69.0	59.0	62.0					7																	73944105		2203	4300	6503	73582041	SO:0001583	missense	9569			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.1132C>T	7.37:g.73944105C>T	ENSP00000265755:p.Arg378Trp		73582041	O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	c	19.69	3.873889	0.72180	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.46	-2.05	0.07321	.	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	N	0.19112	0.55	0.52501	D	0.999952	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.993;0.957;0.996;0.974	T	0.52245	-0.8601	10	0.87932	D	0	-25.9307	17.2233	0.86963	0.259:0.7409:0.0:0.0	.	410;378;378;378	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	W	378;410;378;378	ENSP00000265755:R378W;ENSP00000397566:R410W;ENSP00000408477:R378W;ENSP00000418383:R378W	ENSP00000265755:R378W	R	+	1	2	GTF2IRD1	73582041	1.000000	0.71417	0.996000	0.52242	0.862000	0.49288	2.453000	0.44970	-0.142000	0.11354	-0.535000	0.04281	CGG		0.607	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328	
CACNA2D1	781	hgsc.bcm.edu	37	7	81596485	81596485	+	Splice_Site	SNP	G	G	A	rs142390338	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr7:81596485G>A	ENST00000356253.5	-	31	2793	c.2538C>T	c.(2536-2538)gaC>gaT	p.D846D	CACNA2D1_ENST00000356860.3_Splice_Site_p.D834D|CACNA2D1_ENST00000535308.1_Splice_Site_p.D46D			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	846					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GTTTTCTTACGTCACTGTTTC	0.294													g|||	9	0.00179712	0.0	0.0	5008	,	,		13957	0.0089		0.0	False		,,,				2504	0.0																0			7						G		0,4402		0,0,2201	73.0	71.0	72.0		2502	1.3	1.0	7	dbSNP_134	72	1,8589	1.2+/-3.3	0,1,4294	yes	coding-synonymous-near-splice	CACNA2D1	NM_000722.2		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		834/1092	81596485	1,12991	2201	4295	6496	81434421	SO:0001630	splice_region_variant	781			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2538+1C>T	7.37:g.81596485G>A			81434421	Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37																																																																																					0.294	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			Silent
ABCB4	5244	hgsc.bcm.edu	37	7	87092143	87092143	+	Missense_Mutation	SNP	G	G	A	rs8187788	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr7:87092143G>A	ENST00000265723.4	-	4	328	c.217C>T	c.(217-219)Ctc>Ttc	p.L73F	ABCB4_ENST00000545634.1_Missense_Mutation_p.L73F|ABCB4_ENST00000453593.1_Missense_Mutation_p.L73F|ABCB4_ENST00000358400.3_Missense_Mutation_p.L73F|ABCB4_ENST00000359206.3_Missense_Mutation_p.L73F	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	73	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ATCATCATGAGGGGGAGACCT	0.388																																																	0			7											97.0	88.0	91.0					7																	87092143		2203	4300	6503	86930079	SO:0001583	missense	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.217C>T	7.37:g.87092143G>A	ENSP00000265723:p.Leu73Phe		86930079	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706364	0.48412	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72	5.45	3.65	0.41850	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.073720	0.64402	D	0.000009	D	0.92303	0.7558	M	0.64080	1.96	0.58432	D	0.999999	B;B;D;D	0.54397	0.211;0.226;0.958;0.966	B;B;P;P	0.61132	0.079;0.117;0.816;0.884	D	0.90709	0.4626	10	0.54805	T	0.06	-11.3351	8.4984	0.33144	0.1353:0.0:0.7388:0.1259	.	73;73;73;73	Q6PJ81;A4D1D5;P21439-2;P21439	.;.;.;MDR3_HUMAN	F	73	ENSP00000352135:L73F;ENSP00000351172:L73F;ENSP00000265723:L73F;ENSP00000392983:L73F;ENSP00000437465:L73F	ENSP00000265723:L73F	L	-	1	0	ABCB4	86930079	0.072000	0.21174	0.997000	0.53966	0.591000	0.36615	0.047000	0.14056	0.687000	0.31509	-0.824000	0.03097	CTC		0.388	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
STAG3	10734	hgsc.bcm.edu	37	7	99786620	99786620	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr7:99786620T>C	ENST00000426455.1	+	7	1103	c.696T>C	c.(694-696)cgT>cgC	p.R232R	STAG3_ENST00000317296.5_Silent_p.R232R|STAG3_ENST00000394018.2_Silent_p.R174R	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	232					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCGCCTTCCGTCACACTAGCA	0.512																																																	0			7											88.0	86.0	87.0					7																	99786620		2203	4300	6503	99624556	SO:0001819	synonymous_variant	10734			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.696T>C	7.37:g.99786620T>C			99624556	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	37	CCDS34703.1																																																																																				0.512	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447	
MUC17	140453	hgsc.bcm.edu	37	7	100680242	100680242	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr7:100680242C>T	ENST00000306151.4	+	3	5609	c.5545C>T	c.(5545-5547)Cct>Tct	p.P1849S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1849	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P1849A(1)|p.P1849S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCATCTCCTACACCTGC	0.507																																																	2	Substitution - Missense(2)	ovary(1)|endometrium(1)	7											187.0	195.0	192.0					7																	100680242		2203	4300	6503	100466962	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5545C>T	7.37:g.100680242C>T	ENSP00000302716:p.Pro1849Ser		100466962	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.593	-0.832073	0.02713	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.824	-0.342	0.12635	.	.	.	.	.	T	0.01421	0.0046	N	0.04880	-0.145	0.09310	N	1	B	0.20459	0.045	B	0.08055	0.003	T	0.47774	-0.9091	9	0.08381	T	0.77	.	1.9183	0.03302	0.3058:0.4521:0.0:0.2421	.	1849	Q685J3	MUC17_HUMAN	S	1849	ENSP00000302716:P1849S	ENSP00000302716:P1849S	P	+	1	0	MUC17	100466962	0.000000	0.05858	0.005000	0.12908	0.041000	0.13682	-5.003000	0.00161	-0.081000	0.12662	0.134000	0.15878	CCT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
RINT1	60561	hgsc.bcm.edu	37	7	105183037	105183037	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr7:105183037T>C	ENST00000257700.2	+	4	687	c.456T>C	c.(454-456)atT>atC	p.I152I		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	152					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTAGCCAGATTGAAGAGATCG	0.413																																																	0			7											130.0	115.0	120.0					7																	105183037		2203	4300	6503	104970273	SO:0001819	synonymous_variant	60561			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.456T>C	7.37:g.105183037T>C			104970273	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Silent	SNP	ENST00000257700.2	37	CCDS34726.1																																																																																				0.413	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930	
RINT1	60561	hgsc.bcm.edu	37	7	105187418	105187418	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr7:105187418T>C	ENST00000257700.2	+	5	808	c.577T>C	c.(577-579)Tct>Cct	p.S193P		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	193					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CACTCTAGTGTCTATGGCAGA	0.363																																																	0			7											115.0	98.0	104.0					7																	105187418		2203	4300	6503	104974654	SO:0001583	missense	60561			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.577T>C	7.37:g.105187418T>C	ENSP00000257700:p.Ser193Pro		104974654	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.587494	0.46110	.	.	ENSG00000135249	ENST00000257700	T	0.24723	1.84	5.26	2.81	0.32909	.	0.628834	0.17024	N	0.189993	T	0.23249	0.0562	L	0.50333	1.59	0.36262	D	0.854619	B	0.23540	0.087	B	0.28553	0.091	T	0.10451	-1.0629	10	0.34782	T	0.22	-0.4982	8.1289	0.31016	0.1334:0.0:0.1397:0.7269	.	193	Q6NUQ1	RINT1_HUMAN	P	193	ENSP00000257700:S193P	ENSP00000257700:S193P	S	+	1	0	RINT1	104974654	0.672000	0.27530	0.925000	0.36789	0.997000	0.91878	2.153000	0.42282	0.288000	0.22398	0.460000	0.39030	TCT		0.363	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930	
RINT1	60561	hgsc.bcm.edu	37	7	105187424	105187424	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr7:105187424G>A	ENST00000257700.2	+	5	814	c.583G>A	c.(583-585)Gca>Aca	p.A195T		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	195					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.A195S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGTGTCTATGGCAGAACTTGA	0.368																																																	1	Substitution - Missense(1)	ovary(1)	7											117.0	100.0	106.0					7																	105187424		2203	4300	6503	104974660	SO:0001583	missense	60561			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.583G>A	7.37:g.105187424G>A	ENSP00000257700:p.Ala195Thr		104974660	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	9.977	1.227155	0.22542	.	.	ENSG00000135249	ENST00000257700	T	0.22743	1.94	5.26	4.13	0.48395	.	0.115584	0.64402	N	0.000012	T	0.10981	0.0268	N	0.12471	0.22	0.51767	D	0.999939	B	0.06786	0.001	B	0.09377	0.004	T	0.11891	-1.0569	10	0.13108	T	0.6	-8.3789	11.3866	0.49789	0.1166:0.0:0.8834:0.0	.	195	Q6NUQ1	RINT1_HUMAN	T	195	ENSP00000257700:A195T	ENSP00000257700:A195T	A	+	1	0	RINT1	104974660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.291000	0.72719	0.887000	0.36136	0.563000	0.77884	GCA		0.368	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930	
TRIM24	8805	hgsc.bcm.edu	37	7	138268672	138268672	+	Silent	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr7:138268672C>T	ENST00000343526.4	+	18	3086	c.2871C>T	c.(2869-2871)tcC>tcT	p.S957S	TRIM24_ENST00000415680.2_Silent_p.S923S			O15164	TIF1A_HUMAN	tripartite motif containing 24	957	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S923S(2)|p.S957S(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AAGATTATTCCATGTACTCAA	0.348																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)												3	Substitution - coding silent(3)	breast(3)	7											69.0	77.0	74.0					7																	138268672		2203	4300	6503	137919212	SO:0001819	synonymous_variant	8805			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2871C>T	7.37:g.138268672C>T			137919212	A4D1R7|A4D1R8|O95854	Silent	SNP	ENST00000343526.4	37	CCDS5847.1																																																																																				0.348	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905	
BRAF	673	hgsc.bcm.edu	37	7	140453085	140453085	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr7:140453085A>G	ENST00000288602.6	-	15	1910	c.1850T>C	c.(1849-1851)aTt>aCt	p.I617T		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	617	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I617T(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	CATCCACAAAATGGATCCAGA	0.398		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	1	Substitution - Missense(1)	skin(1)	7											89.0	82.0	84.0					7																	140453085		2203	4300	6503	140099554	SO:0001583	missense	673	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1850T>C	7.37:g.140453085A>G	ENSP00000288602:p.Ile617Thr		140099554	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.56|17.56	3.419458|3.419458	0.62622|0.62622	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.84223	.|-1.82	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81814|0.81814	0.4902|0.4902	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	D|D	1|1	.|B	.|0.20368	.|0.044	.|B	.|0.28784	.|0.094	T|T	0.78957|0.78957	-0.1999|-0.1999	5|10	.|0.72032	.|D	.|0.01	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|617	.|P15056	.|BRAF_HUMAN	L|T	225|617	.|ENSP00000288602:I617T	.|ENSP00000288602:I617T	F|I	-|-	1|2	0|0	BRAF|BRAF	140099554|140099554	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	TTT|ATT		0.398	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
TPK1	27010	hgsc.bcm.edu	37	7	144320303	144320303	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr7:144320303A>G	ENST00000360057.3	-	6	412	c.310T>C	c.(310-312)Tgc>Cgc	p.C104R	TPK1_ENST00000378099.3_Missense_Mutation_p.C104R|TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.C99R	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	104					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATTTTAAGGCACTTAGTAAAG	0.318																																					Ovarian(45;88 1034 2073 5829 28455)												0			7											202.0	218.0	213.0					7																	144320303		2203	4300	6503	143951236	SO:0001583	missense	27010			AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.310T>C	7.37:g.144320303A>G	ENSP00000353165:p.Cys104Arg		143951236	A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	A	19.67	3.871570	0.72065	.	.	ENSG00000196511	ENST00000360057;ENST00000538212;ENST00000378099;ENST00000552881	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	6.02	6.02	0.97574	Thiamin pyrophosphokinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.93220	0.7840	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.997	D	0.94618	0.7810	10	0.87932	D	0	-15.1097	12.9364	0.58316	1.0:0.0:0.0:0.0	.	104;104;99	F5GZG6;Q9H3S4;Q6ZQX6	.;TPK1_HUMAN;.	R	104;99;104;104	ENSP00000353165:C104R;ENSP00000438813:C99R;ENSP00000367339:C104R;ENSP00000448655:C104R	ENSP00000353165:C104R	C	-	1	0	TPK1	143951236	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.979000	0.56888	2.311000	0.77944	0.533000	0.62120	TGC		0.318	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445	
WDR60	55112	hgsc.bcm.edu	37	7	158672483	158672483	+	Silent	SNP	C	C	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr7:158672483C>A	ENST00000407559.3	+	5	840	c.682C>A	c.(682-684)Cga>Aga	p.R228R		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	228					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CAACAAACACCGAGAAAAAAG	0.433																																																	0			7											69.0	76.0	74.0					7																	158672483		1859	4099	5958	158365244	SO:0001819	synonymous_variant	55112				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.682C>A	7.37:g.158672483C>A			158365244	Q9NW58	Silent	SNP	ENST00000407559.3	37	CCDS47757.1																																																																																				0.433	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051	
GGTLC1	92086	hgsc.bcm.edu	37	20	23966529	23966529	+	Silent	SNP	C	C	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr20:23966529C>A	ENST00000335694.4	-	4	591	c.387G>T	c.(385-387)ggG>ggT	p.G129G	GGTLC1_ENST00000278765.4_Silent_p.G129G|GGTLC1_ENST00000286890.4_Silent_p.G129G	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	129	Glutamate binding. {ECO:0000250}.				glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TCTGCGTGCCCCCGGCAGCTC	0.647																																																	0			20											110.0	120.0	116.0					20																	23966529		1511	2709	4220	23914529	SO:0001819	synonymous_variant	92086			AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.387G>T	20.37:g.23966529C>A			23914529	D3DW43|Q08246	Silent	SNP	ENST00000335694.4	37	CCDS13163.1																																																																																				0.647	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2	
EP300	2033	hgsc.bcm.edu	37	22	41572350	41572350	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr22:41572350C>T	ENST00000263253.7	+	30	6098	c.4879C>T	c.(4879-4881)Cgg>Tgg	p.R1627W	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1627	Binding region for E1A adenovirus.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.R1627W(3)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GATGGATGGTCGGGATGCGTT	0.577			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	3	Substitution - Missense(3)	urinary_tract(1)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	22											119.0	102.0	108.0					22																	41572350		2203	4300	6503	39902296	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4879C>T	22.37:g.41572350C>T	ENSP00000263253:p.Arg1627Trp		39902296	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861386	0.51482	.	.	ENSG00000100393	ENST00000263253	D	0.93076	-3.16	5.03	3.99	0.46301	.	0.000000	0.46758	D	0.000274	D	0.96935	0.8999	H	0.94620	3.56	0.52099	D	0.99994	D	0.76494	0.999	P	0.57846	0.828	D	0.97750	1.0214	10	0.87932	D	0	-15.4519	14.5885	0.68344	0.1518:0.8482:0.0:0.0	.	1627	Q09472	EP300_HUMAN	W	1627	ENSP00000263253:R1627W	ENSP00000263253:R1627W	R	+	1	2	EP300	39902296	1.000000	0.71417	0.998000	0.56505	0.698000	0.40448	4.864000	0.62990	1.184000	0.42957	0.650000	0.86243	CGG		0.577	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
EFCAB6	64800	hgsc.bcm.edu	37	22	43933328	43933328	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr22:43933328C>T	ENST00000262726.7	-	29	4230	c.3977G>A	c.(3976-3978)cGc>cAc	p.R1326H	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R1174H|EFCAB6-AS1_ENST00000431327.3_RNA|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1326	Interaction with PARK7.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CAGGAGCTGGCGCCAGCAGCC	0.567																																																	0			22											94.0	95.0	95.0					22																	43933328		2203	4300	6503	42264661	SO:0001583	missense	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3977G>A	22.37:g.43933328C>T	ENSP00000262726:p.Arg1326His		42264661	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997616	0.54147	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.08546	3.08;3.08	4.71	3.6	0.41247	EF-hand calcium-binding domain-containing protein 6 (1);	0.164835	0.37136	N	0.002232	T	0.22085	0.0532	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.00304	-1.1832	10	0.45353	T	0.12	-11.9951	9.1685	0.37065	0.0:0.8508:0.0:0.1492	.	1326	Q5THR3	EFCB6_HUMAN	H	1174;1326	ENSP00000379533:R1174H;ENSP00000262726:R1326H	ENSP00000262726:R1326H	R	-	2	0	EFCAB6	42264661	0.685000	0.27652	0.919000	0.36401	0.427000	0.31564	0.998000	0.29744	2.155000	0.67459	0.655000	0.94253	CGC		0.567	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785	
PANX2	56666	hgsc.bcm.edu	37	22	50617527	50617527	+	Nonsense_Mutation	SNP	C	C	T	rs377448993		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr22:50617527C>T	ENST00000395842.2	+	3	1855	c.1855C>T	c.(1855-1857)Cga>Tga	p.R619*	PANX2_ENST00000159647.5_Nonsense_Mutation_p.R619*	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	619					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CATCCTGAGCCGAAACGCCAC	0.721																																																	0			22						C	stop/ARG,stop/ARG	1,4395	2.1+/-5.4	0,1,2197	38.0	36.0	37.0		1855,1855	3.7	1.0	22		37	0,8588		0,0,4294	no	stop-gained,stop-gained	PANX2	NM_001160300.1,NM_052839.3	,	0,1,6491	TT,TC,CC		0.0,0.0227,0.0077	,	619/644,619/678	50617527	1,12983	2198	4294	6492	48959654	SO:0001587	stop_gained	56666				CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1855C>T	22.37:g.50617527C>T	ENSP00000379183:p.Arg619*		48959654	B7Z684|Q96RD5|Q9UGX8	Nonsense_Mutation	SNP	ENST00000395842.2	37	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	C	35	5.466906	0.96257	2.27E-4	0.0	ENSG00000073150	ENST00000159647;ENST00000395842;ENST00000401643	.	.	.	3.72	3.72	0.42706	.	0.355511	0.21888	N	0.067626	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.8294	7.7374	0.28823	0.0:0.8322:0.0:0.1678	.	.	.	.	X	619;619;296	.	ENSP00000159647:R619X	R	+	1	2	PANX2	48959654	1.000000	0.71417	0.998000	0.56505	0.838000	0.47535	2.138000	0.42140	2.081000	0.62600	0.313000	0.20887	CGA		0.721	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839	
SPTB	6710	hgsc.bcm.edu	37	14	65216156	65216156	+	Silent	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr14:65216156G>A	ENST00000556626.1	-	36	6997	c.6855C>T	c.(6853-6855)acC>acT	p.T2285T	SPTB_ENST00000342835.4_5'UTR|SPTB_ENST00000389722.3_Silent_p.T2285T			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CGTTGATGGCGGTGCTCACGC	0.692																																																	0			14											47.0	44.0	45.0					14																	65216156		2203	4300	6503	64285909	SO:0001819	synonymous_variant	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000556626.1:c.6855C>T	14.37:g.65216156G>A			64285909	Q15510|Q15519	Silent	SNP	ENST00000556626.1	37	CCDS32099.1																																																																																				0.692	SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414076.1		
SPTB	6710	hgsc.bcm.edu	37	14	65253730	65253730	+	Missense_Mutation	SNP	G	G	A	rs371628390	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr14:65253730G>A	ENST00000389721.5	-	15	2985	c.2953C>T	c.(2953-2955)Cgg>Tgg	p.R985W	SPTB_ENST00000389720.3_Missense_Mutation_p.R985W|SPTB_ENST00000542895.1_Missense_Mutation_p.R985W|SPTB_ENST00000389722.3_Missense_Mutation_p.R985W|SPTB_ENST00000556626.1_Missense_Mutation_p.R985W	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	985					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCAGGTCCCGCCCCAGGTCT	0.602													g|||	2	0.000399361	0.0008	0.0	5008	,	,		18467	0.0		0.0	False		,,,				2504	0.001																0			14							TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	81.0	76.0	78.0		2953,2953	4.2	1.0	14		78	0,8600		0,0,4300	no	missense,missense	SPTB	NM_000347.5,NM_001024858.2	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	985/2138,985/2329	65253730	1,13005	2203	4300	6503	64323483	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2953C>T	14.37:g.65253730G>A	ENSP00000374371:p.Arg985Trp		64323483	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028681	0.75390	2.27E-4	0.0	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.06	4.16	0.48862	.	0.443348	0.24463	N	0.038311	T	0.55194	0.1905	M	0.68952	2.095	0.20074	N	0.999935	D;D	0.60160	0.987;0.977	P;P	0.51453	0.67;0.67	T	0.52902	-0.8513	10	0.72032	D	0.01	.	11.6703	0.51396	0.0:0.0:0.5623:0.4377	.	985;989	P11277;Q59FP5	SPTB1_HUMAN;.	W	989;985;985;985;985;985	ENSP00000374372:R985W;ENSP00000451752:R985W;ENSP00000374371:R985W;ENSP00000443882:R985W;ENSP00000374370:R985W	ENSP00000374370:R985W	R	-	1	2	SPTB	64323483	0.000000	0.05858	0.992000	0.48379	0.992000	0.81027	0.862000	0.27899	1.253000	0.44018	0.549000	0.68633	CGG		0.602	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		
TRIP11	9321	hgsc.bcm.edu	37	14	92480701	92480701	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr14:92480701T>C	ENST00000267622.4	-	7	1417	c.1044A>G	c.(1042-1044)gaA>gaG	p.E348E		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	348					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTTCACATTCTTCCATTATTT	0.328			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0			14											151.0	127.0	135.0					14																	92480701		2203	4299	6502	91550454	SO:0001819	synonymous_variant	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1044A>G	14.37:g.92480701T>C			91550454	B2RUT2|O14689|O15154|O95949	Silent	SNP	ENST00000267622.4	37	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	8.182	0.794013	0.16327	.	.	ENSG00000100815	ENST00000554357	.	.	.	5.43	1.61	0.23674	.	.	.	.	.	T	0.45756	0.1358	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23904	-1.0175	4	.	.	.	.	3.406	0.07341	0.2765:0.1949:0.0:0.5286	.	.	.	.	G	93	.	.	R	-	1	2	TRIP11	91550454	0.998000	0.40836	0.186000	0.23195	0.981000	0.71138	0.289000	0.18957	0.082000	0.17018	-0.496000	0.04628	AGA		0.328	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1		
UNC79	57578	hgsc.bcm.edu	37	14	94060163	94060163	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr14:94060163G>A	ENST00000393151.2	+	23	3170	c.3170G>A	c.(3169-3171)tGg>tAg	p.W1057*	UNC79_ENST00000555664.1_Nonsense_Mutation_p.W1057*|UNC79_ENST00000553484.1_Nonsense_Mutation_p.W1057*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.W880*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1057					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W880*(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGCAAAGACTGGAAGATGAGG	0.483																																																	1	Substitution - Nonsense(1)	ovary(1)	14											156.0	136.0	143.0					14																	94060163		2203	4300	6503	93129916	SO:0001587	stop_gained	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3170G>A	14.37:g.94060163G>A	ENSP00000376858:p.Trp1057*		93129916	B5MDL6|Q6ZUT7	Nonsense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	42	9.368463	0.99150	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1738	19.978	0.97315	0.0:0.0:1.0:0.0	.	.	.	.	X	880;1057;1057;1057;1057	.	ENSP00000256339:W880X	W	+	2	0	KIAA1409	93129916	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.733000	0.93635	0.557000	0.71058	TGG		0.483	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
SYNE3	161176	hgsc.bcm.edu	37	14	95899734	95899734	+	Missense_Mutation	SNP	G	G	A	rs542033506		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr14:95899734G>A	ENST00000334258.5	-	15	2565	c.2551C>T	c.(2551-2553)Cgg>Tgg	p.R851W	SYNE3_ENST00000557275.1_Missense_Mutation_p.R846W|SYNE3_ENST00000554873.1_Missense_Mutation_p.R608W	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	851					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						TCTGGCACCCGAGCCTCCAGC	0.582																																																	0			14											63.0	64.0	64.0					14																	95899734		2203	4300	6503	94969487	SO:0001583	missense	161176			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2551C>T	14.37:g.95899734G>A	ENSP00000334308:p.Arg851Trp		94969487	A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192208	0.58017	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.16743	3.35;2.32;3.36	5.55	3.46	0.39613	.	0.257321	0.20260	N	0.095889	T	0.39489	0.1080	M	0.71581	2.175	0.09310	N	0.999998	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.958	T	0.15780	-1.0425	10	0.72032	D	0.01	-30.7355	13.3618	0.60661	0.0:0.0:0.7036:0.2964	.	846;851	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	W	851;608;846	ENSP00000334308:R851W;ENSP00000452154:R608W;ENSP00000450562:R846W	ENSP00000334308:R851W	R	-	1	2	C14orf49	94969487	0.298000	0.24417	0.130000	0.21974	0.997000	0.91878	3.052000	0.49893	1.290000	0.44636	0.655000	0.94253	CGG		0.582	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592	
BDKRB2	624	hgsc.bcm.edu	37	14	96707252	96707252	+	Missense_Mutation	SNP	G	G	A	rs201760673		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr14:96707252G>A	ENST00000306005.3	+	3	783	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	BDKRB2_ENST00000542454.2_Missense_Mutation_p.R169Q|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Missense_Mutation_p.R169Q|BDKRB2_ENST00000554311.1_Missense_Mutation_p.R196Q	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	196					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)	p.R196Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	CTGGTGTTCCGGACCATGAAG	0.587																																																	1	Substitution - Missense(1)	ovary(1)	14											111.0	93.0	99.0					14																	96707252		2203	4300	6503	95777005	SO:0001583	missense	624			S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.587G>A	14.37:g.96707252G>A	ENSP00000307713:p.Arg196Gln		95777005		Missense_Mutation	SNP	ENST00000306005.3	37	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	G	32	5.167607	0.94768	.	.	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	4.72	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61776	0.2374	M	0.75264	2.295	0.51767	D	0.999931	D	0.89917	1.0	D	0.97110	1.0	T	0.65829	-0.6073	10	0.56958	D	0.05	-39.987	18.0446	0.89328	0.0:0.0:1.0:0.0	.	196	P30411	BKRB2_HUMAN	Q	169;196;196;169	ENSP00000439459:R169Q;ENSP00000450482:R196Q;ENSP00000307713:R196Q;ENSP00000438376:R169Q	ENSP00000307713:R196Q	R	+	2	0	BDKRB2	95777005	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.695000	0.98691	2.332000	0.79248	0.561000	0.74099	CGG		0.587	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1		
DAPK3	1613	hgsc.bcm.edu	37	19	3959259	3959259	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr19:3959259G>A	ENST00000545797.2	-	9	1448	c.1205C>T	c.(1204-1206)gCg>gTg	p.A402V	MIR637_ENST00000385000.1_RNA|DAPK3_ENST00000301264.3_Missense_Mutation_p.A402V			O43293	DAPK3_HUMAN	death-associated protein kinase 3	402					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCAGCAGCGCGCCCTTGGC	0.697																																																	0			19											12.0	13.0	12.0					19																	3959259		2191	4277	6468	3910259	SO:0001583	missense	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.1205C>T	19.37:g.3959259G>A	ENSP00000442973:p.Ala402Val		3910259	A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	ENST00000545797.2	37	CCDS12116.1	.	.	.	.	.	.	.	.	.	.	G	4.566	0.105216	0.08731	.	.	ENSG00000167657	ENST00000301264;ENST00000545797	T;T	0.68624	-0.34;-0.34	4.91	4.91	0.64330	.	0.061542	0.64402	D	0.000004	T	0.48804	0.1520	L	0.27053	0.805	0.37948	D	0.932569	B	0.19706	0.038	B	0.06405	0.002	T	0.47774	-0.9091	10	0.13853	T	0.58	.	10.6525	0.45657	0.0996:0.0:0.9004:0.0	.	402	O43293	DAPK3_HUMAN	V	402	ENSP00000301264:A402V;ENSP00000442973:A402V	ENSP00000301264:A402V	A	-	2	0	DAPK3	3910259	0.957000	0.32711	0.452000	0.26994	0.130000	0.20726	5.591000	0.67536	2.279000	0.76181	0.561000	0.74099	GCG		0.697	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348	
SAFB	6294	hgsc.bcm.edu	37	19	5641842	5641842	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr19:5641842T>C	ENST00000292123.5	+	4	538	c.431T>C	c.(430-432)gTt>gCt	p.V144A	SAFB_ENST00000588852.1_Missense_Mutation_p.V144A|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000454510.1_Intron|SAFB_ENST00000592224.1_Missense_Mutation_p.V144A|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000433404.1_5'UTR	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	144					chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		AATGGAAGCGTTGCAGATTGT	0.488																																					Colon(88;338 1345 6184 8214 20897)												0			19											157.0	154.0	155.0					19																	5641842		2203	4300	6503	5592842	SO:0001583	missense	6294			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.431T>C	19.37:g.5641842T>C	ENSP00000292123:p.Val144Ala		5592842	A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	T	0.956	-0.704974	0.03255	.	.	ENSG00000160633	ENST00000292123	T	0.09445	2.98	5.7	4.63	0.57726	.	0.122641	0.36303	N	0.002678	T	0.02494	0.0076	N	0.01209	-0.955	0.80722	D	1	B;B;B;B;B	0.15719	0.014;0.0;0.014;0.008;0.014	B;B;B;B;B	0.18871	0.023;0.001;0.023;0.023;0.023	T	0.38650	-0.9651	10	0.02654	T	1	-17.463	3.5602	0.07880	0.0:0.2369:0.0:0.7631	.	144;144;144;144;144	B7ZLP5;B7Z2H3;A0AV56;Q15424;B7ZLP6	.;.;.;SAFB1_HUMAN;.	A	144	ENSP00000292123:V144A	ENSP00000292123:V144A	V	+	2	0	SAFB	5592842	0.830000	0.29337	0.074000	0.20217	0.227000	0.25037	3.019000	0.49635	2.165000	0.68154	0.455000	0.32223	GTT		0.488	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2		
DNMT1	1786	hgsc.bcm.edu	37	19	10248608	10248608	+	Missense_Mutation	SNP	G	G	A	rs375225009		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr19:10248608G>A	ENST00000340748.4	-	35	4380	c.4145C>T	c.(4144-4146)tCg>tTg	p.S1382L	DNMT1_ENST00000540357.1_Missense_Mutation_p.S1382L|DNMT1_ENST00000589538.1_5'Flank|DNMT1_ENST00000359526.4_Missense_Mutation_p.S1398L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1382	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S1382L(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CTCCAGTGCCGAGGCTCCATT	0.622																																																	1	Substitution - Missense(1)	ovary(1)	19						G	LEU/SER,LEU/SER	0,4406		0,0,2203	65.0	49.0	54.0		4193,4145	4.3	0.0	19		54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DNMT1	NM_001130823.1,NM_001379.2	145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	1398/1633,1382/1617	10248608	1,13005	2203	4300	6503	10109608	SO:0001583	missense	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.4145C>T	19.37:g.10248608G>A	ENSP00000345739:p.Ser1382Leu		10109608	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405251	0.62288	0.0	1.16E-4	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.84223	-1.82;-1.82;-1.82	5.38	4.34	0.51931	.	0.121936	0.56097	D	0.000027	D	0.86703	0.5996	M	0.64630	1.985	0.48185	D	0.999608	P;P;D	0.53619	0.952;0.952;0.961	P;P;P	0.50537	0.51;0.51;0.643	D	0.87259	0.2278	10	0.59425	D	0.04	.	13.1521	0.59494	0.0795:0.0:0.9205:0.0	.	1382;1398;1382	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	L	1398;1382;1382;1250	ENSP00000352516:S1398L;ENSP00000440457:S1382L;ENSP00000345739:S1382L	ENSP00000345739:S1382L	S	-	2	0	DNMT1	10109608	1.000000	0.71417	0.015000	0.15790	0.008000	0.06430	9.416000	0.97383	1.255000	0.44051	0.655000	0.94253	TCG		0.622	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379	
PLPPR2	64748	hgsc.bcm.edu	37	19	11471965	11471965	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr19:11471965C>T	ENST00000251473.5	+	6	840	c.464C>T	c.(463-465)aCg>aTg	p.T155M	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.T130M	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2												p.T155M(1)									GGCAATCCCACGCCACACTTC	0.647																																																	1	Substitution - Missense(1)	large_intestine(1)	19											81.0	59.0	66.0					19																	11471965		2203	4300	6503	11332965	SO:0001583	missense	64748																														ENST00000251473.5:c.464C>T	19.37:g.11471965C>T	ENSP00000251473:p.Thr155Met		11332965		Missense_Mutation	SNP	ENST00000251473.5	37	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.638352	0.87760	.	.	ENSG00000105520	ENST00000251473	T	0.74737	-0.87	5.18	4.14	0.48551	.	0.000000	0.85682	D	0.000000	D	0.84356	0.5454	M	0.71581	2.175	0.58432	D	0.999996	D;D	0.76494	0.999;0.998	D;D	0.71870	0.975;0.953	D	0.86199	0.1617	10	0.72032	D	0.01	-5.2274	14.7355	0.69412	0.0:0.854:0.146:0.0	.	130;155	Q96GM1-2;Q96GM1	.;LPPR2_HUMAN	M	155	ENSP00000251473:T155M	ENSP00000251473:T155M	T	+	2	0	AC024575.1	11332965	1.000000	0.71417	0.860000	0.33809	0.946000	0.59487	7.123000	0.77176	1.174000	0.42811	0.450000	0.29827	ACG		0.647	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1		
RHPN2	85415	hgsc.bcm.edu	37	19	33493188	33493188	+	Missense_Mutation	SNP	T	T	A	rs193179333	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr19:33493188T>A	ENST00000254260.3	-	9	1105	c.1070A>T	c.(1069-1071)cAc>cTc	p.H357L	RHPN2_ENST00000400226.4_Missense_Mutation_p.H206L	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	357	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.H357L(2)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					AGTGAAGTAGTGGGCCAGGGC	0.647																																																	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	19											45.0	42.0	43.0					19																	33493188		2203	4300	6503	38185028	SO:0001583	missense	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1070A>T	19.37:g.33493188T>A	ENSP00000254260:p.His357Leu		38185028	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.323917	0.81580	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.20598	2.06;2.06	4.61	4.61	0.57282	BRO1 domain (3);	0.045255	0.85682	D	0.000000	T	0.46619	0.1402	M	0.87269	2.87	0.80722	D	1	D	0.61080	0.989	P	0.58077	0.832	T	0.57934	-0.7725	10	0.87932	D	0	-27.93	14.3018	0.66357	0.0:0.0:0.0:1.0	.	357	Q8IUC4	RHPN2_HUMAN	L	357;87;206	ENSP00000254260:H357L;ENSP00000402244:H206L	ENSP00000254260:H357L	H	-	2	0	RHPN2	38185028	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.570000	0.82390	1.829000	0.53265	0.374000	0.22700	CAC		0.647	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103	
RHPN2	85415	hgsc.bcm.edu	37	19	33493200	33493201	+	Missense_Mutation	DNP	GC	GC	AT	rs200623446|rs201601538	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G|C	G|C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr19:33493200_33493201GC>AT	ENST00000254260.3	-	9	1092_1093	c.1057_1058GC>AT	c.(1057-1059)GCg>ATg	p.A353M	RHPN2_ENST00000400226.4_Missense_Mutation_p.A202M	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	353	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.A353T(2)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GGCCAGGGCCGCGTAGTGGTGG	0.639																																																	2	Substitution - Missense(2)	central_nervous_system(2)	19																																								38185040|38185041	SO:0001583	missense	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1057_1058delinsAT	19.37:g.33493200_33493201delinsAT	ENSP00000254260:p.Ala353Met		38185040|38185041	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1																																																																																				0.639	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103	
ZNF599	148103	hgsc.bcm.edu	37	19	35250005	35250005	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr19:35250005T>C	ENST00000329285.8	-	4	2074	c.1701A>G	c.(1699-1701)gaA>gaG	p.E567E		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	567					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TCTTTCCACATTCATTGCATT	0.403																																																	0			19											154.0	143.0	147.0					19																	35250005		2203	4300	6503	39941845	SO:0001819	synonymous_variant	148103			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1701A>G	19.37:g.35250005T>C			39941845	Q569K0|Q5PRG1	Silent	SNP	ENST00000329285.8	37	CCDS32991.1																																																																																				0.403	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046	
PSMC4	5704	hgsc.bcm.edu	37	19	40485749	40485749	+	Silent	SNP	G	G	A	rs11542837		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr19:40485749G>A	ENST00000157812.2	+	7	897	c.699G>A	c.(697-699)tcG>tcA	p.S233S	PSMC4_ENST00000455878.2_Silent_p.S202S	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	233					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S233S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCGTGGGCTCGGAGTTTGTAC	0.557																																					Colon(105;1478 1543 4034 6132 38638)												1	Substitution - coding silent(1)	ovary(1)	19						G	,	0,4406		0,0,2203	97.0	103.0	101.0		699,606	-12.1	0.0	19	dbSNP_120	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PSMC4	NM_006503.2,NM_153001.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	233/419,202/388	40485749	1,13005	2203	4300	6503	45177589	SO:0001819	synonymous_variant	5704			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.699G>A	19.37:g.40485749G>A			45177589	Q96FV5|Q9UBM3|Q9UEX3	Silent	SNP	ENST00000157812.2	37	CCDS12547.1																																																																																				0.557	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503	
CKM	1158	hgsc.bcm.edu	37	19	45815033	45815033	+	Silent	SNP	G	G	A	rs17875616	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr19:45815033G>A	ENST00000221476.3	-	5	801	c.627C>T	c.(625-627)cgC>cgT	p.R209R		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	209	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	CGGGCCAGTCGCGGGCCATGC	0.672																																																	0			19											30.0	24.0	26.0					19																	45815033		2202	4299	6501	50506873	SO:0001819	synonymous_variant	1158			M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.627C>T	19.37:g.45815033G>A			50506873	Q96QL9	Silent	SNP	ENST00000221476.3	37	CCDS12659.1																																																																																				0.672	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1		
LIG1	3978	hgsc.bcm.edu	37	19	48657140	48657140	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr19:48657140T>C	ENST00000263274.7	-	6	874	c.455A>G	c.(454-456)aAg>aGg	p.K152R	LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.K122R|LIG1_ENST00000599165.1_Intron	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	152			K -> E (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	ttcctcctccttcttcctctt	0.577								Nucleotide excision repair (NER)																																									0			19											196.0	113.0	141.0					19																	48657140		2203	4300	6503	53348952	SO:0001583	missense	26018				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.455A>G	19.37:g.48657140T>C	ENSP00000263274:p.Lys152Arg		53348952	B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	T	6.386	0.439422	0.12104	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526	T;T	0.58506	0.44;0.33	3.99	2.94	0.34122	.	0.866238	0.10215	N	0.701604	T	0.48714	0.1515	L	0.54323	1.7	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.001	T	0.28839	-1.0031	10	0.18710	T	0.47	-18.4584	7.3918	0.26913	0.0:0.0:0.2229:0.7771	.	122;152	B4DTU4;P18858	.;DNLI1_HUMAN	R	152;184;122	ENSP00000263274:K152R;ENSP00000442841:K122R	ENSP00000263274:K152R	K	-	2	0	LIG1	53348952	0.292000	0.24362	0.892000	0.35008	0.244000	0.25665	1.067000	0.30616	0.837000	0.34925	0.496000	0.49642	AAG		0.577	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234	
ZNF544	27300	hgsc.bcm.edu	37	19	58773800	58773800	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr19:58773800G>A	ENST00000596652.1	+	6	2062	c.1828G>A	c.(1828-1830)Gga>Aga	p.G610R	ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000415203.2_Missense_Mutation_p.G582R|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000269829.4_Missense_Mutation_p.G610R|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.G582R|ZNF544_ENST00000600220.1_Missense_Mutation_p.G582R|ZNF544_ENST00000599953.1_Missense_Mutation_p.G468R			Q6NX49	ZN544_HUMAN	zinc finger protein 544	610					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)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TAACGAGTGTGGAAAAGCCTT	0.448																																																	0			19											104.0	92.0	96.0					19																	58773800		2203	4300	6503	63465612	SO:0001583	missense	27300			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1828G>A	19.37:g.58773800G>A	ENSP00000469635:p.Gly610Arg		63465612	A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999695	0.54147	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	T;T	0.01484	4.84;4.84	3.68	2.63	0.31362	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06645	0.0170	M	0.75777	2.31	0.80722	D	1	D;D;D	0.69078	0.988;0.997;0.997	P;P;P	0.56865	0.791;0.808;0.808	T	0.10730	-1.0617	9	0.87932	D	0	.	11.3464	0.49563	0.0:0.3542:0.6458:0.0	.	582;582;610	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	R	610;582;162	ENSP00000269829:G610R;ENSP00000394341:G582R	ENSP00000269829:G610R	G	+	1	0	ZNF544	63465612	1.000000	0.71417	0.026000	0.17262	0.033000	0.12548	3.347000	0.52200	0.901000	0.36495	-0.257000	0.10917	GGA		0.448	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480	
PPP3CC	5533	hgsc.bcm.edu	37	8	22398232	22398232	+	Missense_Mutation	SNP	G	G	A	rs558233561		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr8:22398232G>A	ENST00000240139.5	+	14	1783	c.1456G>A	c.(1456-1458)Gct>Act	p.A486T	PPP3CC_ENST00000397775.3_Missense_Mutation_p.A495T|PPP3CC_ENST00000289963.8_Missense_Mutation_p.A476T|RP11-582J16.4_ENST00000514980.1_RNA	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	486				HA -> YP (in Ref. 1; AAB23769). {ECO:0000305}.	apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TAGCATACACGCTGGTGGGCC	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		16806	0.001		0.0	False		,,,				2504	0.0																0			8											85.0	81.0	82.0					8																	22398232		2203	4300	6503	22454177	SO:0001583	missense	5533				CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9316	protein-coding gene	gene with protein product	"""calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"""	114107	"""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"""			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.1456G>A	8.37:g.22398232G>A	ENSP00000240139:p.Ala486Thr		22454177	B4DRT5|Q9BSS6|Q9H4M5	Missense_Mutation	SNP	ENST00000240139.5	37	CCDS34859.1	.	.	.	.	.	.	.	.	.	.	G	6.906	0.536712	0.13188	.	.	ENSG00000120910	ENST00000240139;ENST00000289963;ENST00000397775	T;T;T	0.14022	2.55;2.54;2.55	5.29	-8.59	0.00893	.	2.814430	0.01025	N	0.004053	T	0.04998	0.0134	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.28490	-1.0042	10	0.19590	T	0.45	10.3949	2.5077	0.04649	0.0948:0.3114:0.2883:0.3055	.	495;476;486	B4DRT5;P48454-2;P48454	.;.;PP2BC_HUMAN	T	486;476;495	ENSP00000240139:A486T;ENSP00000289963:A476T;ENSP00000380878:A495T	ENSP00000240139:A486T	A	+	1	0	PPP3CC	22454177	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.530000	0.02221	-1.809000	0.01232	-1.744000	0.00683	GCT		0.532	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605	
KCNU1	157855	hgsc.bcm.edu	37	8	36788611	36788611	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr8:36788611G>A	ENST00000399881.3	+	25	2916	c.2879G>A	c.(2878-2880)cGg>cAg	p.R960Q	KCNU1_ENST00000518904.1_3'UTR	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	960					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GGAAGAAACCGGTGTAAGCTG	0.433																																																	0			8											139.0	134.0	136.0					8																	36788611		1902	4118	6020	36907769	SO:0001583	missense	157855			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2879G>A	8.37:g.36788611G>A	ENSP00000382770:p.Arg960Gln		36907769		Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936626	0.52972	.	.	ENSG00000215262	ENST00000399881	T	0.50548	0.74	5.41	4.54	0.55810	.	0.000000	0.34555	U	0.003866	T	0.44030	0.1274	M	0.70595	2.14	0.80722	D	1	P	0.35872	0.525	B	0.28638	0.092	T	0.49934	-0.8886	10	0.87932	D	0	-8.7265	11.1602	0.48512	0.0858:0.0:0.9142:0.0	.	960	A8MYU2	KCNU1_HUMAN	Q	960	ENSP00000382770:R960Q	ENSP00000382770:R960Q	R	+	2	0	KCNU1	36907769	1.000000	0.71417	0.935000	0.37517	0.011000	0.07611	4.824000	0.62701	1.287000	0.44583	-0.142000	0.14014	CGG		0.433	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
FABP12	646486	hgsc.bcm.edu	37	8	82439312	82439312	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr8:82439312G>T	ENST00000360464.4	-	3	353	c.291C>A	c.(289-291)gaC>gaA	p.D97E	RP11-257P3.3_ENST00000518637.1_RNA|RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	97							lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(3)	4						TGCCATCCCAGTCCTGAACTT	0.413																																																	0			8											98.0	88.0	92.0					8																	82439312		1903	4135	6038	82601867	SO:0001583	missense	646486				CCDS47882.1	8q21.13	2013-03-01			ENSG00000197416	ENSG00000197416		"""Fatty acid binding protein family"""	34524	protein-coding gene	gene with protein product						18786628	Standard	NM_001105281		Approved		uc011lfp.2	A6NFH5	OTTHUMG00000164679	ENST00000360464.4:c.291C>A	8.37:g.82439312G>T	ENSP00000353650:p.Asp97Glu		82601867	B7SUN0	Missense_Mutation	SNP	ENST00000360464.4	37	CCDS47882.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556156	0.27827	.	.	ENSG00000197416	ENST00000360464	T	0.06294	3.32	5.18	1.02	0.19986	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.364009	0.31134	N	0.008193	T	0.02610	0.0079	N	0.08118	0	0.26649	N	0.972148	B	0.14012	0.009	B	0.19946	0.027	T	0.37526	-0.9702	10	0.39692	T	0.17	.	1.325	0.02123	0.2365:0.1267:0.4045:0.2324	.	97	A6NFH5	FBP12_HUMAN	E	97	ENSP00000353650:D97E	ENSP00000353650:D97E	D	-	3	2	FABP12	82601867	0.711000	0.27906	0.986000	0.45419	0.582000	0.36321	-0.162000	0.10012	0.313000	0.23062	0.655000	0.94253	GAC		0.413	FABP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379720.1	NM_001105281	
PDP1	54704	hgsc.bcm.edu	37	8	94934356	94934356	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr8:94934356T>C	ENST00000297598.4	+	2	338	c.69T>C	c.(67-69)acT>acC	p.T23T	PDP1_ENST00000517764.1_Silent_p.T23T|PDP1_ENST00000396200.3_Silent_p.T48T|PDP1_ENST00000520728.1_Silent_p.T23T	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	23					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TCTATGGCACTGCATGTTACT	0.478																																																	0			8											176.0	155.0	162.0					8																	94934356		2203	4300	6503	95003532	SO:0001819	synonymous_variant	54704			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.69T>C	8.37:g.94934356T>C			95003532	B3KX71|J3KPU0|Q5U5K1	Silent	SNP	ENST00000297598.4	37	CCDS6259.1																																																																																				0.478	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444	
VPS13B	157680	hgsc.bcm.edu	37	8	100832314	100832314	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr8:100832314T>C	ENST00000358544.2	+	49	9144	c.9033T>C	c.(9031-9033)gtT>gtC	p.V3011V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.V2986V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3011					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCTACAGGTTCCTGCTGGCA	0.348																																					Colon(161;2205 2542 7338 31318)												0			8											93.0	101.0	98.0					8																	100832314		2203	4300	6503	100901490	SO:0001819	synonymous_variant	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9033T>C	8.37:g.100832314T>C			100901490	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	CCDS6280.1																																																																																				0.348	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
KLF10	7071	hgsc.bcm.edu	37	8	103663555	103663555	+	Silent	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr8:103663555G>A	ENST00000285407.6	-	3	1305	c.1005C>T	c.(1003-1005)agC>agT	p.S335S	KLF10_ENST00000395884.3_Silent_p.S324S	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	335					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TGCCATTCGGGCTCACCACCG	0.557																																					Esophageal Squamous(16;495 519 2144 16528 44005)												0			8											82.0	92.0	88.0					8																	103663555		2203	4300	6503	103732731	SO:0001819	synonymous_variant	7071			U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.1005C>T	8.37:g.103663555G>A			103732731	A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Silent	SNP	ENST00000285407.6	37	CCDS6294.1																																																																																				0.557	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1		
CSMD3	114788	hgsc.bcm.edu	37	8	113529390	113529390	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr8:113529390T>C	ENST00000297405.5	-	28	4873	c.4629A>G	c.(4627-4629)ggA>ggG	p.G1543G	CSMD3_ENST00000455883.2_Silent_p.G1439G|CSMD3_ENST00000343508.3_Silent_p.G1503G|CSMD3_ENST00000352409.3_Silent_p.G1543G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1543	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGTTCTCTTCCATCCCCAT	0.443										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0			8											94.0	84.0	88.0					8																	113529390		2203	4300	6503	113598566	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4629A>G	8.37:g.113529390T>C			113598566	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.443	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
SLC30A8	169026	hgsc.bcm.edu	37	8	118165303	118165303	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr8:118165303G>A	ENST00000456015.2	+	3	392	c.392G>A	c.(391-393)cGg>cAg	p.R131Q	SLC30A8_ENST00000519688.1_Missense_Mutation_p.R82Q|SLC30A8_ENST00000521243.1_Missense_Mutation_p.R82Q|SLC30A8_ENST00000427715.2_Missense_Mutation_p.R82Q	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	131					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CCCTCTAAGCGGCTGACATTT	0.512																																					Ovarian(162;1202 1922 6011 16223 52092)												0			8											112.0	82.0	92.0					8																	118165303		2203	4300	6503	118234484	SO:0001583	missense	169026				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.392G>A	8.37:g.118165303G>A	ENSP00000415011:p.Arg131Gln		118234484	A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	G	8.995	0.978758	0.18812	.	.	ENSG00000164756	ENST00000521243;ENST00000524274;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.37	-5.26	0.02772	.	0.812377	0.11451	N	0.562795	T	0.44307	0.1287	L	0.35542	1.07	0.09310	N	1	B	0.26120	0.142	B	0.28232	0.087	T	0.32268	-0.9913	10	0.24483	T	0.36	-1.0271	9.8645	0.41134	0.6541:0.2107:0.1352:0.0	.	131	Q8IWU4	ZNT8_HUMAN	Q	82;82;82;82;131	ENSP00000428545:R82Q;ENSP00000427760:R82Q;ENSP00000407505:R82Q;ENSP00000431069:R82Q;ENSP00000415011:R131Q	ENSP00000407505:R82Q	R	+	2	0	SLC30A8	118234484	0.001000	0.12720	0.003000	0.11579	0.324000	0.28378	-0.173000	0.09854	-1.007000	0.03408	-0.768000	0.03414	CGG		0.512	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851	
EFR3A	23167	hgsc.bcm.edu	37	8	132958829	132958829	+	Silent	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr8:132958829A>G	ENST00000254624.5	+	4	540	c.315A>G	c.(313-315)gcA>gcG	p.A105A	EFR3A_ENST00000519656.1_Silent_p.A69A|EFR3A_ENST00000334503.4_Silent_p.A105A	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	105						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ATATGGTGGCAAAGCTGCTGG	0.393																																																	0			8											69.0	66.0	67.0					8																	132958829		2203	4300	6503	133028011	SO:0001819	synonymous_variant	23167			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.315A>G	8.37:g.132958829A>G			133028011	A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Silent	SNP	ENST00000254624.5	37	CCDS34942.2																																																																																				0.393	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137	
TG	7038	hgsc.bcm.edu	37	8	133913707	133913707	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr8:133913707T>C	ENST00000220616.4	+	16	3583	c.3543T>C	c.(3541-3543)tgT>tgC	p.C1181C	TG_ENST00000377869.1_Silent_p.C1181C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1181	Thyroglobulin type-1 10. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGTGCAATGTGACCAGGCCC	0.627																																																	0			8											53.0	56.0	55.0					8																	133913707		2203	4300	6503	133982889	SO:0001819	synonymous_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3543T>C	8.37:g.133913707T>C			133982889	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	T	0.722	-0.783165	0.02907	.	.	ENSG00000042832	ENST00000518505	.	.	.	5.12	-8.47	0.00939	.	.	.	.	.	T	0.59998	0.2235	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67169	-0.5738	4	.	.	.	.	14.7477	0.69501	0.0:0.5674:0.0:0.4326	.	.	.	.	A	125	.	.	V	+	2	0	TG	133982889	0.005000	0.15991	0.009000	0.14445	0.010000	0.07245	-1.768000	0.01794	-1.836000	0.01190	-0.836000	0.03065	GTG		0.627	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
EEF1D	1936	hgsc.bcm.edu	37	8	144668984	144668984	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr8:144668984A>G	ENST00000529272.1	-	2	432	c.32T>C	c.(31-33)aTc>aCc	p.I11T	EEF1D_ENST00000532741.1_Missense_Mutation_p.I427T|EEF1D_ENST00000423316.2_Missense_Mutation_p.I377T|EEF1D_ENST00000531621.1_Missense_Mutation_p.I11T|EEF1D_ENST00000532400.1_Missense_Mutation_p.I11T|EEF1D_ENST00000395119.3_Missense_Mutation_p.I11T|EEF1D_ENST00000317198.6_Missense_Mutation_p.I11T|EEF1D_ENST00000526838.1_Missense_Mutation_p.I11T|EEF1D_ENST00000524624.1_Missense_Mutation_p.I11T|EEF1D_ENST00000528610.1_Missense_Mutation_p.I11T|EEF1D_ENST00000442189.2_Missense_Mutation_p.I377T|EEF1D_ENST00000419152.2_Missense_Mutation_p.I11T			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	11					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	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)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GTCGAACCAGATCTTCTCATG	0.547																																																	0			8											130.0	129.0	129.0					8																	144668984		2203	4300	6503	144740127	SO:0001583	missense	1936			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.32T>C	8.37:g.144668984A>G	ENSP00000434872:p.Ile11Thr		144740127	B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.897767	0.72639	.	.	ENSG00000104529	ENST00000419152;ENST00000532400;ENST00000532741;ENST00000526838;ENST00000442189;ENST00000528610;ENST00000395119;ENST00000529272;ENST00000423316;ENST00000356793;ENST00000317198;ENST00000337369;ENST00000531621;ENST00000524624;ENST00000534380;ENST00000534377;ENST00000533204;ENST00000530191;ENST00000531218;ENST00000533494;ENST00000530445;ENST00000529516;ENST00000533749;ENST00000526340;ENST00000525223;ENST00000532543;ENST00000531931	.	.	.	4.81	3.61	0.41365	.	0.218494	0.46442	D	0.000296	T	0.78310	0.4263	M	0.83953	2.67	0.45366	D	0.998357	B;D;D;B;D;D	0.89917	0.275;0.986;1.0;0.398;0.999;0.996	B;P;D;B;D;D	0.80764	0.158;0.82;0.994;0.21;0.986;0.912	T	0.79624	-0.1726	9	0.72032	D	0.01	.	11.0019	0.47611	0.8434:0.1566:0.0:0.0	.	11;377;329;11;427;377	E9PBQ9;D3DWK1;F8W934;P29692;E9PRY8;P29692-2	.;.;.;EF1D_HUMAN;.;.	T	11;11;427;11;377;11;11;11;377;329;11;377;11;11;11;11;11;11;11;11;11;11;27;11;11;11;11	.	ENSP00000317399:I11T	I	-	2	0	EEF1D	144740127	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.428000	0.90278	0.746000	0.32786	0.459000	0.35465	ATC		0.547	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378	
PLA2G2F	64600	hgsc.bcm.edu	37	1	20470056	20470056	+	Missense_Mutation	SNP	G	G	A	rs145617803	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:20470056G>A	ENST00000375102.3	+	3	389	c.287G>A	c.(286-288)cGt>cAt	p.R96H		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	53					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|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 metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CTGGGGGGCCGTGGCCAGCCC	0.642													G|||	9	0.00179712	0.0068	0.0	5008	,	,		18629	0.0		0.0	False		,,,				2504	0.0																0			1						G	HIS/ARG	14,4392	20.2+/-43.8	0,14,2189	74.0	66.0	69.0		287	-0.7	0.0	1	dbSNP_134	69	0,8600		0,0,4300	yes	missense	PLA2G2F	NM_022819.3	29	0,14,6489	AA,AG,GG		0.0,0.3177,0.1076	benign	96/212	20470056	14,12992	2203	4300	6503	20342643	SO:0001583	missense	64600			AL158172	CCDS204.2	1p35	2008-09-19			ENSG00000158786	ENSG00000158786	3.1.1.4		30040	protein-coding gene	gene with protein product						11112443	Standard	NM_022819		Approved		uc009vpp.1	Q9BZM2	OTTHUMG00000002704	ENST00000375102.3:c.287G>A	1.37:g.20470056G>A	ENSP00000364243:p.Arg96His		20342643	Q5R385|Q8N217|Q9H506	Missense_Mutation	SNP	ENST00000375102.3	37	CCDS204.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.66	2.004584	0.35320	0.003177	0.0	ENSG00000158786	ENST00000375102	T	0.28069	1.63	5.25	-0.689	0.11313	.	1.201530	0.05971	N	0.642339	T	0.25382	0.0617	L	0.45581	1.43	0.09310	N	1	B	0.21309	0.054	B	0.17098	0.017	T	0.29243	-1.0018	10	0.48119	T	0.1	-11.9822	4.5605	0.12158	0.2948:0.0:0.5703:0.135	.	96	Q9BZM2-2	.	H	96	ENSP00000364243:R96H	ENSP00000364243:R96H	R	+	2	0	PLA2G2F	20342643	0.000000	0.05858	0.037000	0.18230	0.935000	0.57460	0.013000	0.13310	-0.459000	0.07013	-0.309000	0.09137	CGT		0.642	PLA2G2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007687.1	NM_022819	
SYTL1	84958	hgsc.bcm.edu	37	1	27674052	27674052	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:27674052G>T	ENST00000543823.1	+	2	794	c.332G>T	c.(331-333)aGc>aTc	p.S111I	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.S111I			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	111				S -> N (in Ref. 1; AAK67636). {ECO:0000305}.	exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGGAAGAAGAGCACCAGGGGT	0.627																																																	0			1											52.0	50.0	51.0					1																	27674052		2203	4300	6503	27546639	SO:0001583	missense	84958			AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.332G>T	1.37:g.27674052G>T	ENSP00000440704:p.Ser111Ile		27546639	Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	ENST00000543823.1	37	CCDS53286.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361611	0.61403	.	.	ENSG00000142765	ENST00000318074;ENST00000543823	T;T	0.25912	1.77;1.79	4.54	4.54	0.55810	.	1.646450	0.03200	N	0.174586	T	0.45276	0.1334	L	0.60455	1.87	0.29116	N	0.880545	P;D;P;P	0.71674	0.832;0.998;0.832;0.895	B;D;B;B	0.65010	0.352;0.931;0.248;0.431	T	0.12268	-1.0554	10	0.29301	T	0.29	-2.7078	6.7561	0.23514	0.1923:0.0:0.8077:0.0	.	111;111;111;111	A8KAH3;G3V181;Q8IYJ3;Q8IYJ3-2	.;.;SYTL1_HUMAN;.	I	111	ENSP00000316464:S111I;ENSP00000440704:S111I	ENSP00000316464:S111I	S	+	2	0	SYTL1	27546639	0.571000	0.26659	0.930000	0.37139	0.854000	0.48673	0.616000	0.24344	2.340000	0.79590	0.561000	0.74099	AGC		0.627	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872	
ZMYM4	9202	hgsc.bcm.edu	37	1	35881235	35881235	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:35881235G>A	ENST00000314607.6	+	28	4309	c.4229G>A	c.(4228-4230)cGg>cAg	p.R1410Q	ZMYM4_ENST00000373297.2_Missense_Mutation_p.R1321Q	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1410			R -> W (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGATGAGACGGACCAGGACT	0.433																																																	0			1											147.0	130.0	136.0					1																	35881235		2203	4300	6503	35653822	SO:0001583	missense	9202			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.4229G>A	1.37:g.35881235G>A	ENSP00000322915:p.Arg1410Gln		35653822	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.754998	0.69648	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.21031	2.03;2.06	5.63	5.63	0.86233	.	0.052234	0.85682	D	0.000000	T	0.13030	0.0316	N	0.12887	0.27	0.54753	D	0.999985	P	0.38148	0.62	B	0.35312	0.2	T	0.10917	-1.0609	10	0.09843	T	0.71	-8.5764	20.0401	0.97581	0.0:0.0:1.0:0.0	.	1410	Q5VZL5	ZMYM4_HUMAN	Q	1410;1321	ENSP00000322915:R1410Q;ENSP00000362394:R1321Q	ENSP00000322915:R1410Q	R	+	2	0	ZMYM4	35653822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.496000	0.81526	2.805000	0.96524	0.655000	0.94253	CGG		0.433	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095	
MAST2	23139	hgsc.bcm.edu	37	1	46489483	46489483	+	Silent	SNP	C	C	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:46489483C>A	ENST00000361297.2	+	15	1894	c.1611C>A	c.(1609-1611)cgC>cgA	p.R537R	MAST2_ENST00000372009.2_Silent_p.R467R	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCCGGCAGCGCTTTGCCATGA	0.572																																																	0			1											77.0	77.0	77.0					1																	46489483		2203	4300	6503	46262070	SO:0001819	synonymous_variant	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1611C>A	1.37:g.46489483C>A			46262070		Silent	SNP	ENST00000361297.2	37	CCDS41326.1																																																																																				0.572	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112	
USP24	23358	hgsc.bcm.edu	37	1	55612632	55612632	+	Silent	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:55612632A>G	ENST00000294383.6	-	19	2219	c.2220T>C	c.(2218-2220)acT>acC	p.T740T	USP24_ENST00000407756.1_Silent_p.T580T	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	740					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.T657T(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CATCCTGGCCAGTTACAAGAC	0.388																																																	1	Substitution - coding silent(1)	ovary(1)	1											115.0	110.0	112.0					1																	55612632		1862	4105	5967	55385220	SO:0001819	synonymous_variant	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.2220T>C	1.37:g.55612632A>G			55385220	Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	CCDS44154.2																																																																																				0.388	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2		
PDE4B	5142	hgsc.bcm.edu	37	1	66834501	66834501	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:66834501T>A	ENST00000329654.4	+	16	1881	c.1694T>A	c.(1693-1695)cTg>cAg	p.L565Q	PDE4B_ENST00000480109.2_Missense_Mutation_p.L332Q|PDE4B_ENST00000423207.2_Missense_Mutation_p.L550Q|PDE4B_ENST00000371049.3_Missense_Mutation_p.L565Q|PDE4B_ENST00000371045.5_Missense_Mutation_p.L393Q	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	565					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	TGTGCAGACCTGAGCAACCCC	0.473																																																	0			1											108.0	100.0	103.0					1																	66834501		2203	4300	6503	66607089	SO:0001583	missense	5142			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1694T>A	1.37:g.66834501T>A	ENSP00000332116:p.Leu565Gln		66607089	A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	CCDS632.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.979798	0.74360	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	4.44	4.44	0.53790	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.64402	D	0.000001	D	0.94801	0.8321	H	0.96269	3.795	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	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.96175	0.9126	10	0.87932	D	0	.	13.8025	0.63208	0.0:0.0:0.0:1.0	.	332;550;435;555;565	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	Q	565;565;565;550;393;332	ENSP00000332116:L565Q;ENSP00000342637:L565Q;ENSP00000360088:L565Q;ENSP00000392947:L550Q;ENSP00000360084:L393Q;ENSP00000432592:L332Q	ENSP00000332116:L565Q	L	+	2	0	PDE4B	66607089	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	1.984000	0.57885	0.460000	0.39030	CTG		0.473	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600	
GTF2B	2959	hgsc.bcm.edu	37	1	89325834	89325834	+	Silent	SNP	G	G	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:89325834G>T	ENST00000370500.5	-	4	512	c.394C>A	c.(394-396)Cga>Aga	p.R132R	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	132			R -> Q (in a colorectal 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)	nucleoplasm (GO:0005654)	core promoter binding (GO:0001047)|thyroid hormone receptor binding (GO:0046966)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		ACTATATTTCGAGGTAGATTG	0.363																																																	0			1											148.0	135.0	140.0					1																	89325834		2203	4300	6503	89098422	SO:0001819	synonymous_variant	2959			M76766	CCDS715.1	1p22-p21	2010-03-23			ENSG00000137947	ENSG00000137947		"""General transcription factors"""	4648	protein-coding gene	gene with protein product		189963				1876184, 8162052	Standard	NM_001514		Approved	TFIIB	uc001dmo.4	Q00403	OTTHUMG00000010611	ENST00000370500.5:c.394C>A	1.37:g.89325834G>T			89098422	A8K1A7|Q5JS30	Silent	SNP	ENST00000370500.5	37	CCDS715.1																																																																																				0.363	GTF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029279.1	NM_001514	
ZNF644	84146	hgsc.bcm.edu	37	1	91406753	91406753	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:91406753T>C	ENST00000370440.1	-	3	375	c.158A>G	c.(157-159)gAg>gGg	p.E53G	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.E53G|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	53			E -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AACTCCGCTCTCTTTGTCTGA	0.373																																																	0			1											156.0	159.0	158.0					1																	91406753		2203	4300	6503	91179341	SO:0001583	missense	84146			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.158A>G	1.37:g.91406753T>C	ENSP00000359469:p.Glu53Gly		91179341	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	CCDS731.1	.	.	.	.	.	.	.	.	.	.	T	12.08	1.829797	0.32329	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00603	6.28;6.28	5.9	5.9	0.94986	.	0.160556	0.43919	D	0.000514	T	0.00300	0.0009	N	0.24115	0.695	0.34389	D	0.69401	B	0.23377	0.084	B	0.19148	0.024	T	0.63148	-0.6702	10	0.66056	D	0.02	-4.1234	16.3291	0.83001	0.0:0.0:0.0:1.0	.	53	Q9H582	ZN644_HUMAN	G	53	ENSP00000359469:E53G;ENSP00000337008:E53G	ENSP00000337008:E53G	E	-	2	0	ZNF644	91179341	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	4.130000	0.57964	2.257000	0.74773	0.528000	0.53228	GAG		0.373	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186	
EVI5	7813	hgsc.bcm.edu	37	1	93070951	93070951	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:93070951T>C	ENST00000370331.1	-	16	1944	c.1935A>G	c.(1933-1935)gaA>gaG	p.E645E	EVI5_ENST00000543509.1_Silent_p.E656E|EVI5_ENST00000540033.1_Silent_p.E645E|EVI5_ENST00000491940.1_5'UTR	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	645	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CCATCACTTCTTCCTTATTCT	0.403																																																	0			1											115.0	110.0	112.0					1																	93070951		2203	4300	6503	92843539	SO:0001819	synonymous_variant	7813			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1935A>G	1.37:g.93070951T>C			92843539	A6NKX8|B9A6J0|Q9H1Y9	Silent	SNP	ENST00000370331.1	37	CCDS30774.1																																																																																				0.403	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665	
CCDC18	343099	hgsc.bcm.edu	37	1	93680445	93680445	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:93680445T>C	ENST00000343253.7	+	12	2140	c.1638T>C	c.(1636-1638)gcT>gcC	p.A546A	CCDC18_ENST00000401026.3_Silent_p.A547A|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Silent_p.A665A|CCDC18_ENST00000338949.4_Silent_p.A346A			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	546										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTAACATGGCTCACAGAACTA	0.388																																																	0			1											50.0	48.0	48.0					1																	93680445		1842	4098	5940	93453033	SO:0001819	synonymous_variant	343099					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1638T>C	1.37:g.93680445T>C			93453033	Q6ZU17	Silent	SNP	ENST00000343253.7	37		.	.	.	.	.	.	.	.	.	.	T	10.58	1.391220	0.25118	.	.	ENSG00000122483	ENST00000370276	.	.	.	5.16	-3.14	0.05250	.	.	.	.	.	T	0.32466	0.0830	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39143	-0.9628	4	.	.	.	.	6.1446	0.20278	0.2055:0.2453:0.0:0.5491	.	.	.	.	P	600	.	.	L	+	2	0	CCDC18	93453033	0.673000	0.27539	0.990000	0.47175	0.999000	0.98932	-0.434000	0.06939	-0.480000	0.06803	0.533000	0.62120	CTC		0.388	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886	
ARHGAP29	9411	hgsc.bcm.edu	37	1	94645386	94645386	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:94645386A>G	ENST00000260526.6	-	20	2557	c.2375T>C	c.(2374-2376)aTg>aCg	p.M792T	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	792	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTCTATACACATATTTGGCCA	0.308																																																	0			1											154.0	150.0	152.0					1																	94645386		2203	4295	6498	94417974	SO:0001583	missense	9411				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2375T>C	1.37:g.94645386A>G	ENSP00000260526:p.Met792Thr		94417974	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	CCDS748.1	.	.	.	.	.	.	.	.	.	.	A	3.019	-0.202144	0.06219	.	.	ENSG00000137962	ENST00000260526	T	0.19669	2.13	5.8	-1.35	0.09114	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.873453	0.09480	N	0.796497	T	0.01320	0.0043	N	0.01168	-0.975	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48281	-0.9049	10	0.07813	T	0.8	0.0157	6.1709	0.20416	0.5417:0.0:0.338:0.1203	.	792;792	F8VWZ8;Q52LW3	.;RHG29_HUMAN	T	792	ENSP00000260526:M792T	ENSP00000260526:M792T	M	-	2	0	ARHGAP29	94417974	0.000000	0.05858	0.000000	0.03702	0.985000	0.73830	0.803000	0.27083	-0.019000	0.14055	0.528000	0.53228	ATG		0.308	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815	
NRAS	4893	hgsc.bcm.edu	37	1	115256539	115256539	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:115256539T>C	ENST00000369535.4	-	3	425	c.172A>G	c.(172-174)Aca>Gca	p.T58A		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	58					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|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)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|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)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTCCAGCTGTATCCAGTATG	0.478		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																														Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"""L, E"""	0			1											178.0	156.0	163.0					1																	115256539		2203	4300	6503	115058062	SO:0001583	missense	4893	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.172A>G	1.37:g.115256539T>C	ENSP00000358548:p.Thr58Ala		115058062	Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.823958	0.90873	.	.	ENSG00000213281	ENST00000369535	D	0.87491	-2.26	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000022	D	0.94476	0.8222	H	0.94620	3.56	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.95798	0.8830	10	0.72032	D	0.01	.	15.0132	0.71565	0.0:0.0:0.0:1.0	.	58	P01111	RASN_HUMAN	A	58	ENSP00000358548:T58A	ENSP00000358548:T58A	T	-	1	0	NRAS	115058062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	ACA		0.478	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524	
NRAS	4893	hgsc.bcm.edu	37	1	115258728	115258728	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:115258728T>C	ENST00000369535.4	-	2	307	c.54A>G	c.(52-54)gcA>gcG	p.A18A	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	18					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|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)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|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)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGATTGTCAGTGCGCTTTTCC	0.493		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																														Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"""L, E"""	0			1											214.0	188.0	197.0					1																	115258728		2203	4300	6503	115060251	SO:0001819	synonymous_variant	4893	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.54A>G	1.37:g.115258728T>C			115060251	Q14971|Q15104|Q15282	Silent	SNP	ENST00000369535.4	37	CCDS877.1																																																																																				0.493	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524	
FLG	2312	hgsc.bcm.edu	37	1	152282661	152282661	+	Silent	SNP	C	C	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:152282661C>A	ENST00000368799.1	-	3	4736	c.4701G>T	c.(4699-4701)cgG>cgT	p.R1567R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1567	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGCCGGCCCGAGTGGAAG	0.582									Ichthyosis																																								0			1											188.0	198.0	195.0					1																	152282661		2203	4300	6503	150549285	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4701G>T	1.37:g.152282661C>A			150549285	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
C1orf68	100129271	hgsc.bcm.edu	37	1	152692263	152692263	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:152692263T>C	ENST00000368775.2	+	1	266	c.266T>C	c.(265-267)gTg>gCg	p.V89A		NM_001024679.2	NP_001019850.1	Q5T750	XP32_HUMAN	chromosome 1 open reading frame 68	89	Cys-rich.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|lung(2)|prostate(1)|stomach(3)	8						CAAACCTATGTGAAGTGCCCA	0.527																																																	0			1											206.0	206.0	206.0					1																	152692263		692	1591	2283	150958887	SO:0001583	missense	100129271			AF005081	CCDS44226.1	1q21.3	2014-05-30			ENSG00000198854	ENSG00000198854			29468	protein-coding gene	gene with protein product						11698679	Standard	NM_001024679		Approved	LEP7	uc010pdu.2	Q5T750	OTTHUMG00000012401	ENST00000368775.2:c.266T>C	1.37:g.152692263T>C	ENSP00000357764:p.Val89Ala		150958887	O14634	Missense_Mutation	SNP	ENST00000368775.2	37	CCDS44226.1	.	.	.	.	.	.	.	.	.	.	T	6.283	0.420277	0.11928	.	.	ENSG00000198854	ENST00000362017;ENST00000368775	T;T	0.27402	1.67;1.67	5.2	2.84	0.33178	.	0.618919	0.13444	N	0.387414	T	0.11410	0.0278	L	0.55990	1.75	0.29392	N	0.862532	B	0.12013	0.005	B	0.11329	0.006	T	0.20306	-1.0279	10	0.59425	D	0.04	-0.5247	4.8926	0.13735	0.1622:0.0883:0.0:0.7495	.	89	Q5T750	XP32_HUMAN	A	89	ENSP00000354769:V89A;ENSP00000357764:V89A	ENSP00000354769:V89A	V	+	2	0	C1orf68	150958887	0.991000	0.36638	0.477000	0.27303	0.025000	0.11179	1.257000	0.32932	0.384000	0.24942	-1.548000	0.00902	GTG		0.527	C1orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034521.2	NM_001024679	
HSD17B7	51478	hgsc.bcm.edu	37	1	162773313	162773313	+	Silent	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:162773313G>A	ENST00000254521.3	+	6	790	c.735G>A	c.(733-735)ccG>ccA	p.P245P	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Intron	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	245					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.P245P(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TGTTGATGCCGGCAATATTGC	0.388																																																	1	Substitution - coding silent(1)	ovary(1)	1											122.0	107.0	112.0					1																	162773313		2203	4300	6503	161039937	SO:0001819	synonymous_variant	158160			AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.735G>A	1.37:g.162773313G>A			161039937	Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Silent	SNP	ENST00000254521.3	37	CCDS1242.1																																																																																				0.388	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371	
NME7	29922	hgsc.bcm.edu	37	1	169267823	169267823	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:169267823C>T	ENST00000367811.3	-	6	875	c.619G>A	c.(619-621)Ggc>Agc	p.G207S	NME7_ENST00000472647.1_Missense_Mutation_p.G171S|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	207					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GAATCAGGGCCATGCGCTGCA	0.418																																																	0			1											99.0	104.0	102.0					1																	169267823		2203	4300	6503	167534447	SO:0001583	missense	29922			AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.619G>A	1.37:g.169267823C>T	ENSP00000356785:p.Gly207Ser		167534447	A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142795	0.94560	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.58940	0.3;0.3	5.74	5.74	0.90152	.	0.046015	0.85682	D	0.000000	T	0.75989	0.3925	M	0.90369	3.11	0.48452	D	0.999659	P;P	0.46142	0.873;0.616	P;P	0.58577	0.841;0.83	T	0.78130	-0.2324	9	0.52906	T	0.07	-12.2602	19.5303	0.95226	0.0:1.0:0.0:0.0	.	211;207	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	S	171;207	ENSP00000433341:G171S;ENSP00000356785:G207S	ENSP00000356785:G207S	G	-	1	0	NME7	167534447	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	6.670000	0.74467	2.703000	0.92315	0.643000	0.83706	GGC		0.418	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330	
PAPPA2	60676	hgsc.bcm.edu	37	1	176668548	176668548	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:176668548T>C	ENST00000367662.3	+	8	4223	c.3059T>C	c.(3058-3060)gTg>gCg	p.V1020A		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1020					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTGTCGGGGGTGAAAGTCTAC	0.537																																																	0			1											139.0	145.0	143.0					1																	176668548		2108	4239	6347	174935171	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3059T>C	1.37:g.176668548T>C	ENSP00000356634:p.Val1020Ala		174935171	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.316417	0.40996	.	.	ENSG00000116183	ENST00000367662	T	0.47869	0.83	5.38	1.81	0.25067	Fibronectin, type III (2);	0.320145	0.33875	N	0.004479	T	0.36358	0.0964	L	0.46157	1.445	0.80722	D	1	B	0.21309	0.054	B	0.24394	0.053	T	0.10132	-1.0643	10	0.41790	T	0.15	-7.2083	6.0406	0.19732	0.0:0.1478:0.1381:0.714	.	1020	Q9BXP8	PAPP2_HUMAN	A	1020	ENSP00000356634:V1020A	ENSP00000356634:V1020A	V	+	2	0	PAPPA2	174935171	1.000000	0.71417	0.970000	0.41538	0.723000	0.41478	3.626000	0.54245	0.143000	0.18926	0.533000	0.62120	GTG		0.537	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
TOR1AIP1	26092	hgsc.bcm.edu	37	1	179887078	179887078	+	Missense_Mutation	SNP	G	G	A	rs138345857		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:179887078G>A	ENST00000606911.2	+	10	1647	c.1456G>A	c.(1456-1458)Gca>Aca	p.A486T	TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.A365T|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.A502T|TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.A487T			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	486	Interaction with TOR1A.				positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						GTCATTTCCCGCAGGCTCTAC	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20120	0.0		0.0	False		,,,				2504	0.0																0			1						G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	88.0	92.0	91.0		1456	4.1	0.1	1	dbSNP_134	91	1,8599		0,1,4299	no	missense	TOR1AIP1	NM_015602.2	58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	486/584	179887078	2,13004	2203	4300	6503	178153701	SO:0001583	missense	26092				CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.1456G>A	1.37:g.179887078G>A	ENSP00000476687:p.Ala486Thr		178153701	A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	ENST00000606911.2	37	CCDS1335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.32|19.32	3.805398|3.805398	0.70682|0.70682	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000143337|ENSG00000143337	ENST00000325993|ENST00000271583;ENST00000435319	.|T;T	.|0.35789	.|1.29;1.29	5.96|5.96	4.09|4.09	0.47781|0.47781	.|.	.|0.107189	.|0.64402	.|D	.|0.000004	.|T	.|0.57932	.|0.2087	M|M	0.78049|0.78049	2.395|2.395	0.37695|0.37695	D|D	0.923987|0.923987	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	.|T	.|0.63444	.|-0.6636	.|9	.|.	.|.	.|.	.|-18.6137	10.2687|10.2687	0.43470|0.43470	0.0677:0.2546:0.6776:0.0|0.0677:0.2546:0.6776:0.0	.|.	.|486	.|Q5JTV8	.|TOIP1_HUMAN	.|T	-1|502;486	.|ENSP00000271583:A502T;ENSP00000393292:A486T	.|.	.|A	+|+	.|1	.|0	TOR1AIP1|TOR1AIP1	178153701|178153701	1.000000|1.000000	0.71417|0.71417	0.120000|0.120000	0.21714|0.21714	0.840000|0.840000	0.47671|0.47671	6.660000|6.660000	0.74417|0.74417	0.854000|0.854000	0.35336|0.35336	-0.150000|-0.150000	0.13652|0.13652	.|GCA		0.443	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602	
PRG4	10216	hgsc.bcm.edu	37	1	186276728	186276728	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:186276728C>T	ENST00000445192.2	+	7	1922	c.1877C>T	c.(1876-1878)cCc>cTc	p.P626L	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.P533L|PRG4_ENST00000367486.3_Missense_Mutation_p.P583L|PRG4_ENST00000367483.4_Missense_Mutation_p.P585L	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	626	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AAGCTCACGCCCACCACCCCC	0.677																																																	0			1											43.0	42.0	43.0					1																	186276728		2203	4294	6497	184543351	SO:0001583	missense	23572			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1877C>T	1.37:g.186276728C>T	ENSP00000399679:p.Pro626Leu		184543351	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	C	7.471	0.646746	0.14516	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.09350	2.99;3.07;3.02;3.12	3.23	1.28	0.21552	.	0.000000	0.38058	U	0.001835	T	0.08313	0.0207	L	0.34521	1.04	0.25633	N	0.986286	P;P;P;P	0.42908	0.793;0.793;0.689;0.793	B;B;B;B	0.42163	0.378;0.378;0.21;0.378	T	0.24154	-1.0168	9	.	.	.	.	7.3579	0.26729	0.0:0.7627:0.0:0.2373	.	492;533;626;585	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	L	583;492;585;533;626	ENSP00000356456:P583L;ENSP00000356453:P585L;ENSP00000356455:P533L;ENSP00000399679:P626L	.	P	+	2	0	PRG4	184543351	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.611000	0.24268	0.059000	0.16252	-0.480000	0.04831	CCC		0.677	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
NR5A2	2494	hgsc.bcm.edu	37	1	200012984	200012984	+	Silent	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:200012984G>A	ENST00000367362.3	+	3	531	c.285G>A	c.(283-285)ggG>ggA	p.G95G	NR5A2_ENST00000236914.3_Silent_p.G49G|NR5A2_ENST00000544748.1_Silent_p.G23G	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	95					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AAGTGTCTGGGTACCATTATG	0.398																																					Melanoma(179;1138 2773 15678 26136)												0			1											108.0	100.0	103.0					1																	200012984		2203	4300	6503	198279607	SO:0001819	synonymous_variant	2494			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.285G>A	1.37:g.200012984G>A			198279607	B4E2P3|O95642|Q147U3	Silent	SNP	ENST00000367362.3	37	CCDS1401.1	.	.	.	.	.	.	.	.	.	.	G	9.987	1.229863	0.22542	.	.	ENSG00000116833	ENST00000367357	D	0.98701	-5.08	5.91	0.552	0.17230	.	0.000000	0.85682	D	0.000000	D	0.97291	0.9114	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.93356	0.6722	6	.	.	.	.	6.1296	0.20197	0.2639:0.3482:0.3879:0.0	.	.	.	.	D	16	ENSP00000356326:G16D	.	G	+	2	0	NR5A2	198279607	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	0.899000	0.28417	-0.136000	0.11475	-0.172000	0.13284	GGT		0.398	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2		
TMEM206	55248	hgsc.bcm.edu	37	1	212538603	212538603	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:212538603T>C	ENST00000261455.4	-	8	1144	c.1007A>G	c.(1006-1008)aAg>aGg	p.K336R	TMEM206_ENST00000535273.1_Missense_Mutation_p.K397R	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	336			K -> N (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			cell surface (GO:0009986)|integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		AAGGTATCTCTTTCTAATTTT	0.428																																																	0			1											222.0	213.0	216.0					1																	212538603		2203	4300	6503	210605226	SO:0001583	missense	55248			AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.1007A>G	1.37:g.212538603T>C	ENSP00000261455:p.Lys336Arg		210605226	B7Z4D6|Q6IA87|Q9NV85	Missense_Mutation	SNP	ENST00000261455.4	37	CCDS1504.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.090053	0.36855	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	5.91	1.08	0.20341	.	0.175979	0.64402	N	0.000010	T	0.35248	0.0925	N	0.20986	0.625	0.35576	D	0.805866	B;B	0.14805	0.011;0.0	B;B	0.16722	0.016;0.004	T	0.22836	-1.0205	9	0.33940	T	0.23	-27.1738	10.6969	0.45905	0.0:0.3769:0.0:0.6231	.	397;336	B7Z4D6;Q9H813	.;TM206_HUMAN	R	336;397	.	ENSP00000261455:K336R	K	-	2	0	TMEM206	210605226	1.000000	0.71417	0.023000	0.16930	0.994000	0.84299	1.695000	0.37763	-0.054000	0.13266	0.528000	0.53228	AAG		0.428	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252	
USH2A	7399	hgsc.bcm.edu	37	1	216256828	216256828	+	Silent	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:216256828A>G	ENST00000307340.3	-	26	5654	c.5268T>C	c.(5266-5268)gtT>gtC	p.V1756V	RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Silent_p.V1756V|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1756	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		CTTTGTTATAAACGAAAAGAA	0.303										HNSCC(13;0.011)																																							0			1											96.0	100.0	98.0					1																	216256828		2202	4299	6501	214323451	SO:0001819	synonymous_variant	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.5268T>C	1.37:g.216256828A>G			214323451	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.303	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
DNAH14	127602	hgsc.bcm.edu	37	1	225506293	225506293	+	Silent	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:225506293C>T	ENST00000445597.2	+	41	7011	c.7011C>T	c.(7009-7011)gcC>gcT	p.A2337A	DNAH14_ENST00000430092.1_Silent_p.A2990A|DNAH14_ENST00000439375.2_Silent_p.A2990A			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	2337					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						AGAAAACTGCCAATGAACTAA	0.358																																																	0			1											135.0	118.0	123.0					1																	225506293		692	1591	2283	223572916	SO:0001819	synonymous_variant	127602			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.7011C>T	1.37:g.225506293C>T			223572916	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Silent	SNP	ENST00000445597.2	37																																																																																					0.358	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000331217.3	XM_059166	
ACTN2	88	hgsc.bcm.edu	37	1	236918421	236918421	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr1:236918421G>A	ENST00000366578.4	+	17	2243	c.2077G>A	c.(2077-2079)Gac>Aac	p.D693N	ACTN2_ENST00000542672.1_Missense_Mutation_p.D693N|ACTN2_ENST00000546208.1_Missense_Mutation_p.D187N	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	693					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.D693N(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAACAACATCGACAAGCTGGA	0.527																																																	1	Substitution - Missense(1)	ovary(1)	1											201.0	192.0	195.0					1																	236918421		2203	4300	6503	234985044	SO:0001583	missense	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2077G>A	1.37:g.236918421G>A	ENSP00000355537:p.Asp693Asn		234985044	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574577	0.65878	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.51574	0.7;0.7;0.7	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.62429	0.2427	L	0.47716	1.5	0.80722	D	1	D;B;D;D	0.76494	0.999;0.028;0.999;0.995	D;B;D;D	0.87578	0.998;0.057;0.998;0.987	T	0.61168	-0.7117	10	0.36615	T	0.2	.	17.4718	0.87648	0.0:0.0:1.0:0.0	.	478;693;463;693	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	N	693;693;187;462	ENSP00000443495:D693N;ENSP00000355537:D693N;ENSP00000438384:D187N	ENSP00000355537:D693N	D	+	1	0	ACTN2	234985044	1.000000	0.71417	0.986000	0.45419	0.968000	0.65278	9.835000	0.99442	2.100000	0.63781	0.557000	0.71058	GAC		0.527	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103	
RIC3	79608	hgsc.bcm.edu	37	11	8132395	8132395	+	Silent	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr11:8132395A>G	ENST00000309737.6	-	6	959	c.960T>C	c.(958-960)gcT>gcC	p.A320A	RIC3_ENST00000425599.2_Silent_p.A239A|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Silent_p.A271A|RIC3_ENST00000343202.4_Silent_p.A319A|RIC3_ENST00000335425.7_Silent_p.A138A|RIC3_ENST00000396677.2_Silent_p.A158A			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	320					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CACTGAATCCAGCATTCTCTG	0.473																																																	0			11											139.0	128.0	132.0					11																	8132395		2201	4296	6497	8088971	SO:0001819	synonymous_variant	79608				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.960T>C	11.37:g.8132395A>G			8088971	B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Silent	SNP	ENST00000309737.6	37	CCDS55742.1																																																																																				0.473	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557	
PIK3C2A	5286	hgsc.bcm.edu	37	11	17126781	17126781	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr11:17126781A>G	ENST00000265970.7	-	22	3615	c.3616T>C	c.(3616-3618)Ttt>Ctt	p.F1206L	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.F826L	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1206	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)	p.F1206L(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TTATCTTTAAAGGATCCTGTC	0.383																																																	1	Substitution - Missense(1)	central_nervous_system(1)	11											104.0	99.0	101.0					11																	17126781		2200	4293	6493	17083357	SO:0001583	missense	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.3616T>C	11.37:g.17126781A>G	ENSP00000265970:p.Phe1206Leu		17083357	B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	A	35	5.430685	0.96150	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.80566	-1.39;-1.39	5.64	5.64	0.86602	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.87410	0.6170	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.86555	0.1837	10	0.38643	T	0.18	-20.0574	15.8745	0.79151	1.0:0.0:0.0:0.0	.	1206	O00443	P3C2A_HUMAN	L	1206;826	ENSP00000265970:F1206L;ENSP00000438687:F826L	ENSP00000265970:F1206L	F	-	1	0	PIK3C2A	17083357	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.201000	0.95017	2.151000	0.67156	0.459000	0.35465	TTT		0.383	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645	
KIF18A	81930	hgsc.bcm.edu	37	11	28058013	28058013	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr11:28058013T>C	ENST00000263181.6	-	14	2437	c.2147A>G	c.(2146-2148)aAt>aGt	p.N716S		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	716					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TGTAGACGGATTTTGAAAAGC	0.358																																																	0			11											117.0	119.0	118.0					11																	28058013		2202	4298	6500	28014589	SO:0001583	missense	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2147A>G	11.37:g.28058013T>C	ENSP00000263181:p.Asn716Ser		28014589	Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	T	7.188	0.590943	0.13812	.	.	ENSG00000121621	ENST00000263181	T	0.71103	-0.54	5.87	2.29	0.28610	.	0.282420	0.34932	N	0.003561	T	0.49864	0.1582	L	0.47716	1.5	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.34204	-0.9838	10	0.02654	T	1	.	1.0649	0.01608	0.1392:0.192:0.1795:0.4893	.	716	Q8NI77	KI18A_HUMAN	S	716	ENSP00000263181:N716S	ENSP00000263181:N716S	N	-	2	0	KIF18A	28014589	0.081000	0.21417	0.001000	0.08648	0.314000	0.28054	0.301000	0.19174	0.201000	0.20466	0.533000	0.62120	AAT		0.358	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217	
OR4A16	81327	hgsc.bcm.edu	37	11	55110866	55110866	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr11:55110866T>C	ENST00000314721.2	+	1	240	c.190T>C	c.(190-192)Ttg>Ctg	p.L64L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L64L(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CCTTGCCTACTTGTCACTTAT	0.443																																																	1	Substitution - coding silent(1)	large_intestine(1)	11											179.0	166.0	171.0					11																	55110866		2201	4296	6497	54867442	SO:0001819	synonymous_variant	81327			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.190T>C	11.37:g.55110866T>C			54867442	Q6IFL3	Silent	SNP	ENST00000314721.2	37	CCDS31499.1																																																																																				0.443	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274	
OR5D14	219436	hgsc.bcm.edu	37	11	55563737	55563737	+	Missense_Mutation	SNP	C	C	T	rs145440752	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr11:55563737C>T	ENST00000335605.1	+	1	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	236						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)				TGTTAGTGGGCGCCACAAAGC	0.463													c|||	5	0.000998403	0.003	0.0014	5008	,	,		18723	0.0		0.0	False		,,,				2504	0.0																0			11						C	CYS/ARG	2,4398	4.2+/-10.8	0,2,2198	131.0	122.0	125.0		706	0.6	0.0	11	dbSNP_134	125	12,8580	8.4+/-32.0	0,12,4284	yes	missense	OR5D14	NM_001004735.1	180	0,14,6482	TT,TC,CC		0.1397,0.0455,0.1078	benign	236/315	55563737	14,12978	2200	4296	6496	55320313	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.706C>T	11.37:g.55563737C>T	ENSP00000334456:p.Arg236Cys		55320313	Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	CCDS31508.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	c	4.361	0.066473	0.08388	4.55E-4	0.001397	ENSG00000186113	ENST00000335605	T	0.00337	8.05	5.08	0.556	0.17253	GPCR, rhodopsin-like superfamily (1);	0.172823	0.25774	N	0.028382	T	0.00271	0.0008	M	0.90759	3.145	0.09310	N	1	B	0.26512	0.151	B	0.29524	0.103	T	0.43702	-0.9375	10	0.66056	D	0.02	-3.9031	4.8553	0.13555	0.4904:0.3237:0.0:0.1859	.	236	Q8NGL3	OR5DE_HUMAN	C	236	ENSP00000334456:R236C	ENSP00000334456:R236C	R	+	1	0	OR5D14	55320313	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.501000	0.06398	0.180000	0.19960	-0.195000	0.12781	CGC		0.463	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735	
OR8H3	390152	hgsc.bcm.edu	37	11	55890336	55890336	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr11:55890336T>C	ENST00000313472.3	+	1	488	c.488T>C	c.(487-489)aTg>aCg	p.M163T		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GTGGTTTCCATGAGCAGATTG	0.433																																																	0			11											240.0	213.0	222.0					11																	55890336		2201	4296	6497	55646912	SO:0001583	missense	390152			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.488T>C	11.37:g.55890336T>C	ENSP00000323928:p.Met163Thr		55646912	Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.374414	0.00015	.	.	ENSG00000181761	ENST00000313472	T	0.00016	9.11	3.62	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	0.090906	0.49305	D	0.000150	T	0.00039	0.0001	N	0.04297	-0.235	0.09310	N	1	B	0.27068	0.167	B	0.30572	0.117	T	0.20974	-1.0259	10	0.02654	T	1	.	4.9378	0.13950	0.0:0.1752:0.165:0.6598	.	163	Q8N146	OR8H3_HUMAN	T	163	ENSP00000323928:M163T	ENSP00000323928:M163T	M	+	2	0	OR8H3	55646912	0.000000	0.05858	0.016000	0.15963	0.076000	0.17211	-0.308000	0.08156	1.415000	0.47037	0.145000	0.16022	ATG		0.433	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201	
MEN1	4221	hgsc.bcm.edu	37	11	64571899	64571899	+	Silent	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr11:64571899C>T	ENST00000337652.1	-	10	2258	c.1755G>A	c.(1753-1755)acG>acA	p.T585T	MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000377313.1_Silent_p.T585T|MEN1_ENST00000394376.1_Silent_p.T585T|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000443283.1_Silent_p.T585T|MEN1_ENST00000377316.2_Silent_p.T525T|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000315422.4_Silent_p.T580T|MEN1_ENST00000394374.2_Silent_p.T585T|MEN1_ENST00000312049.6_Silent_p.T580T|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377321.1_Silent_p.T545T|MEN1_ENST00000377326.3_Silent_p.T580T	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	585					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GCGACTGTGCCGTGAGTTGCA	0.542			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)		yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	0			11											241.0	215.0	224.0					11																	64571899		2201	4297	6498	64328475	SO:0001819	synonymous_variant	4221	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1755G>A	11.37:g.64571899C>T			64328475	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000337652.1	37	CCDS8083.1																																																																																				0.542	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1		
TYR	7299	hgsc.bcm.edu	37	11	89028403	89028403	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr11:89028403G>T	ENST00000263321.5	+	5	1961	c.1459G>T	c.(1459-1461)Gtc>Ttc	p.V487F		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	487					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	GGTAGGGGCCGTCCTCACTGC	0.527																																																	0			11											51.0	53.0	53.0					11																	89028403		2201	4299	6500	88668051	SO:0001583	missense	7299			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1459G>T	11.37:g.89028403G>T	ENSP00000263321:p.Val487Phe		88668051	Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	9.339	1.062450	0.19987	.	.	ENSG00000077498	ENST00000263321	D	0.99226	-5.59	5.02	4.1	0.47936	.	0.622492	0.16746	N	0.201244	D	0.96315	0.8798	L	0.28344	0.845	0.09310	N	1	P	0.48764	0.915	B	0.37601	0.254	D	0.92603	0.6093	9	.	.	.	.	8.4361	0.32789	0.0851:0.1555:0.7594:0.0	.	487	P14679	TYRO_HUMAN	F	487	ENSP00000263321:V487F	.	V	+	1	0	TYR	88668051	0.003000	0.15002	0.033000	0.17914	0.034000	0.12701	0.787000	0.26858	1.230000	0.43646	0.455000	0.32223	GTC		0.527	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372	
PDGFD	80310	hgsc.bcm.edu	37	11	103866948	103866948	+	Missense_Mutation	SNP	T	T	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr11:103866948T>G	ENST00000393158.2	-	3	534	c.355A>C	c.(355-357)Ata>Cta	p.I119L	PDGFD_ENST00000302251.5_Missense_Mutation_p.I113L			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	119	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GTTTCGGATATATCTTCAACT	0.323																																																	0			11											117.0	107.0	110.0					11																	103866948		2202	4299	6501	103372158	SO:0001583	missense	80310			AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.355A>C	11.37:g.103866948T>G	ENSP00000376865:p.Ile119Leu		103372158	A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	T	2.141	-0.396806	0.04899	.	.	ENSG00000170962	ENST00000393158;ENST00000302251;ENST00000529268	T;T;T	0.17370	2.28;2.28;2.28	5.67	-5.23	0.02798	CUB (5);	0.665176	0.15761	N	0.245905	T	0.05456	0.0144	N	0.02286	-0.61	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.37267	-0.9713	10	0.15952	T	0.53	-4.8026	14.1461	0.65351	0.0953:0.6161:0.0:0.2886	.	119;113	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	L	119;113;142	ENSP00000376865:I119L;ENSP00000302193:I113L;ENSP00000432909:I142L	ENSP00000302193:I113L	I	-	1	0	PDGFD	103372158	0.000000	0.05858	0.014000	0.15608	0.331000	0.28603	-0.781000	0.04648	-0.935000	0.03728	-0.263000	0.10527	ATA		0.323	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208	
CHEK1	1111	hgsc.bcm.edu	37	11	125514021	125514021	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr11:125514021A>G	ENST00000534070.1	+	10	1214	c.959A>G	c.(958-960)gAa>gGa	p.E320G	CHEK1_ENST00000438015.1_Missense_Mutation_p.E320G|CHEK1_ENST00000427383.2_Missense_Mutation_p.E336G|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000428830.2_Missense_Mutation_p.E320G|CHEK1_ENST00000524737.1_Missense_Mutation_p.E320G|CHEK1_ENST00000544373.1_Missense_Mutation_p.E320G|CHEK1_ENST00000278916.3_Missense_Mutation_p.E320G	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	320					cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TCTCAGCCAGAACCCCGCACA	0.403								Other conserved DNA damage response genes																																									0			11											107.0	105.0	106.0					11																	125514021		2201	4299	6500	125019231	SO:0001583	missense	1111			AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.959A>G	11.37:g.125514021A>G	ENSP00000435371:p.Glu320Gly		125019231	A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149788	0.57151	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000534070;ENST00000524737;ENST00000278916	T;T;T;T;T;T;T	0.74106	-0.81;-0.52;-0.81;-0.77;-0.81;-0.81;-0.75	5.58	5.58	0.84498	Protein kinase-like domain (1);	0.053038	0.64402	D	0.000001	T	0.70842	0.3270	L	0.60455	1.87	0.80722	D	1	B;B;B;B	0.21147	0.02;0.052;0.014;0.014	B;B;B;B	0.23419	0.025;0.046;0.015;0.015	T	0.66035	-0.6023	10	0.23302	T	0.38	-23.2131	14.7386	0.69437	1.0:0.0:0.0:0.0	.	320;336;320;320	F5H7S4;E7EPP6;B5BTY6;O14757	.;.;.;CHK1_HUMAN	G	320;336;320;320;320;320;320	ENSP00000388648:E320G;ENSP00000391090:E336G;ENSP00000412504:E320G;ENSP00000442317:E320G;ENSP00000435371:E320G;ENSP00000432890:E320G;ENSP00000278916:E320G	ENSP00000278916:E320G	E	+	2	0	CHEK1	125019231	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.328000	0.90014	2.131000	0.65755	0.533000	0.62120	GAA		0.403	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274	
FLI1	2313	hgsc.bcm.edu	37	11	128680652	128680652	+	Silent	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr11:128680652G>A	ENST00000527786.2	+	9	1617	c.1128G>A	c.(1126-1128)tcG>tcA	p.S376S	FLI1_ENST00000344954.6_Silent_p.S343S|FLI1_ENST00000534087.2_Silent_p.S343S|FLI1_ENST00000525560.1_Silent_p.S183S|FLI1_ENST00000281428.8_Silent_p.S310S	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	376					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CGACCGAGTCGTCCATGTACA	0.498			T	EWSR1	Ewing sarcoma																																			Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	0			11											94.0	97.0	96.0					11																	128680652		2138	4255	6393	128185862	SO:0001819	synonymous_variant	2313			M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.1128G>A	11.37:g.128680652G>A			128185862	B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	CCDS44768.1																																																																																				0.498	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017	
SOX4	6659	hgsc.bcm.edu	37	6	21595968	21595968	+	Silent	SNP	C	C	T	rs145209759	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr6:21595968C>T	ENST00000244745.1	+	1	1997	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	SOX4_ENST00000543472.1_Silent_p.F401F	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	401					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.F401L(1)		kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			ACGACGAGTTCGAAGACGACC	0.657																																																	1	Substitution - Missense(1)	lung(1)	6											24.0	20.0	21.0					6																	21595968		2202	4297	6499	21703947	SO:0001819	synonymous_variant	6659			AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"""SRY (sex determining region Y)-boxes"""	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.1203C>T	6.37:g.21595968C>T			21703947		Silent	SNP	ENST00000244745.1	37	CCDS4547.1																																																																																				0.657	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107	
GPLD1	2822	hgsc.bcm.edu	37	6	24454269	24454269	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr6:24454269C>T	ENST00000230036.1	-	14	1419	c.1309G>A	c.(1309-1311)Gcc>Acc	p.A437T		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	437					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						ATCCTGTGGGCCTCCTTGTCC	0.562																																																	0			6											108.0	99.0	102.0					6																	24454269		2203	4300	6503	24562248	SO:0001583	missense	2822			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1309G>A	6.37:g.24454269C>T	ENSP00000230036:p.Ala437Thr		24562248	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474024	0.63737	.	.	ENSG00000112293	ENST00000230036	T	0.71934	-0.61	5.44	4.55	0.56014	.	0.075012	0.56097	D	0.000037	T	0.77432	0.4129	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79512	-0.1773	10	0.49607	T	0.09	-19.5248	14.6277	0.68635	0.147:0.853:0.0:0.0	.	437	P80108	PHLD_HUMAN	T	437	ENSP00000230036:A437T	ENSP00000230036:A437T	A	-	1	0	GPLD1	24562248	1.000000	0.71417	0.995000	0.50966	0.446000	0.32137	3.241000	0.51376	1.371000	0.46172	0.655000	0.94253	GCC		0.562	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503	
ZKSCAN3	80317	hgsc.bcm.edu	37	6	28333754	28333754	+	Nonsense_Mutation	SNP	C	C	T	rs149951499		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr6:28333754C>T	ENST00000377255.3	+	7	1606	c.1309C>T	c.(1309-1311)Cga>Tga	p.R437*	ZKSCAN3_ENST00000341464.5_Nonsense_Mutation_p.R289*|ZKSCAN3_ENST00000252211.2_Nonsense_Mutation_p.R437*	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	437				R -> D (in Ref. 6; AAB16813). {ECO:0000305}.	autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AGCCTTTAGGCGAAGTTCACA	0.507													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20755	0.0		0.0	False		,,,				2504	0.0																0			6						C	stop/ARG,stop/ARG,stop/ARG	1,4405		0,1,2202	75.0	76.0	76.0		1309,865,1309	3.1	1.0	6	dbSNP_134	76	0,8600		0,0,4300	yes	stop-gained,stop-gained,stop-gained	ZKSCAN3	NM_001242894.1,NM_001242895.1,NM_024493.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	437/539,289/391,437/539	28333754	1,13005	2203	4300	6503	28441733	SO:0001587	stop_gained	80317			U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.1309C>T	6.37:g.28333754C>T	ENSP00000366465:p.Arg437*		28441733	B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Nonsense_Mutation	SNP	ENST00000377255.3	37	CCDS4650.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	.	35	5.538910	0.96474	2.27E-4	0.0	ENSG00000189298	ENST00000252211;ENST00000341464;ENST00000377255	.	.	.	3.97	3.1	0.35709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9458	0.29985	0.0:0.7978:0.0:0.2022	.	.	.	.	X	437;289;437	.	ENSP00000252211:R437X	R	+	1	2	ZKSCAN3	28441733	0.000000	0.05858	0.999000	0.59377	0.984000	0.73092	-0.076000	0.11412	0.883000	0.36040	0.655000	0.94253	CGA		0.507	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493	
GABBR1	2550	hgsc.bcm.edu	37	6	29589553	29589553	+	Silent	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr6:29589553A>G	ENST00000377034.4	-	10	1442	c.1107T>C	c.(1105-1107)acT>acC	p.T369T	GABBR1_ENST00000377016.4_Silent_p.T307T|GABBR1_ENST00000355973.3_Silent_p.T252T|GABBR1_ENST00000377012.4_Silent_p.T252T|GABBR1_ENST00000376977.3_Silent_p.T369T	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	369					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.T369T(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TCCGGGCTTCAGTCTCATAGA	0.547																																																	1	Substitution - coding silent(1)	ovary(1)	6											62.0	66.0	65.0					6																	29589553		2203	4300	6503	29697532	SO:0001819	synonymous_variant	10537			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1107T>C	6.37:g.29589553A>G			29697532	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	CCDS4663.1																																																																																				0.547	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3		
STK38	11329	hgsc.bcm.edu	37	6	36466221	36466221	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr6:36466221T>A	ENST00000229812.7	-	11	1280	c.995A>T	c.(994-996)aAg>aTg	p.K332M		NM_007271.2	NP_009202.1			serine/threonine kinase 38									p.K332T(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATCACCTTCTTATATGTCTC	0.418																																					Colon(180;997 3561 16158)												1	Substitution - Missense(1)	ovary(1)	6											104.0	105.0	104.0					6																	36466221		2203	4300	6503	36574199	SO:0001583	missense	11329				CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.995A>T	6.37:g.36466221T>A	ENSP00000229812:p.Lys332Met		36574199		Missense_Mutation	SNP	ENST00000229812.7	37	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.070721	0.76301	.	.	ENSG00000112079	ENST00000229812	T	0.46063	0.88	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.042888	0.85682	D	0.000000	T	0.42877	0.1222	L	0.41632	1.29	0.53005	D	0.99996	D	0.58970	0.984	P	0.57548	0.823	T	0.44467	-0.9326	10	0.87932	D	0	.	16.3469	0.83138	0.0:0.0:0.0:1.0	.	332	Q15208	STK38_HUMAN	M	332	ENSP00000229812:K332M	ENSP00000229812:K332M	K	-	2	0	STK38	36574199	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.663000	0.68038	2.263000	0.75096	0.528000	0.53228	AAG		0.418	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271	
DNAH8	1769	hgsc.bcm.edu	37	6	38702322	38702322	+	Missense_Mutation	SNP	C	C	T	rs370991185		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr6:38702322C>T	ENST00000359357.3	+	3	286	c.32C>T	c.(31-33)cCg>cTg	p.P11L	DNAH8_ENST00000449981.2_Missense_Mutation_p.P228L|DNAH8_ENST00000441566.1_Missense_Mutation_p.P11L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	11					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AATGCAGCCCCGGATAAACTA	0.353																																																	0			6						C	LEU/PRO	0,4406		0,0,2203	145.0	153.0	150.0		683	5.0	0.9	6		150	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH8	NM_001206927.1	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	228/4708	38702322	1,13005	2203	4300	6503	38810300	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.32C>T	6.37:g.38702322C>T	ENSP00000352312:p.Pro11Leu		38810300	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	C	12.56	1.973461	0.34848	0.0	1.16E-4	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.24350	1.89;1.89;1.86	5.86	5.0	0.66597	.	0.065949	0.64402	D	0.000007	T	0.12008	0.0292	L	0.39898	1.24	0.53005	D	0.999962	B	0.12630	0.006	B	0.10450	0.005	T	0.03335	-1.1047	10	0.56958	D	0.05	.	13.501	0.61454	0.0:0.9277:0.0:0.0723	.	11	Q96JB1	DYH8_HUMAN	L	216;216;11;11	ENSP00000333363:P216L;ENSP00000352312:P11L;ENSP00000402294:P11L	ENSP00000333363:P216L	P	+	2	0	DNAH8	38810300	0.456000	0.25744	0.885000	0.34714	0.594000	0.36715	3.984000	0.56923	1.488000	0.48433	0.585000	0.79938	CCG		0.353	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
PRPH2	5961	hgsc.bcm.edu	37	6	42689612	42689612	+	Missense_Mutation	SNP	T	T	C	rs61755786		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr6:42689612T>C	ENST00000230381.5	-	1	700	c.461A>G	c.(460-462)aAg>aGg	p.K154R		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	154					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GTCGATGGTCTTCTTCATGAA	0.542																																																	0			6											119.0	105.0	110.0					6																	42689612		2203	4300	6503	42797590	SO:0001583	missense	5961				CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.461A>G	6.37:g.42689612T>C	ENSP00000230381:p.Lys154Arg		42797590	Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	T	8.112	0.779109	0.16120	.	.	ENSG00000112619	ENST00000230381	T	0.78816	-1.21	5.78	5.78	0.91487	Tetraspanin, EC2 domain (1);	0.042558	0.85682	D	0.000000	T	0.41166	0.1147	N	0.04686	-0.185	0.43874	D	0.996483	B	0.02656	0.0	B	0.11329	0.006	T	0.47195	-0.9136	10	0.09084	T	0.74	.	16.3979	0.83621	0.0:0.0:0.0:1.0	.	154	P23942	PRPH2_HUMAN	R	154	ENSP00000230381:K154R	ENSP00000230381:K154R	K	-	2	0	PRPH2	42797590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.331000	0.52075	2.333000	0.79357	0.533000	0.62120	AAG		0.542	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322	
GPR116	221395	hgsc.bcm.edu	37	6	46832857	46832857	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr6:46832857C>A	ENST00000283296.7	-	14	2200	c.1912G>T	c.(1912-1914)Gtt>Ttt	p.V638F	GPR116_ENST00000545669.1_Missense_Mutation_p.V67F|GPR116_ENST00000265417.7_Missense_Mutation_p.V638F|GPR116_ENST00000456426.2_Missense_Mutation_p.V496F|GPR116_ENST00000362015.4_Missense_Mutation_p.V638F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	638					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CACACATCAACAGTTTTTGAA	0.358																																					NSCLC(59;410 1274 8751 36715 50546)												0			6											214.0	187.0	196.0					6																	46832857		2203	4300	6503	46940816	SO:0001583	missense	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1912G>T	6.37:g.46832857C>A	ENSP00000283296:p.Val638Phe		46940816	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	2.135	-0.398189	0.04865	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417;ENST00000545669	T;T;T;T;T	0.27256	1.71;2.08;1.72;1.71;1.68	5.91	-2.83	0.05769	.	1.301620	0.05099	N	0.486766	T	0.08358	0.0208	L	0.50333	1.59	0.09310	N	1	B;B;B;B;B	0.26081	0.113;0.009;0.009;0.141;0.009	B;B;B;B;B	0.23716	0.027;0.005;0.004;0.048;0.004	T	0.38478	-0.9659	10	0.40728	T	0.16	-0.9488	6.9102	0.24331	0.0:0.1862:0.3592:0.4546	.	67;193;638;496;638	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	F	638;638;638;496;638;67	ENSP00000283296:V638F;ENSP00000354563:V638F;ENSP00000412866:V496F;ENSP00000265417:V638F;ENSP00000441581:V67F	ENSP00000265417:V638F	V	-	1	0	GPR116	46940816	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.902000	0.04088	-0.629000	0.05575	-0.163000	0.13421	GTT		0.358	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	
EYS	346007	hgsc.bcm.edu	37	6	65612337	65612337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr6:65612337G>A	ENST00000370621.3	-	17	3224	c.2698C>T	c.(2698-2700)Cag>Tag	p.Q900*	EYS_ENST00000503581.1_Nonsense_Mutation_p.Q900*|EYS_ENST00000370616.2_Nonsense_Mutation_p.Q900*			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	900	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CCATAATCCTGGCAGGAAAGG	0.353																																																	0			6											157.0	129.0	138.0					6																	65612337		692	1590	2282	65669058	SO:0001587	stop_gained	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.2698C>T	6.37:g.65612337G>A	ENSP00000359655:p.Gln900*		65669058	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Nonsense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	G	38	6.731848	0.97796	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	.	.	.	4.36	3.47	0.39725	.	0.931884	0.08711	N	0.904966	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	10.739	0.46141	0.0:0.0:0.6562:0.3438	.	.	.	.	X	900	.	ENSP00000359650:Q900X	Q	-	1	0	EYS	65669058	1.000000	0.71417	0.754000	0.31244	0.467000	0.32768	2.087000	0.41653	0.924000	0.37069	0.591000	0.81541	CAG		0.353	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
GRIK2	2898	hgsc.bcm.edu	37	6	102124516	102124516	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr6:102124516A>G	ENST00000421544.1	+	4	1050	c.560A>G	c.(559-561)gAg>gGg	p.E187G	GRIK2_ENST00000413795.1_Missense_Mutation_p.E187G|GRIK2_ENST00000369138.1_Missense_Mutation_p.E187G|GRIK2_ENST00000358361.3_Missense_Mutation_p.E187G|GRIK2_ENST00000369137.3_Missense_Mutation_p.E187G|GRIK2_ENST00000369134.4_Missense_Mutation_p.E138G|GRIK2_ENST00000318991.6_Missense_Mutation_p.E187G	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	187			E -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CGTTTGCAAGAGCTCATCAAA	0.318																																																	0			6											50.0	49.0	49.0					6																	102124516		2203	4299	6502	102231209	SO:0001583	missense	2901				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.560A>G	6.37:g.102124516A>G	ENSP00000397026:p.Glu187Gly		102231209	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.820196	0.71028	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.64	5.64	0.86602	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.86623	0.5977	M	0.72894	2.215	0.58432	D	0.999992	B;B;B	0.25272	0.1;0.122;0.1	B;B;B	0.43916	0.309;0.436;0.309	D	0.86517	0.1813	10	0.59425	D	0.04	.	15.9105	0.79470	1.0:0.0:0.0:0.0	.	187;187;187	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	G	187;187;187;187;187;187;187;138;149	ENSP00000397026:E187G;ENSP00000405596:E187G;ENSP00000358134:E187G;ENSP00000351128:E187G;ENSP00000358133:E187G;ENSP00000313276:E187G;ENSP00000358130:E138G	ENSP00000313276:E187G	E	+	2	0	GRIK2	102231209	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.334000	0.96470	2.175000	0.68902	0.473000	0.43528	GAG		0.318	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		
LAMA4	3910	hgsc.bcm.edu	37	6	112443320	112443320	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr6:112443320G>A	ENST00000230538.7	-	32	4769	c.4372C>T	c.(4372-4374)Cac>Tac	p.H1458Y	LAMA4_ENST00000424408.2_Missense_Mutation_p.H1451Y|LAMA4_ENST00000522006.1_Missense_Mutation_p.H1451Y|LAMA4_ENST00000389463.4_Missense_Mutation_p.H1451Y	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1458					blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTGGAAAGGTGGCAATGAGAG	0.458																																																	0			6											163.0	153.0	156.0					6																	112443320		2203	4300	6503	112550013	SO:0001583	missense	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4372C>T	6.37:g.112443320G>A	ENSP00000230538:p.His1458Tyr		112550013	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	8.278	0.815002	0.16607	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.62	5.62	0.85841	.	0.482261	0.25388	N	0.031038	T	0.03136	0.0092	N	0.12182	0.205	0.80722	D	1	B;B	0.29766	0.167;0.256	B;B	0.30855	0.057;0.121	T	0.12889	-1.0530	10	0.02654	T	1	.	12.6205	0.56600	0.0762:0.0:0.9238:0.0	.	1458;1451	Q16363;Q16363-2	LAMA4_HUMAN;.	Y	1458;1451;1451;1451	ENSP00000230538:H1458Y;ENSP00000429488:H1451Y;ENSP00000374114:H1451Y;ENSP00000416470:H1451Y	ENSP00000230538:H1458Y	H	-	1	0	LAMA4	112550013	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.737000	0.55060	2.644000	0.89710	0.561000	0.74099	CAC		0.458	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
LAMA2	3908	hgsc.bcm.edu	37	6	129802422	129802422	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr6:129802422T>C	ENST00000421865.2	+	55	7636	c.7587T>C	c.(7585-7587)gtT>gtC	p.V2529V	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2529	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTTACACAGTTAGCTTTCCTA	0.413																																																	0			6											129.0	121.0	124.0					6																	129802422		2203	4300	6503	129844115	SO:0001819	synonymous_variant	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7587T>C	6.37:g.129802422T>C			129844115	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	CCDS5138.1																																																																																				0.413	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
SYNE1	23345	hgsc.bcm.edu	37	6	152708320	152708320	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr6:152708320G>A	ENST00000367255.5	-	54	8975	c.8374C>T	c.(8374-8376)Cgt>Tgt	p.R2792C	SYNE1_ENST00000423061.1_Missense_Mutation_p.R2799C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R2799C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R2831C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R2792C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2792					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R2792S(2)|p.R2799S(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCAATTAGACGGTGAAGGGCT	0.483										HNSCC(10;0.0054)																																							3	Substitution - Missense(3)	lung(3)	6											208.0	183.0	191.0					6																	152708320		2203	4300	6503	152750013	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8374C>T	6.37:g.152708320G>A	ENSP00000356224:p.Arg2792Cys		152750013	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	2.642	-0.283986	0.05642	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.58	1.23	0.21249	.	0.979395	0.08364	N	0.957153	T	0.11836	0.0288	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.14805	0.004;0.004;0.004;0.011	B;B;B;B	0.09377	0.002;0.001;0.001;0.004	T	0.35025	-0.9805	10	0.40728	T	0.16	.	7.5023	0.27524	0.0641:0.1014:0.6079:0.2265	.	2775;2792;2792;2799	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	C	2792;2799;2792;2799;2831	ENSP00000356224:R2792C;ENSP00000396024:R2799C;ENSP00000265368:R2792C;ENSP00000390975:R2799C;ENSP00000341887:R2831C	ENSP00000265368:R2792C	R	-	1	0	SYNE1	152750013	0.019000	0.18553	0.001000	0.08648	0.016000	0.09150	1.681000	0.37618	0.292000	0.22492	-0.140000	0.14226	CGT		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
NXN	64359	hgsc.bcm.edu	37	17	722689	722689	+	Silent	SNP	G	G	A	rs72810286	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr17:722689G>A	ENST00000336868.3	-	5	901	c.810C>T	c.(808-810)taC>taT	p.Y270Y	NXN_ENST00000537628.2_Silent_p.Y21Y|NXN_ENST00000575801.1_Silent_p.Y162Y|NXN_ENST00000538650.1_Silent_p.Y21Y	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	270	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CTTGGATTCCGTACAGCCGGT	0.607													G|||	2	0.000399361	0.0	0.0	5008	,	,		14647	0.0		0.002	False		,,,				2504	0.0																0			17						G	,	2,4404	4.2+/-10.8	0,2,2201	45.0	48.0	47.0		486,810	-1.5	1.0	17	dbSNP_130	47	17,8583	12.6+/-44.7	0,17,4283	no	coding-synonymous,coding-synonymous	NXN	NM_001205319.1,NM_022463.4	,	0,19,6484	AA,AG,GG		0.1977,0.0454,0.1461	,	162/328,270/436	722689	19,12987	2203	4300	6503	669439	SO:0001819	synonymous_variant	64359				CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.810C>T	17.37:g.722689G>A			669439	B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Silent	SNP	ENST00000336868.3	37	CCDS10998.1																																																																																				0.607	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1		
TP53	7157	hgsc.bcm.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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"""	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	17	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151.0	112.0	125.0					17																	7577539		2203	4300	6503	7518264	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		7518264	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	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
NEK8	284086	hgsc.bcm.edu	37	17	27064865	27064865	+	Silent	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr17:27064865C>T	ENST00000268766.6	+	7	952	c.918C>T	c.(916-918)gcC>gcT	p.A306A	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	306					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGAGGCCAGCCATCCCACCAC	0.627																																					NSCLC(6;19 293 14866 25253 49845)												0			17											67.0	76.0	73.0					17																	27064865		2203	4300	6503	24088992	SO:0001819	synonymous_variant	284086			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.918C>T	17.37:g.27064865C>T			24088992	A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Silent	SNP	ENST00000268766.6	37	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	C	2.469	-0.322260	0.05350	.	.	ENSG00000160602	ENST00000543014	T	0.71461	-0.57	5.54	1.18	0.20946	.	.	.	.	.	T	0.69860	0.3158	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65030	-0.6267	6	0.59425	D	0.04	.	4.3785	0.11283	0.2434:0.483:0.0:0.2736	.	.	.	.	Y	360	ENSP00000465859:H360Y	ENSP00000446066:H360Y	H	+	1	0	NEK8	24088992	0.981000	0.34729	0.861000	0.33841	0.069000	0.16628	0.449000	0.21744	0.022000	0.15160	0.591000	0.81541	CAT		0.627	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2		
NF1	4763	hgsc.bcm.edu	37	17	29562692	29562692	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr17:29562692T>C	ENST00000358273.4	+	28	4155	c.3772T>C	c.(3772-3774)Tgg>Cgg	p.W1258R	NF1_ENST00000356175.3_Missense_Mutation_p.W1258R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1258	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				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.?(4)	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)		CCAACTGCTCTGGAACATGTT	0.413			"""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(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17											210.0	207.0	208.0					17																	29562692		2203	4300	6503	26586818	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.3772T>C	17.37:g.29562692T>C	ENSP00000351015:p.Trp1258Arg		26586818	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.058368	0.55325	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.78246	-1.16;-1.16;-1.16	5.92	5.92	0.95590	Rho GTPase activation protein (1);Armadillo-type fold (1);Ras GTPase-activating protein (3);	0.059684	0.64402	D	0.000001	D	0.86239	0.5885	M	0.67397	2.05	0.80722	D	1	D;B;D;B	0.64830	0.965;0.002;0.994;0.216	P;B;D;B	0.78314	0.863;0.004;0.991;0.151	D	0.83900	0.0289	10	0.25751	T	0.34	.	16.3782	0.83418	0.0:0.0:0.0:1.0	.	1258;308;1258;1258	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	R	1258;1258;924	ENSP00000351015:W1258R;ENSP00000348498:W1258R;ENSP00000389907:W924R	ENSP00000348498:W1258R	W	+	1	0	NF1	26586818	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.542000	0.82095	2.277000	0.76020	0.528000	0.53228	TGG		0.413	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
GPR179	440435	hgsc.bcm.edu	37	17	36495367	36495367	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr17:36495367A>G	ENST00000342292.4	-	2	856	c.836T>C	c.(835-837)aTc>aCc	p.I279T		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	279					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACACTGATTGATGTCCACACT	0.542																																																	0			17											126.0	127.0	126.0					17																	36495367		2133	4229	6362	33748893	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.836T>C	17.37:g.36495367A>G	ENSP00000345060:p.Ile279Thr		33748893		Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981804	0.74474	.	.	ENSG00000188888	ENST00000342292	T	0.68479	-0.33	4.32	4.32	0.51571	.	0.239629	0.30920	N	0.008615	T	0.82190	0.4983	M	0.87269	2.87	0.43021	D	0.994574	D	0.89917	1.0	D	0.69307	0.963	D	0.85938	0.1456	10	0.87932	D	0	-17.1579	12.899	0.58115	1.0:0.0:0.0:0.0	.	279	Q6PRD1	GP179_HUMAN	T	279	ENSP00000345060:I279T	ENSP00000345060:I279T	I	-	2	0	GPR179	33748893	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.271000	0.89883	1.942000	0.56320	0.379000	0.24179	ATC		0.542	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
PLCD3	113026	hgsc.bcm.edu	37	17	43195850	43195850	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr17:43195850T>A	ENST00000322765.5	-	6	1036	c.923A>T	c.(922-924)cAt>cTt	p.H308L	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	308					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						CATCAGCTCATGCTGCTTGGC	0.582																																																	0			17											81.0	86.0	84.0					17																	43195850		2126	4256	6382	40551376	SO:0001583	missense	113026			AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.923A>T	17.37:g.43195850T>A	ENSP00000313731:p.His308Leu		40551376	Q8TEC1|Q8TF37|Q96FL6	Missense_Mutation	SNP	ENST00000322765.5	37		.	.	.	.	.	.	.	.	.	.	T	13.35	2.211717	0.39102	.	.	ENSG00000161714	ENST00000322765	T	0.41065	1.01	4.26	4.26	0.50523	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.053678	0.64402	D	0.000001	T	0.56485	0.1988	.	.	.	0.43988	D	0.996682	D	0.57257	0.979	P	0.60236	0.871	T	0.57154	-0.7860	9	0.40728	T	0.16	.	12.7687	0.57408	0.0:0.0:0.0:1.0	.	308	Q8N3E9	PLCD3_HUMAN	L	308	ENSP00000313731:H308L	ENSP00000313731:H308L	H	-	2	0	PLCD3	40551376	0.986000	0.35501	0.954000	0.39281	0.862000	0.49288	2.038000	0.41184	1.905000	0.55150	0.374000	0.22700	CAT		0.582	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373	
EPN3	55040	hgsc.bcm.edu	37	17	48614238	48614238	+	Silent	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr17:48614238G>A	ENST00000268933.3	+	2	900	c.321G>A	c.(319-321)aaG>aaA	p.K107K	EPN3_ENST00000537145.1_Silent_p.K162K|RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000541226.1_Silent_p.K51K	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	107	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.					clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			AGACACTCAAGGACTTCCAGT	0.607																																																	0			17											116.0	100.0	106.0					17																	48614238		2203	4300	6503	45969237	SO:0001819	synonymous_variant	55040			AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.321G>A	17.37:g.48614238G>A			45969237	A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	ENST00000268933.3	37	CCDS11570.1																																																																																				0.607	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957	
ABCA10	10349	hgsc.bcm.edu	37	17	67149484	67149484	+	Silent	SNP	C	C	T	rs78875590	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr17:67149484C>T	ENST00000269081.4	-	35	5007	c.4098G>A	c.(4096-4098)ccG>ccA	p.P1366P	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1366	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TCCCGGTGAACGGCTCATCTA	0.522													c|||	80	0.0159744	0.0582	0.0014	5008	,	,		17314	0.001		0.001	False		,,,				2504	0.0																0			17						T		275,4131	154.0+/-187.5	10,255,1938	98.0	100.0	99.0		4098	-6.7	0.0	17	dbSNP_132	99	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	ABCA10	NM_080282.3		10,260,6233	TT,TC,CC		0.0581,6.2415,2.1529		1366/1544	67149484	280,12726	2203	4300	6503	64661079	SO:0001819	synonymous_variant	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4098G>A	17.37:g.67149484C>T			64661079	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	CCDS11684.1																																																																																				0.522	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
KRTAP20-1	337975	hgsc.bcm.edu	37	21	31988928	31988928	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr21:31988928C>T	ENST00000334664.2	+	1	179	c.155C>T	c.(154-156)tCa>tTa	p.S52L	KRTAP6-1_ENST00000329122.2_5'Flank	NM_181615.1	NP_853646.1	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	52			S -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			intermediate filament (GO:0005882)		p.S52L(1)		breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1)	7						AGATATTGGTCATATGGTTTC	0.448																																																	1	Substitution - Missense(1)	breast(1)	21											239.0	213.0	221.0					21																	31988928		2203	4300	6503	30910799	SO:0001583	missense	337975			AP001708	CCDS13603.1	21q22.1	2011-02-10			ENSG00000244624	ENSG00000244624		"""Keratin associated proteins"""	18943	protein-coding gene	gene with protein product						12359730	Standard	NM_181615		Approved	KAP20.1	uc011ade.2	Q3LI63	OTTHUMG00000057801	ENST00000334664.2:c.155C>T	21.37:g.31988928C>T	ENSP00000335503:p.Ser52Leu		30910799		Missense_Mutation	SNP	ENST00000334664.2	37	CCDS13603.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533663	0.27387	.	.	ENSG00000244624	ENST00000334664	T	0.30981	1.51	4.1	3.21	0.36854	.	0.655352	0.11666	U	0.541317	T	0.22166	0.0534	.	.	.	0.09310	N	1	B	0.30179	0.271	B	0.25405	0.06	T	0.17745	-1.0359	9	0.87932	D	0	.	7.582	0.27970	0.0:0.8864:0.0:0.1136	.	52	Q3LI63	KR201_HUMAN	L	52	ENSP00000335503:S52L	ENSP00000335503:S52L	S	+	2	0	KRTAP20-1	30910799	0.003000	0.15002	0.034000	0.17996	0.416000	0.31233	0.554000	0.23407	1.301000	0.44836	0.643000	0.83706	TCA		0.448	KRTAP20-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128253.3		
PAXBP1	94104	hgsc.bcm.edu	37	21	34117133	34117133	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr21:34117133T>C	ENST00000331923.4	-	13	2349	c.2160A>G	c.(2158-2160)tcA>tcG	p.S720S	PAXBP1-AS1_ENST00000440052.1_RNA|PAXBP1_ENST00000290178.4_Silent_p.S720S	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	720					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CATTCACTACTGAAGGATATC	0.318																																																	0			21											110.0	122.0	118.0					21																	34117133		2203	4296	6499	33039004	SO:0001819	synonymous_variant	0			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2160A>G	21.37:g.34117133T>C			33039004	D3DSE7|Q96DU8|Q9NYQ0	Silent	SNP	ENST00000331923.4	37	CCDS13619.1																																																																																				0.318	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329	
SOX8	30812	hgsc.bcm.edu	37	16	1033737	1033737	+	Silent	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr16:1033737C>T	ENST00000293894.3	+	2	547	c.432C>T	c.(430-432)agC>agT	p.S144S	RP11-161M6.2_ENST00000565467.1_lincRNA	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	144					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GCTTGCTGAGCGAGAGCGAGA	0.677																																																	0			16											39.0	35.0	36.0					16																	1033737		2198	4299	6497	973738	SO:0001819	synonymous_variant	30812			AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.432C>T	16.37:g.1033737C>T			973738	Q9NZW2	Silent	SNP	ENST00000293894.3	37	CCDS10428.1																																																																																				0.677	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1		
CREBBP	1387	hgsc.bcm.edu	37	16	3790511	3790511	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr16:3790511C>A	ENST00000262367.5	-	24	4831	c.4022G>T	c.(4021-4023)cGa>cTa	p.R1341L	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1303L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1341	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R1341Q(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTTGTTCACTCGGTCTTCCAA	0.567			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	16											70.0	73.0	72.0					16																	3790511		2197	4300	6497	3730512	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4022G>T	16.37:g.3790511C>A	ENSP00000262367:p.Arg1341Leu		3730512	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	24.6	4.544403	0.86022	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.87179	-2.22;-2.14	5.05	5.05	0.67936	.	0.094335	0.44483	D	0.000453	D	0.92557	0.7636	M	0.90650	3.135	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.50659	0.647;0.647	D	0.94255	0.7497	10	0.87932	D	0	-10.5698	18.784	0.91946	0.0:1.0:0.0:0.0	.	1371;1341	Q4LE28;Q92793	.;CBP_HUMAN	L	1341;1371;1303	ENSP00000262367:R1341L;ENSP00000371502:R1303L	ENSP00000262367:R1341L	R	-	2	0	CREBBP	3730512	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.713000	0.84693	2.503000	0.84419	0.555000	0.69702	CGA		0.567	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
CREBBP	1387	hgsc.bcm.edu	37	16	3817735	3817735	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr16:3817735T>C	ENST00000262367.5	-	16	4045	c.3236A>G	c.(3235-3237)cAg>cGg	p.Q1079R	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q1041R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1079					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTTGCGCGGCTGCGAAGGAGA	0.418			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0			16											185.0	170.0	175.0					16																	3817735		2197	4300	6497	3757736	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3236A>G	16.37:g.3817735T>C	ENSP00000262367:p.Gln1079Arg		3757736	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375527	0.24857	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	T;T	0.16597	2.33;2.33	5.61	5.61	0.85477	Bromodomain (1);	0.000000	0.64402	D	0.000001	T	0.37404	0.1002	M	0.62723	1.935	0.80722	D	1	D;D	0.54601	0.967;0.967	D;D	0.65140	0.932;0.932	T	0.02774	-1.1112	10	0.31617	T	0.26	-12.9594	16.1054	0.81216	0.0:0.0:0.0:1.0	.	1109;1079	Q4LE28;Q92793	.;CBP_HUMAN	R	1079;1109;1041	ENSP00000262367:Q1079R;ENSP00000371502:Q1041R	ENSP00000262367:Q1079R	Q	-	2	0	CREBBP	3757736	1.000000	0.71417	0.997000	0.53966	0.031000	0.12232	7.158000	0.77470	2.266000	0.75297	0.533000	0.62120	CAG		0.418	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
ATF7IP2	80063	hgsc.bcm.edu	37	16	10524822	10524822	+	Silent	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr16:10524822G>A	ENST00000396560.2	+	3	572	c.345G>A	c.(343-345)tcG>tcA	p.S115S	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Silent_p.S115S|ATF7IP2_ENST00000324570.5_Silent_p.S115S|ATF7IP2_ENST00000356427.2_Silent_p.S115S	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	115					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						TTGTTTGTTCGTACCAAAAGC	0.363																																																	0			16											59.0	61.0	60.0					16																	10524822		2197	4300	6497	10432323	SO:0001819	synonymous_variant	80063			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.345G>A	16.37:g.10524822G>A			10432323	B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Silent	SNP	ENST00000396560.2	37	CCDS10540.1																																																																																				0.363	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997	
ERCC4	2072	hgsc.bcm.edu	37	16	14041760	14041760	+	Silent	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr16:14041760C>T	ENST00000311895.7	+	11	2316	c.2307C>T	c.(2305-2307)ctC>ctT	p.L769L		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	769	Nuclease.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CTTTCTCTCTCACTTCCCGAG	0.498			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	0			16											121.0	116.0	117.0					16																	14041760		2197	4300	6497	13949261	SO:0001819	synonymous_variant	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2307C>T	16.37:g.14041760C>T			13949261	A5PKV6|A8K111|O00140|Q8TD83	Silent	SNP	ENST00000311895.7	37	CCDS32390.1																																																																																				0.498	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236	
SLC5A2	6524	hgsc.bcm.edu	37	16	31499714	31499714	+	Silent	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr16:31499714G>A	ENST00000330498.3	+	9	1051	c.1032G>A	c.(1030-1032)gcG>gcA	p.A344A	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	344					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	ACGAGGTGGCGTGCGTGGTGC	0.672																																																	0			16											34.0	34.0	34.0					16																	31499714		2196	4299	6495	31407215	SO:0001819	synonymous_variant	6524				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1032G>A	16.37:g.31499714G>A			31407215	A2RRD2	Silent	SNP	ENST00000330498.3	37	CCDS10714.1																																																																																				0.672	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2		
CDH11	1009	hgsc.bcm.edu	37	16	65005939	65005939	+	Silent	SNP	T	T	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr16:65005939T>A	ENST00000268603.4	-	10	2034	c.1419A>T	c.(1417-1419)ccA>ccT	p.P473P	CDH11_ENST00000566827.1_Silent_p.P347P|CDH11_ENST00000394156.3_Silent_p.P473P	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	473	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TAATGGCCACTGGGACTTTGG	0.478			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	0			16											102.0	88.0	93.0					16																	65005939		2203	4300	6503	63563440	SO:0001819	synonymous_variant	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1419A>T	16.37:g.65005939T>A			63563440	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	CCDS10803.1																																																																																				0.478	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664	
HYDIN	54768	hgsc.bcm.edu	37	16	70937809	70937809	+	Splice_Site	SNP	T	T	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr16:70937809T>A	ENST00000393567.2	-	51	8825	c.8675A>T	c.(8674-8676)cAg>cTg	p.Q2892L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2892					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)				TGACCGTACCTGCTTCTCATT	0.453																																																	0			16											5.0	5.0	5.0					16																	70937809		1541	3854	5395	69495310	SO:0001630	splice_region_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.8676+1A>T	16.37:g.70937809T>A			69495310	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.586827	0.86851	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01043	5.41	4.73	4.73	0.59995	.	0.000000	0.31872	U	0.006930	T	0.03434	0.0099	M	0.76002	2.32	0.80722	D	1	P	0.52170	0.951	P	0.52454	0.699	T	0.61441	-0.7062	10	0.10636	T	0.68	.	14.0232	0.64571	0.0:0.0:0.0:1.0	.	2891	F8WD23	.	L	2892;2891	ENSP00000377197:Q2892L	ENSP00000313052:Q2891L	Q	-	2	0	HYDIN	69495310	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.548000	0.82154	1.970000	0.57323	0.491000	0.48974	CAG		0.453	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		Missense_Mutation
PLCG2	5336	hgsc.bcm.edu	37	16	81922794	81922794	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr16:81922794T>C	ENST00000359376.3	+	10	997	c.783T>C	c.(781-783)gaT>gaC	p.D261D		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	261					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGGCTCAGGATCTGAACAAAG	0.458																																																	0			16											150.0	138.0	142.0					16																	81922794		1976	4154	6130	80480295	SO:0001819	synonymous_variant	5336				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.783T>C	16.37:g.81922794T>C			80480295	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	CCDS42204.1																																																																																				0.458	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
JPH3	57338	hgsc.bcm.edu	37	16	87723385	87723385	+	Silent	SNP	C	C	T	rs539750381		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr16:87723385C>T	ENST00000284262.2	+	4	1661	c.1419C>T	c.(1417-1419)gaC>gaT	p.D473D	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	473					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGACCCCCGACGACAGCCCCC	0.721													C|||	1	0.000199681	0.0008	0.0	5008	,	,		10405	0.0		0.0	False		,,,				2504	0.0																0			16											25.0	22.0	23.0					16																	87723385		2183	4291	6474	86280886	SO:0001819	synonymous_variant	57338			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1419C>T	16.37:g.87723385C>T			86280886	D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	ENST00000284262.2	37	CCDS10962.1																																																																																				0.721	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2		
LAMA1	284217	hgsc.bcm.edu	37	18	7042167	7042167	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr18:7042167T>C	ENST00000389658.3	-	9	1331	c.1238A>G	c.(1237-1239)gAc>gGc	p.D413G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	413	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AGAATGGAGGTCATCCTTAAT	0.448																																																	0			18											75.0	61.0	65.0					18																	7042167		2203	4300	6503	7032167	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1238A>G	18.37:g.7042167T>C	ENSP00000374309:p.Asp413Gly		7032167		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.960946	0.74016	.	.	ENSG00000101680	ENST00000389658	T	0.20200	2.09	5.81	5.81	0.92471	EGF-like, laminin (3);	0.110185	0.64402	D	0.000019	T	0.44371	0.1290	M	0.76727	2.345	0.54753	D	0.999987	D	0.58970	0.984	P	0.62382	0.901	T	0.35549	-0.9784	10	0.49607	T	0.09	.	14.7212	0.69308	0.0:0.0:0.0:1.0	.	413	P25391	LAMA1_HUMAN	G	413	ENSP00000374309:D413G	ENSP00000374309:D413G	D	-	2	0	LAMA1	7032167	1.000000	0.71417	0.928000	0.36995	0.556000	0.35491	5.004000	0.63966	2.219000	0.72066	0.533000	0.62120	GAC		0.448	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
CDH2	1000	hgsc.bcm.edu	37	18	25565524	25565524	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr18:25565524A>G	ENST00000269141.3	-	12	2366	c.1943T>C	c.(1942-1944)aTt>aCt	p.I648T	CDH2_ENST00000399380.3_Missense_Mutation_p.I617T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	648	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATTTCTCTTAATAGTCACTGG	0.358																																																	0			18											69.0	68.0	68.0					18																	25565524		2203	4300	6503	23819522	SO:0001583	missense	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1943T>C	18.37:g.25565524A>G	ENSP00000269141:p.Ile648Thr		23819522	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.425302	0.62733	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.60672	0.17;0.17	5.96	5.96	0.96718	Cadherin (3);Cadherin-like (1);	0.110120	0.64402	D	0.000005	T	0.72260	0.3438	M	0.70842	2.15	0.80722	D	1	P;P	0.47545	0.833;0.897	P;P	0.57846	0.828;0.706	T	0.72164	-0.4373	10	0.44086	T	0.13	.	16.4221	0.83766	1.0:0.0:0.0:0.0	.	617;648	A8MWK3;P19022	.;CADH2_HUMAN	T	648;617	ENSP00000269141:I648T;ENSP00000382312:I617T	ENSP00000269141:I648T	I	-	2	0	CDH2	23819522	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.904000	0.92590	2.283000	0.76528	0.477000	0.44152	ATT		0.358	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
TRAPPC8	22878	hgsc.bcm.edu	37	18	29493394	29493394	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr18:29493394A>G	ENST00000283351.4	-	5	1044	c.709T>C	c.(709-711)Tca>Cca	p.S237P	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.S183P|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.S237P	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	237					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTTCATCTGATGCTCGATTA	0.323																																																	0			18											91.0	92.0	92.0					18																	29493394		2203	4300	6503	27747392	SO:0001583	missense	0			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.709T>C	18.37:g.29493394A>G	ENSP00000283351:p.Ser237Pro		27747392	A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	A	11.98	1.800933	0.31869	.	.	ENSG00000153339	ENST00000283351	T	0.18338	2.22	5.65	4.42	0.53409	.	0.425407	0.24200	N	0.040622	T	0.10680	0.0261	N	0.25890	0.77	0.28954	N	0.890253	B;B	0.22414	0.002;0.069	B;B	0.23018	0.011;0.043	T	0.08722	-1.0708	10	0.30078	T	0.28	.	6.0861	0.19968	0.4766:0.3057:0.0:0.2176	.	237;237	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	P	237	ENSP00000283351:S237P	ENSP00000283351:S237P	S	-	1	0	TRAPPC8	27747392	0.915000	0.31059	1.000000	0.80357	0.998000	0.95712	1.193000	0.32162	2.276000	0.75962	0.528000	0.53228	TCA		0.323	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939	
SERPINB10	5273	hgsc.bcm.edu	37	18	61585319	61585319	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr18:61585319A>G	ENST00000238508.3	+	4	414	c.355A>G	c.(355-357)Acg>Gcg	p.T119A		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	119					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TGGAGAGAAAACGTATGCATT	0.348																																																	0			18											103.0	94.0	97.0					18																	61585319		2202	4300	6502	59736299	SO:0001583	missense	5273			U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.355A>G	18.37:g.61585319A>G	ENSP00000238508:p.Thr119Ala		59736299	Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	A	7.543	0.661148	0.14645	.	.	ENSG00000242550	ENST00000238508	D	0.83075	-1.68	5.83	2.04	0.26737	Serpin domain (3);	0.242512	0.41500	N	0.000877	T	0.76118	0.3943	M	0.64676	1.99	0.31591	N	0.653924	B	0.17038	0.02	B	0.20184	0.028	T	0.70077	-0.4971	10	0.59425	D	0.04	.	3.1416	0.06457	0.5332:0.0:0.1731:0.2937	.	119	P48595	SPB10_HUMAN	A	119	ENSP00000238508:T119A	ENSP00000238508:T119A	T	+	1	0	SERPINB10	59736299	0.488000	0.25996	0.185000	0.23176	0.089000	0.18198	1.061000	0.30542	0.107000	0.17824	0.533000	0.62120	ACG		0.348	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024	
VHL	7428	hgsc.bcm.edu	37	3	10183677	10183677	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:10183677G>A	ENST00000256474.2	+	1	986	c.146G>A	c.(145-147)gGc>gAc	p.G49D	VHL_ENST00000345392.2_Missense_Mutation_p.G49D|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	49	8 X 5 AA tandem repeats of G-[PAVG]-E-E- [DAYSLE].				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.G49D(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GAGGAACTGGGCGCCGAGGAG	0.721		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	1	Substitution - Missense(1)	kidney(1)	3											5.0	9.0	8.0					3																	10183677		2069	4085	6154	10158677	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.146G>A	3.37:g.10183677G>A	ENSP00000256474:p.Gly49Asp		10158677	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937583	0.52972	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.85556	-2.0;-2.0	4.58	1.56	0.23342	.	0.384464	0.22182	N	0.063498	T	0.70116	0.3187	N	0.19112	0.55	0.09310	N	1	B;B	0.14438	0.01;0.005	B;B	0.15052	0.012;0.004	T	0.58775	-0.7577	10	0.46703	T	0.11	-6.8546	4.7288	0.12954	0.0893:0.1491:0.6087:0.1528	.	49;49	P40337-2;P40337	.;VHL_HUMAN	D	49	ENSP00000256474:G49D;ENSP00000344757:G49D	ENSP00000256474:G49D	G	+	2	0	VHL	10158677	0.227000	0.23707	0.037000	0.18230	0.029000	0.11900	1.680000	0.37607	0.652000	0.30806	0.550000	0.68814	GGC		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	
VHL	7428	hgsc.bcm.edu	37	3	10188219	10188219	+	Missense_Mutation	SNP	A	A	G	rs5030832		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:10188219A>G	ENST00000256474.2	+	2	1202	c.362A>G	c.(361-363)gAt>gGt	p.D121G	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	121	Involved in binding to CCT complex.		D -> G (in VHLD; type I; dbSNP:rs5030832). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.D121G(3)|p.D121_A122del(1)|p.?(1)|p.R120fs*34(1)|p.R120fs*10(1)|p.L118_G123>P(1)|p.W117fs*1(1)|p.A122fs*7(1)|p.D121fs*11(1)|p.D121fs*35(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTCTTCAGAGATGCAGGGACA	0.502		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	12	Deletion - Frameshift(5)|Substitution - Missense(3)|Deletion - In frame(1)|Insertion - Frameshift(1)|Unknown(1)|Complex - deletion inframe(1)	kidney(12)	3	GRCh37	CM941374	VHL	M	rs5030832						186.0	173.0	177.0					3																	10188219		2203	4300	6503	10163219	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.362A>G	3.37:g.10188219A>G	ENSP00000256474:p.Asp121Gly		10163219	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.856490	0.51376	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99836	-7.05	5.07	3.89	0.44902	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.050790	0.85682	D	0.000000	D	0.99704	0.9887	M	0.79011	2.435	0.80722	D	1	D	0.63880	0.993	D	0.69654	0.965	D	0.97903	1.0304	10	0.72032	D	0.01	-24.4217	10.4626	0.44590	0.8361:0.1639:0.0:0.0	rs5030832	121	P40337	VHL_HUMAN	G	121;39	ENSP00000256474:D121G	ENSP00000256474:D121G	D	+	2	0	VHL	10163219	1.000000	0.71417	0.998000	0.56505	0.249000	0.25844	5.209000	0.65208	0.869000	0.35703	-0.460000	0.05396	GAT		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	
SH3BP5	9467	hgsc.bcm.edu	37	3	15311315	15311315	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:15311315C>T	ENST00000383791.3	-	4	620	c.400G>A	c.(400-402)Gag>Aag	p.E134K	SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000465894.2_5'Flank|SH3BP5_ENST00000408919.3_5'UTR|SH3BP5_ENST00000426925.1_5'UTR	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	134					intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						GAGATGGTCTCCTTGGCGGCA	0.607																																																	0			3											111.0	114.0	113.0					3																	15311315		2203	4300	6503	15286319	SO:0001583	missense	9467			AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.400G>A	3.37:g.15311315C>T	ENSP00000373301:p.Glu134Lys		15286319	B3KQW6|Q5JWV9	Missense_Mutation	SNP	ENST00000383791.3	37	CCDS2625.2	.	.	.	.	.	.	.	.	.	.	C	34	5.318577	0.95682	.	.	ENSG00000131370	ENST00000383791	.	.	.	5.62	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.79701	0.4491	M	0.87900	2.915	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.81304	-0.0993	9	0.87932	D	0	-22.5735	10.9615	0.47387	0.0:0.7989:0.1305:0.0706	.	134	O60239	3BP5_HUMAN	K	134	.	ENSP00000373301:E134K	E	-	1	0	SH3BP5	15286319	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	7.710000	0.84655	0.731000	0.32448	0.555000	0.69702	GAG		0.607	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340740.2	NM_004844	
ANKRD28	23243	hgsc.bcm.edu	37	3	15776985	15776985	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:15776985G>A	ENST00000399451.2	-	6	849	c.482C>T	c.(481-483)tCt>tTt	p.S161F	RP11-44D5.1_ENST00000605733.1_RNA|ANKRD28_ENST00000383777.1_Missense_Mutation_p.S194F|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	161						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GGCACCTCTAGACAAGAGTAG	0.338																																																	0			3											61.0	58.0	59.0					3																	15776985		1846	4074	5920	15751989	SO:0001583	missense	23243			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.482C>T	3.37:g.15776985G>A	ENSP00000382379:p.Ser161Phe		15751989	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650205	0.87958	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.67523	-0.27;-0.27;-0.27	5.38	4.49	0.54785	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.77638	0.4160	L	0.58925	1.835	0.80722	D	1	D;D;P	0.57257	0.979;0.978;0.952	P;P;P	0.62740	0.906;0.62;0.905	T	0.80538	-0.1338	10	0.87932	D	0	.	16.1167	0.81309	0.0:0.134:0.866:0.0	.	194;191;161	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	F	161;194;161	ENSP00000382379:S161F;ENSP00000373287:S194F;ENSP00000397341:S161F	ENSP00000373287:S194F	S	-	2	0	ANKRD28	15751989	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.943000	0.87716	1.250000	0.43966	0.484000	0.47621	TCT		0.338	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	
TOP2B	7155	hgsc.bcm.edu	37	3	25675409	25675409	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:25675409T>C	ENST00000264331.4	-	8	948	c.949A>G	c.(949-951)Aga>Gga	p.R317G	TOP2B_ENST00000435706.2_Missense_Mutation_p.R312G	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	317					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.R312G(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	ACATCCCATCTTTCATTTGCA	0.343																																																	1	Substitution - Missense(1)	lung(1)	3											142.0	137.0	138.0					3																	25675409		1849	4085	5934	25650413	SO:0001583	missense	7155			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.949A>G	3.37:g.25675409T>C	ENSP00000264331:p.Arg317Gly		25650413	Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37		.	.	.	.	.	.	.	.	.	.	T	22.4	4.281582	0.80692	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.50001	0.76;0.76	5.49	4.27	0.50696	.	0.046152	0.85682	D	0.000000	T	0.72882	0.3516	M	0.92880	3.355	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	T	0.79697	-0.1695	10	0.87932	D	0	-6.27	11.7693	0.51949	0.0:0.0:0.28:0.72	.	312	Q02880-2	.	G	312;317;312	ENSP00000396704:R312G;ENSP00000264331:R317G	ENSP00000264331:R317G	R	-	1	2	TOP2B	25650413	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.308000	0.51896	2.092000	0.63282	0.528000	0.53228	AGA		0.343	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			
MLH1	4292	hgsc.bcm.edu	37	3	37053589	37053589	+	Splice_Site	SNP	C	C	A	rs267607774|rs587779032|rs63751615|rs267607779		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:37053589C>A	ENST00000231790.2	+	8	892	c.676C>A	c.(676-678)Cga>Aga	p.R226R	MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000435176.1_Splice_Site_p.R128R|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000536378.1_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	226			Missing (in HNPCC2).|R -> L (in HNPCC2). {ECO:0000269|PubMed:8566964}.		ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.R226*(2)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCTGTTAGTCGGTATGTCGA	0.353		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	3	Substitution - Nonsense(2)|Whole gene deletion(1)	ovary(1)|stomach(1)|large_intestine(1)	3	GRCh37	CM960967	MLH1	M	rs121912958						116.0	105.0	109.0					3																	37053589		2203	4300	6503	37028593	SO:0001630	splice_region_variant	4292	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.677+1C>A	3.37:g.37053589C>A			37028593	B4DI13|B4DQ11|E9PCU2	Silent	SNP	ENST00000231790.2	37	CCDS2663.1																																																																																				0.353	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249	Silent
CTNNB1	1499	hgsc.bcm.edu	37	3	41266134	41266134	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:41266134C>T	ENST00000349496.5	+	3	411	c.131C>T	c.(130-132)cCt>cTt	p.P44L	CTNNB1_ENST00000396185.3_Missense_Mutation_p.P44L|CTNNB1_ENST00000396183.3_Missense_Mutation_p.P44L|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P37L|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P44L	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	44					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|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 cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.P44L(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_S45insAP(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S45del(1)|p.H24_M131del(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.P44del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		ACCACAGCTCCTTCTCTGAGT	0.502		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	126	Deletion - In frame(98)|Complex - deletion inframe(18)|Unknown(7)|Substitution - Missense(2)|Insertion - In frame(1)	liver(88)|large_intestine(17)|stomach(7)|adrenal_gland(3)|soft_tissue(2)|small_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|skin(2)|kidney(2)|thyroid(1)	3											85.0	75.0	79.0					3																	41266134		2203	4300	6503	41241138	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.131C>T	3.37:g.41266134C>T	ENSP00000344456:p.Pro44Leu		41241138	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779708	0.90195	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.82116	0.4967	M	0.64997	1.995	0.80722	D	1	D	0.67145	0.996	P	0.61477	0.889	T	0.82655	-0.0350	10	0.87932	D	0	-5.5494	20.2983	0.98569	0.0:1.0:0.0:0.0	.	44	P35222	CTNB1_HUMAN	L	37;44;44;44;44;37;44;44;44	ENSP00000400508:P37L;ENSP00000385604:P44L;ENSP00000412219:P44L;ENSP00000379486:P44L;ENSP00000344456:P44L;ENSP00000411226:P37L;ENSP00000379488:P44L;ENSP00000409302:P44L;ENSP00000401599:P44L	ENSP00000344456:P44L	P	+	2	0	CTNNB1	41241138	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	CCT		0.502	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
KLHL18	23276	hgsc.bcm.edu	37	3	47385056	47385056	+	Silent	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:47385056C>T	ENST00000232766.5	+	10	1370	c.1350C>T	c.(1348-1350)taC>taT	p.Y450Y	KLHL18_ENST00000455924.2_Silent_p.Y338Y	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	450										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TGGAACACTACAACCACCACA	0.632																																																	0			3											41.0	43.0	42.0					3																	47385056		2203	4300	6503	47360060	SO:0001819	synonymous_variant	23276			AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.1350C>T	3.37:g.47385056C>T			47360060	A8K612|Q7Z3E8|Q8N125	Silent	SNP	ENST00000232766.5	37	CCDS33749.1																																																																																				0.632	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010	
USP4	7375	hgsc.bcm.edu	37	3	49337909	49337909	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:49337909T>C	ENST00000265560.4	-	11	1549	c.1503A>G	c.(1501-1503)agA>agG	p.R501R	USP4_ENST00000351842.4_Silent_p.R454R|USP4_ENST00000488520.1_5'Flank	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	501	USP.|Ubiquitin-like 2.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CCTGAGTAGGTCTGCAGTGAG	0.532																																																	0			3											116.0	114.0	114.0					3																	49337909		2203	4300	6503	49312913	SO:0001819	synonymous_variant	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1503A>G	3.37:g.49337909T>C			49312913	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Silent	SNP	ENST00000265560.4	37	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	T	10.19	1.280966	0.23392	.	.	ENSG00000114316	ENST00000431357	.	.	.	5.83	0.917	0.19380	.	.	.	.	.	T	0.55800	0.1943	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47394	-0.9121	4	.	.	.	-18.5278	8.833	0.35096	0.0:0.2953:0.0:0.7047	.	.	.	.	A	240	.	.	T	-	1	0	USP4	49312913	0.996000	0.38824	0.997000	0.53966	0.991000	0.79684	0.344000	0.19962	0.141000	0.18875	0.459000	0.35465	ACC		0.532	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443	
IQCF1	132141	hgsc.bcm.edu	37	3	51930880	51930880	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:51930880T>C	ENST00000310914.5	-	3	201	c.139A>G	c.(139-141)Aca>Gca	p.T47A		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	47										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTGTCCACTGTCTGTGTCTCA	0.473																																																	0			3											172.0	163.0	166.0					3																	51930880		2203	4300	6503	51905920	SO:0001583	missense	132141			BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.139A>G	3.37:g.51930880T>C	ENSP00000307958:p.Thr47Ala		51905920	Q8N711	Missense_Mutation	SNP	ENST00000310914.5	37	CCDS2836.1	.	.	.	.	.	.	.	.	.	.	T	0.395	-0.921453	0.02396	.	.	ENSG00000173389	ENST00000535733;ENST00000310914	T	0.29142	1.58	2.96	0.587	0.17439	.	4.031320	0.00397	N	0.000049	T	0.16727	0.0402	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.13764	-1.0497	10	0.09084	T	0.74	.	4.4529	0.11630	0.0:0.3283:0.0:0.6717	.	47	Q8N6M8	IQCF1_HUMAN	A	47	ENSP00000307958:T47A	ENSP00000307958:T47A	T	-	1	0	IQCF1	51905920	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.074000	0.11450	0.118000	0.18165	0.448000	0.29417	ACA		0.473	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	NM_152397	
TKT	7086	hgsc.bcm.edu	37	3	53260781	53260781	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:53260781A>G	ENST00000462138.1	-	13	1775	c.1687T>C	c.(1687-1689)Tat>Cat	p.Y563H	TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Missense_Mutation_p.Y563H|TKT_ENST00000423516.1_Missense_Mutation_p.Y571H|TKT_ENST00000296289.6_Missense_Mutation_p.Y516H			P29401	TKT_HUMAN	transketolase	563					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)	p.Y563D(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		CCTTCATAATAATGGTCCTCC	0.617																																					Colon(133;1506 2347 35238 42177)												1	Substitution - Missense(1)	ovary(1)	3											112.0	102.0	106.0					3																	53260781		2203	4300	6503	53235821	SO:0001583	missense	7086				CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1687T>C	3.37:g.53260781A>G	ENSP00000417773:p.Tyr563His		53235821	A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	37	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.275613	0.59649	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.14	5.14	0.70334	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93413	0.7899	L	0.52823	1.66	0.80722	D	1	D;P;P	0.89917	1.0;0.93;0.886	D;P;P	0.97110	1.0;0.864;0.69	D	0.92156	0.5732	10	0.29301	T	0.29	-17.4573	14.9669	0.71201	1.0:0.0:0.0:0.0	.	571;480;563	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	H	563;563;571;516;397	ENSP00000417773:Y563H;ENSP00000405455:Y563H;ENSP00000391481:Y571H;ENSP00000296289:Y516H	ENSP00000296289:Y516H	Y	-	1	0	TKT	53235821	1.000000	0.71417	0.936000	0.37596	0.298000	0.27526	9.253000	0.95501	1.953000	0.56701	0.533000	0.62120	TAT		0.617	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1		
PSMD6	9861	hgsc.bcm.edu	37	3	64008049	64008049	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:64008049T>C	ENST00000295901.4	-	2	436	c.296A>G	c.(295-297)gAa>gGa	p.E99G	PSMD6_ENST00000492933.1_Missense_Mutation_p.E152G|PSMD6_ENST00000482510.1_Missense_Mutation_p.E60G|PSMD6_ENST00000394431.2_Missense_Mutation_p.E61G|RP11-245J9.6_ENST00000605919.1_RNA	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	99					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		ATCGCGAATTTCGCTCTCTCC	0.453																																																	0			3											177.0	169.0	172.0					3																	64008049		2203	4300	6503	63983089	SO:0001583	missense	9861			AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"""Proteasome (prosome, macropain) subunits"""	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.296A>G	3.37:g.64008049T>C	ENSP00000295901:p.Glu99Gly		63983089	A8K2E0|E9PHI9|Q6UV22	Missense_Mutation	SNP	ENST00000295901.4	37	CCDS2901.1	.	.	.	.	.	.	.	.	.	.	T	30	5.049784	0.93740	.	.	ENSG00000163636	ENST00000295901;ENST00000492933;ENST00000394431;ENST00000482510;ENST00000497323;ENST00000478185	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.19	5.19	0.71726	.	0.090629	0.85682	D	0.000000	D	0.91307	0.7259	H	0.95328	3.655	0.80722	D	1	D;D;D;D	0.71674	0.992;0.998;0.998;0.975	D;D;D;D	0.81914	0.938;0.981;0.995;0.936	D	0.93742	0.7051	10	0.72032	D	0.01	.	15.2232	0.73330	0.0:0.0:0.0:1.0	.	61;60;152;99	Q6UV22;E9PHI9;C9IZE4;Q15008	.;.;.;PSMD6_HUMAN	G	99;152;61;60;113;120	ENSP00000295901:E99G;ENSP00000418695:E152G;ENSP00000377952:E61G;ENSP00000419227:E60G;ENSP00000418887:E113G	ENSP00000295901:E99G	E	-	2	0	PSMD6	63983089	1.000000	0.71417	0.980000	0.43619	0.970000	0.65996	7.786000	0.85741	2.184000	0.69523	0.533000	0.62120	GAA		0.453	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352082.1	NM_014814	
FAM19A1	407738	hgsc.bcm.edu	37	3	68466553	68466553	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:68466553G>A	ENST00000478136.1	+	3	732	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	FAM19A1_ENST00000491017.1_3'UTR|FAM19A1_ENST00000496687.1_Missense_Mutation_p.R81Q	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	81						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)		p.R81Q(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		ACAAGAAACCGGCCTTCTTGC	0.418																																																	2	Substitution - Missense(2)	central_nervous_system(2)	3											146.0	147.0	147.0					3																	68466553		1899	4118	6017	68549243	SO:0001583	missense	407738			AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.242G>A	3.37:g.68466553G>A	ENSP00000418575:p.Arg81Gln		68549243	A8K0V3|Q8TCL8	Missense_Mutation	SNP	ENST00000478136.1	37	CCDS54606.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565394	0.27915	.	.	ENSG00000183662	ENST00000478136;ENST00000496687	.	.	.	5.55	4.68	0.58851	.	0.112355	0.64402	D	0.000019	T	0.25158	0.0611	L	0.27053	0.805	0.27313	N	0.95725	P	0.52061	0.95	B	0.40702	0.338	T	0.09443	-1.0674	9	0.16420	T	0.52	.	14.678	0.68996	0.0701:0.0:0.9299:0.0	.	81	Q7Z5A9	F19A1_HUMAN	Q	81	.	ENSP00000418575:R81Q	R	+	2	0	FAM19A1	68549243	1.000000	0.71417	0.928000	0.36995	0.141000	0.21300	5.961000	0.70356	1.482000	0.48325	0.591000	0.81541	CGG		0.418	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352004.1	NM_213609	
SHQ1	55164	hgsc.bcm.edu	37	3	72866503	72866503	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:72866503G>A	ENST00000325599.8	-	7	899	c.760C>T	c.(760-762)Cga>Tga	p.R254*	SHQ1_ENST00000463369.1_Nonsense_Mutation_p.R226*	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	254					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		ACAAATTTTCGTAGCTGATAC	0.363																																																	0			3											88.0	84.0	86.0					3																	72866503		2203	4299	6502	72949193	SO:0001587	stop_gained	55164			BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.760C>T	3.37:g.72866503G>A	ENSP00000315182:p.Arg254*		72949193	B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Nonsense_Mutation	SNP	ENST00000325599.8	37	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	G	39	7.304644	0.98200	.	.	ENSG00000144736	ENST00000325599;ENST00000463369	.	.	.	5.79	2.86	0.33363	.	0.068718	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6998	13.7329	0.62799	0.0:0.0:0.3849:0.6151	.	.	.	.	X	254;226	.	ENSP00000315182:R254X	R	-	1	2	SHQ1	72949193	1.000000	0.71417	0.913000	0.36048	0.898000	0.52572	3.274000	0.51631	0.772000	0.33382	-1.338000	0.01255	CGA		0.363	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130	
OR5AC2	81050	hgsc.bcm.edu	37	3	97806804	97806804	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:97806804G>A	ENST00000358642.2	+	1	788	c.788G>A	c.(787-789)cGt>cAt	p.R263H		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	263					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R263H(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATGTATGTGCGTCCTGCATCT	0.428																																																	1	Substitution - Missense(1)	urinary_tract(1)	3											104.0	94.0	97.0					3																	97806804		2203	4300	6503	99289494	SO:0001583	missense	81050			AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.788G>A	3.37:g.97806804G>A	ENSP00000351466:p.Arg263His		99289494		Missense_Mutation	SNP	ENST00000358642.2	37	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484251	0.44147	.	.	ENSG00000196578	ENST00000358642	T	0.37752	1.18	4.51	0.388	0.16264	GPCR, rhodopsin-like superfamily (1);	0.431404	0.17055	N	0.188790	T	0.31979	0.0814	M	0.70903	2.155	0.09310	N	1	B	0.18166	0.026	B	0.18263	0.021	T	0.28267	-1.0049	10	0.49607	T	0.09	-0.8097	4.9953	0.14235	0.1694:0.0:0.5431:0.2875	.	263	Q9NZP5	O5AC2_HUMAN	H	263	ENSP00000351466:R263H	ENSP00000351466:R263H	R	+	2	0	OR5AC2	99289494	0.000000	0.05858	0.001000	0.08648	0.548000	0.35241	-0.623000	0.05546	0.180000	0.19960	0.590000	0.80494	CGT		0.428	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1		
ABI3BP	25890	hgsc.bcm.edu	37	3	100489784	100489784	+	Missense_Mutation	SNP	C	C	A	rs376662738		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:100489784C>A	ENST00000284322.5	-	29	2520	c.2411G>T	c.(2410-2412)cGa>cTa	p.R804L	ABI3BP_ENST00000471714.1_Missense_Mutation_p.R1506L|ABI3BP_ENST00000383691.4_Missense_Mutation_p.R758L	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	804					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.R805Q(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTGGATGTATCGCACATGAGG	0.458																																																	1	Substitution - Missense(1)	large_intestine(1)	3											156.0	155.0	155.0					3																	100489784		1952	4165	6117	101972474	SO:0001583	missense	25890			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2411G>T	3.37:g.100489784C>A	ENSP00000284322:p.Arg804Leu		101972474	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.72|18.72	3.684299|3.684299	0.68157|0.68157	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000495591|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691;ENST00000486770	.|T;T;T	.|0.24350	.|2.19;1.89;1.86	5.88|5.88	3.77|3.77	0.43336|0.43336	.|.	.|0.391146	.|0.24869	.|N	.|0.034944	T|T	0.31734|0.31734	0.0806|0.0806	L|L	0.36672|0.36672	1.1|1.1	0.24994|0.24994	N|N	0.991519|0.991519	.|D;P;D;D	.|0.71674	.|0.998;0.799;0.98;0.995	.|P;B;P;D	.|0.64144	.|0.871;0.343;0.822;0.922	T|T	0.06267|0.06267	-1.0836|-1.0836	5|10	.|0.51188	.|T	.|0.08	-7.3535|-7.3535	4.9128|4.9128	0.13831|0.13831	0.0:0.5686:0.181:0.2504|0.0:0.5686:0.181:0.2504	.|.	.|758;804;1506;513	.|B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.|.;TARSH_HUMAN;.;.	Y|L	860|1506;804;513;215;758;216	.|ENSP00000420524:R1506L;ENSP00000284322:R804L;ENSP00000373189:R758L	.|ENSP00000284322:R804L	D|R	-|-	1|2	0|0	ABI3BP|ABI3BP	101972474|101972474	0.024000|0.024000	0.19004|0.19004	1.000000|1.000000	0.80357|0.80357	0.849000|0.849000	0.48306|0.48306	1.363000|1.363000	0.34159|0.34159	1.489000|1.489000	0.48450|0.48450	0.591000|0.591000	0.81541|0.81541	GAT|CGA		0.458	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		
ZPLD1	131368	hgsc.bcm.edu	37	3	102187823	102187823	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:102187823T>C	ENST00000491959.1	+	15	1659	c.777T>C	c.(775-777)ccT>ccC	p.P259P	ZPLD1_ENST00000466937.1_Silent_p.P259P|ZPLD1_ENST00000306176.1_Silent_p.P275P			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	259	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACAAGGACCCTCAGACCACCG	0.438																																																	0			3											64.0	64.0	64.0					3																	102187823		2203	4300	6503	103670513	SO:0001819	synonymous_variant	131368			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.777T>C	3.37:g.102187823T>C			103670513	Q49AS1|Q8WU36	Silent	SNP	ENST00000491959.1	37																																																																																					0.438	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056	
KLF15	28999	hgsc.bcm.edu	37	3	126071520	126071520	+	Silent	SNP	G	G	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:126071520G>T	ENST00000296233.3	-	2	476	c.246C>A	c.(244-246)tcC>tcA	p.S82S	KLF15_ENST00000509675.1_5'UTR	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	82					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GCGTGGCCTGGGACAATAGGA	0.682																																																	0			3											10.0	10.0	10.0					3																	126071520		2192	4286	6478	127554210	SO:0001819	synonymous_variant	28999			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.246C>A	3.37:g.126071520G>T			127554210		Silent	SNP	ENST00000296233.3	37	CCDS3036.1																																																																																				0.682	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079	
COL6A6	131873	hgsc.bcm.edu	37	3	130300562	130300562	+	Silent	SNP	T	T	C	rs373427912		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:130300562T>C	ENST00000358511.6	+	8	3736	c.3705T>C	c.(3703-3705)acT>acC	p.T1235T	COL6A6_ENST00000453409.2_Silent_p.T1235T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1235	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.T1235T(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCACAGAGACTCAGGTCAGTG	0.443																																																	1	Substitution - coding silent(1)	ovary(1)	3											97.0	96.0	96.0					3																	130300562		2016	4174	6190	131783252	SO:0001819	synonymous_variant	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3705T>C	3.37:g.130300562T>C			131783252	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	CCDS46911.1																																																																																				0.443	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
UBA5	79876	hgsc.bcm.edu	37	3	132389866	132389866	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:132389866T>C	ENST00000356232.4	+	6	1624	c.552T>C	c.(550-552)aaT>aaC	p.N184N	UBA5_ENST00000473651.1_Silent_p.N184N|UBA5_ENST00000264991.4_Silent_p.N128N|UBA5_ENST00000494238.2_Silent_p.N128N|UBA5_ENST00000493720.2_Silent_p.N184N	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	184					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GTGTGGACAATTTTGAAGCTC	0.328																																																	0			3											188.0	183.0	185.0					3																	132389866		2203	4300	6503	133872556	SO:0001819	synonymous_variant	79876			AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"""Ubiquitin-like modifier activating enzymes"""	23230	protein-coding gene	gene with protein product	"""UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"""	610552	"""ubiquitin-activating enzyme E1-domain containing 1"""	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.552T>C	3.37:g.132389866T>C			133872556	A6NJL3|D3DNC8|Q96ST1	Silent	SNP	ENST00000356232.4	37	CCDS3076.1																																																																																				0.328	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818	
SLITRK3	22865	hgsc.bcm.edu	37	3	164908337	164908337	+	Silent	SNP	G	G	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:164908337G>T	ENST00000475390.1	-	2	725	c.282C>A	c.(280-282)acC>acA	p.T94T	SLITRK3_ENST00000241274.3_Silent_p.T94T			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	94					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.T94T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GAAAACTGTTGGTATATAATT	0.343										HNSCC(40;0.11)																																							1	Substitution - coding silent(1)	ovary(1)	3											53.0	57.0	56.0					3																	164908337		2203	4299	6502	166391031	SO:0001819	synonymous_variant	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.282C>A	3.37:g.164908337G>T			166391031	Q1RMY6	Silent	SNP	ENST00000475390.1	37	CCDS3197.1																																																																																				0.343	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926	
TNIK	23043	hgsc.bcm.edu	37	3	170846571	170846571	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:170846571C>T	ENST00000436636.2	-	16	2049	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	TNIK_ENST00000470834.1_Missense_Mutation_p.E540K|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000460047.1_Intron|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000284483.8_Missense_Mutation_p.E569K|TNIK_ENST00000369326.5_Missense_Mutation_p.E540K|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000357327.5_Missense_Mutation_p.E540K	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	569	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTGAAGGACTCCGACCTTGGG	0.567																																																	0			3											57.0	61.0	60.0					3																	170846571		1978	4163	6141	172329265	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1705G>A	3.37:g.170846571C>T	ENSP00000399511:p.Glu569Lys		172329265	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060846	0.93846	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000284483;ENST00000357327;ENST00000470834	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	5.11	5.11	0.69529	.	0.116276	0.64402	D	0.000018	T	0.64046	0.2563	L	0.35854	1.095	0.80722	D	1	D;D;D;D	0.58970	0.984;0.984;0.984;0.973	P;P;P;P	0.59115	0.79;0.852;0.79;0.829	T	0.58120	-0.7692	10	0.25751	T	0.34	.	18.7271	0.91718	0.0:1.0:0.0:0.0	.	540;569;540;569	Q9UKE5-6;Q9UKE5-4;Q9UKE5-2;Q9UKE5	.;.;.;TNIK_HUMAN	K	569;540;569;540;540	ENSP00000399511:E569K;ENSP00000358332:E540K;ENSP00000284483:E569K;ENSP00000349880:E540K;ENSP00000419990:E540K	ENSP00000284483:E569K	E	-	1	0	TNIK	172329265	1.000000	0.71417	0.978000	0.43139	0.991000	0.79684	7.320000	0.79064	2.652000	0.90054	0.561000	0.74099	GAG		0.567	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
PIK3CA	5290	hgsc.bcm.edu	37	3	178922326	178922326	+	Silent	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:178922326A>G	ENST00000263967.3	+	6	1252	c.1095A>G	c.(1093-1095)gaA>gaG	p.E365E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	365	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		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)			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)	ATGGAGGAGAACCCTTATGTG	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"""	0			3											225.0	184.0	197.0					3																	178922326		1845	4096	5941	180405020	SO:0001819	synonymous_variant	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.1095A>G	3.37:g.178922326A>G			180405020	Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	CCDS43171.1																																																																																				0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	hgsc.bcm.edu	37	3	178952035	178952035	+	Silent	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:178952035A>G	ENST00000263967.3	+	21	3247	c.3090A>G	c.(3088-3090)aaA>aaG	p.K1030K	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1030	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			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)	CCTTAGATAAAACTGAGCAAG	0.378		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"""	0			3											93.0	82.0	85.0					3																	178952035		1871	4117	5988	180434729	SO:0001819	synonymous_variant	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.3090A>G	3.37:g.178952035A>G			180434729	Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	CCDS43171.1																																																																																				0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
FXR1	8087	hgsc.bcm.edu	37	3	180669153	180669153	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:180669153C>T	ENST00000357559.4	+	8	1082	c.698C>T	c.(697-699)gCa>gTa	p.A233V	FXR1_ENST00000491062.1_Missense_Mutation_p.A184V|FXR1_ENST00000480918.1_Missense_Mutation_p.A220V|FXR1_ENST00000468861.1_Missense_Mutation_p.A148V|FXR1_ENST00000445140.2_Missense_Mutation_p.A233V|FXR1_ENST00000305586.7_Missense_Mutation_p.A148V	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	233	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.		A -> T (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			ATGGGCCTGGCAATAGGAACA	0.388																																																	0			3											102.0	98.0	100.0					3																	180669153		2203	4300	6503	182151847	SO:0001583	missense	8087			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.698C>T	3.37:g.180669153C>T	ENSP00000350170:p.Ala233Val		182151847	A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	C	34	5.338588	0.95783	.	.	ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13	5.35	5.35	0.76521	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.52484	0.1737	M	0.82716	2.605	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D	0.78314	0.984;0.991;0.988;0.932;0.985;0.987	T	0.58864	-0.7561	10	0.87932	D	0	-10.3035	19.0696	0.93127	0.0:1.0:0.0:0.0	.	220;184;148;148;233;233	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	V	233;148;184;148;233;220	ENSP00000350170:A233V;ENSP00000307633:A148V;ENSP00000420643:A184V;ENSP00000420515:A148V;ENSP00000388828:A233V;ENSP00000418097:A220V	ENSP00000307633:A148V	A	+	2	0	FXR1	182151847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.788000	0.85771	2.485000	0.83878	0.563000	0.77884	GCA		0.388	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5		
IGF2BP2	10644	hgsc.bcm.edu	37	3	185542704	185542705	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:185542704_185542705GG>CT	ENST00000382199.2	-	1	139_140	c.44_45CC>AG	c.(43-45)aCC>aAG	p.T15K	IGF2BP2_ENST00000457616.2_Missense_Mutation_p.T15K|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.T15K	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	15	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGTCGTCGGCGGTGACGGCGGG	0.683																																																	0			3																																								187025398|187025399	SO:0001583	missense	10644			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.44_45delinsCT	3.37:g.185542704_185542705delinsCT	ENSP00000371634:p.Thr15Lys		187025398|187025399	A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Silent|Missense_Mutation	SNP	ENST00000382199.2	37	CCDS3273.2																																																																																				0.683	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548	
TRA2B	6434	hgsc.bcm.edu	37	3	185639878	185639878	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:185639878G>A	ENST00000453386.2	-	5	834	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	TRA2B_ENST00000382191.4_Missense_Mutation_p.R87C	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	187	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R187C(1)		breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						CTGATCCTACGCCCATCAAGC	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)	3											142.0	134.0	137.0					3																	185639878		2203	4300	6503	187122572	SO:0001583	missense	6434			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.559C>T	3.37:g.185639878G>A	ENSP00000416959:p.Arg187Cys		187122572	B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	ENST00000453386.2	37	CCDS33905.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365073	0.82463	.	.	ENSG00000136527	ENST00000453386;ENST00000382191	D;D	0.92699	-3.09;-3.09	6.03	5.15	0.70609	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.94847	0.8335	M	0.92412	3.305	0.80722	D	1	P;P	0.47484	0.896;0.896	P;P	0.48571	0.582;0.582	D	0.95190	0.8307	10	0.87932	D	0	-4.8752	11.7683	0.51943	0.0:0.1335:0.7279:0.1385	.	187;187	B2RDQ3;P62995	.;TRA2B_HUMAN	C	187;87	ENSP00000416959:R187C;ENSP00000371626:R87C	ENSP00000371626:R87C	R	-	1	0	TRA2B	187122572	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	7.573000	0.82421	1.539000	0.49286	-0.176000	0.13171	CGT		0.378	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593	
RTP1	132112	hgsc.bcm.edu	37	3	186917438	186917438	+	Silent	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr3:186917438C>T	ENST00000312295.4	+	2	402	c.372C>T	c.(370-372)cgC>cgT	p.R124R	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	124			R -> S (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GCTCGGTGCGCATGCGCGTCT	0.652																																																	0			3											41.0	40.0	40.0					3																	186917438		2203	4296	6499	188400132	SO:0001819	synonymous_variant	132112			BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.372C>T	3.37:g.186917438C>T			188400132		Silent	SNP	ENST00000312295.4	37	CCDS3287.2																																																																																				0.652	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708	
KLRK1	22914	hgsc.bcm.edu	37	12	10532376	10532376	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr12:10532376A>G	ENST00000240618.6	-	4	304	c.164T>C	c.(163-165)tTc>tCc	p.F55S	RP11-277P12.20_ENST00000500682.1_RNA|KLRK1_ENST00000540818.1_Missense_Mutation_p.F55S|KLRC4-KLRK1_ENST00000539300.1_3'UTR	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	55					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						GAAGCAGCAGAAAAAAAATGG	0.338																																																	0			12											51.0	48.0	49.0					12																	10532376		2203	4300	6503	10423643	SO:0001583	missense	22914			AJ001687	CCDS8623.1	12p13.2-p12.3	2010-02-17	2003-02-19		ENSG00000213809	ENSG00000213809		"""Killer cell lectin-like receptors"", ""CD molecules"""	18788	protein-coding gene	gene with protein product		611817	"""DNA segment on chromosome 12 (unique) 2489 expressed sequence"""	D12S2489E		9683661, 2007850	Standard	NM_007360		Approved	NKG2D, KLR, NKG2-D, CD314	uc009zhj.3	P26718	OTTHUMG00000168574	ENST00000240618.6:c.164T>C	12.37:g.10532376A>G	ENSP00000240618:p.Phe55Ser		10423643	A8K7K5|A8K7P4|Q9NR41	Missense_Mutation	SNP	ENST00000240618.6	37	CCDS8623.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079598	0.55753	.	.	ENSG00000213809	ENST00000240618;ENST00000540818	T;T	0.01379	4.96;4.96	5.64	4.49	0.54785	.	1.007090	0.07995	N	0.987835	T	0.01976	0.0062	L	0.40543	1.245	0.09310	N	1	B;P;P	0.38335	0.119;0.468;0.627	B;B;B	0.35607	0.069;0.206;0.096	T	0.51371	-0.8714	10	0.72032	D	0.01	.	8.4475	0.32852	0.9114:0.0:0.0886:0.0	.	55;36;55	Q8WZ67;Q1HEA1;P26718	.;.;NKG2D_HUMAN	S	55	ENSP00000240618:F55S;ENSP00000446003:F55S	ENSP00000240618:F55S	F	-	2	0	KLRK1	10423643	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.573000	0.23699	0.968000	0.38212	0.528000	0.53228	TTC		0.338	KLRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400269.1	NM_007360	
PLCZ1	89869	hgsc.bcm.edu	37	12	18836249	18836249	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr12:18836249C>A	ENST00000538330.1	-	11	1478	c.1097G>T	c.(1096-1098)cGt>cTt	p.R366L	PLCZ1_ENST00000435379.1_Missense_Mutation_p.R389L|PLCZ1_ENST00000447925.2_Missense_Mutation_p.R582L|PLCZ1_ENST00000266505.7_Missense_Mutation_p.R584L|PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000534932.1_Missense_Mutation_p.R65L|PLCZ1_ENST00000539875.1_Missense_Mutation_p.R391L					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CAGAGGAATACGACGATAACC	0.378																																																	0			12											111.0	101.0	105.0					12																	18836249		2203	4300	6503	18727516	SO:0001583	missense	89869			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.1097G>T	12.37:g.18836249C>A	ENSP00000445880:p.Arg366Leu		18727516		Missense_Mutation	SNP	ENST00000538330.1	37		.	.	.	.	.	.	.	.	.	.	C	11.49	1.653803	0.29425	.	.	ENSG00000139151	ENST00000534932;ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875	T;T;T;T;T;T	0.12879	2.64;2.64;2.64;2.64;2.64;2.64	5.34	2.43	0.29744	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.308722	0.33515	N	0.004826	T	0.08403	0.0209	L	0.40543	1.245	0.32695	N	0.513698	B;P	0.40794	0.304;0.729	B;B	0.31290	0.069;0.127	T	0.18587	-1.0332	10	0.87932	D	0	.	5.0721	0.14611	0.0:0.6269:0.1849:0.1882	.	584;366	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	L	65;366;584;582;389;391	ENSP00000438826:R65L;ENSP00000445880:R366L;ENSP00000266505:R584L;ENSP00000402358:R582L;ENSP00000400504:R389L;ENSP00000445026:R391L	ENSP00000266505:R584L	R	-	2	0	PLCZ1	18727516	0.074000	0.21230	0.948000	0.38648	0.367000	0.29736	0.376000	0.20535	0.828000	0.34709	-0.140000	0.14226	CGT		0.378	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123	
KRAS	3845	hgsc.bcm.edu	37	12	25362804	25362804	+	3'UTR	SNP	T	T	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr12:25362804T>A	ENST00000256078.4	-	0	679				KRAS_ENST00000557334.1_Silent_p.R51R|KRAS_ENST00000311936.3_Silent_p.R164R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog						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)		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)			CTTTATGTTTTCGAATTTCTC	0.289		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"""	0			12											63.0	61.0	62.0					12																	25362804		2201	4289	6490	25254071	SO:0001624	3_prime_UTR_variant	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.*46A>T	12.37:g.25362804T>A			25254071	A8K8Z5|B0LPF9|P01118|Q96D10	Silent	SNP	ENST00000256078.4	37	CCDS8703.1																																																																																				0.289	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
KRAS	3845	hgsc.bcm.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	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.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(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)			GCCTACGCCACCAGCTCCAAC	0.348	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"""	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|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											91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	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.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp		25289551	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
OR6C75	390323	hgsc.bcm.edu	37	12	55759698	55759698	+	Missense_Mutation	SNP	A	A	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr12:55759698A>T	ENST00000343399.3	+	1	804	c.804A>T	c.(802-804)ttA>ttT	p.L268F		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GGGTGACTTTAAGCAAAGGAG	0.433																																																	0			12											91.0	79.0	83.0					12																	55759698		2203	4300	6503	54045965	SO:0001583	missense	390323				CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.804A>T	12.37:g.55759698A>T	ENSP00000368987:p.Leu268Phe		54045965		Missense_Mutation	SNP	ENST00000343399.3	37	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	a	13.43	2.234221	0.39498	.	.	ENSG00000187857	ENST00000343399	T	0.00237	8.47	5.22	0.244	0.15507	GPCR, rhodopsin-like superfamily (1);	0.196773	0.24745	N	0.035941	T	0.00271	0.0008	L	0.41632	1.29	0.09310	N	1	D	0.60575	0.988	D	0.67548	0.952	T	0.53927	-0.8369	10	0.27785	T	0.31	.	6.0294	0.19671	0.418:0.3425:0.2394:0.0	.	268	A6NL08	O6C75_HUMAN	F	268	ENSP00000368987:L268F	ENSP00000368987:L268F	L	+	3	2	OR6C75	54045965	0.000000	0.05858	0.798000	0.32154	0.956000	0.61745	-0.545000	0.06069	-0.097000	0.12307	-1.686000	0.00732	TTA		0.433	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1		
XPOT	11260	hgsc.bcm.edu	37	12	64827255	64827255	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr12:64827255T>C	ENST00000332707.5	+	19	2853	c.2324T>C	c.(2323-2325)gTg>gCg	p.V775A		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	775	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		ATTTTTGAAGTGCTGCTCCGG	0.428																																																	0			12											133.0	131.0	132.0					12																	64827255		2203	4300	6503	63113522	SO:0001583	missense	11260			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2324T>C	12.37:g.64827255T>C	ENSP00000327821:p.Val775Ala		63113522	A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	T	9.444	1.088905	0.20390	.	.	ENSG00000184575	ENST00000332707	T	0.31247	1.5	4.99	4.99	0.66335	Armadillo-type fold (1);	0.059852	0.64402	D	0.000003	T	0.15219	0.0367	N	0.04203	-0.255	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09840	-1.0656	9	.	.	.	.	14.9893	0.71374	0.0:0.0:0.0:1.0	.	775	O43592	XPOT_HUMAN	A	775	ENSP00000327821:V775A	.	V	+	2	0	XPOT	63113522	1.000000	0.71417	0.991000	0.47740	0.096000	0.18686	7.873000	0.87193	2.004000	0.58718	0.528000	0.53228	GTG		0.428	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235	
TMTC2	160335	hgsc.bcm.edu	37	12	83379735	83379735	+	Silent	SNP	C	C	T	rs148211417		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr12:83379735C>T	ENST00000321196.3	+	8	2687	c.1980C>T	c.(1978-1980)ccC>ccT	p.P660P	TMTC2_ENST00000549919.1_Silent_p.P654P	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	660					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GCAAACTCCCCGAAGCAGAGC	0.443																																																	0			12											191.0	173.0	179.0					12																	83379735		2203	4300	6503	81903866	SO:0001819	synonymous_variant	160335			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1980C>T	12.37:g.83379735C>T			81903866	B2RCU7|Q8N2K8	Silent	SNP	ENST00000321196.3	37	CCDS9025.1																																																																																				0.443	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588	
LRRIQ1	84125	hgsc.bcm.edu	37	12	85438525	85438525	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr12:85438525C>A	ENST00000393217.2	+	4	335	c.274C>A	c.(274-276)Cat>Aat	p.H92N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	92										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTCTAATAATCATATGCATTT	0.269																																																	0			12											57.0	62.0	60.0					12																	85438525		2192	4250	6442	83962656	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.274C>A	12.37:g.85438525C>A	ENSP00000376910:p.His92Asn		83962656	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	1.816	-0.473399	0.04445	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393212;ENST00000393217	T;T	0.52057	1.5;0.68	4.79	2.96	0.34315	.	0.287844	0.24737	N	0.036005	T	0.39572	0.1083	L	0.53249	1.67	0.20489	N	0.999895	B;B	0.21688	0.041;0.059	B;B	0.24155	0.051;0.05	T	0.30736	-0.9968	10	0.41790	T	0.15	.	6.8087	0.23792	0.0:0.7274:0.1772:0.0953	.	92;92	Q96JM4;C9JI57	LRIQ1_HUMAN;.	N	92	ENSP00000376906:H92N;ENSP00000376910:H92N	ENSP00000256007:H92N	H	+	1	0	LRRIQ1	83962656	0.867000	0.29959	0.468000	0.27192	0.021000	0.10359	0.849000	0.27723	0.729000	0.32403	-0.384000	0.06662	CAT		0.269	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
LRRIQ1	84125	hgsc.bcm.edu	37	12	85521777	85521777	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr12:85521777G>A	ENST00000393217.2	+	18	4236	c.4175G>A	c.(4174-4176)cGa>cAa	p.R1392Q		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1392										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GTGAATATCCGAAAACAGAGG	0.328																																																	0			12											111.0	112.0	112.0					12																	85521777		1817	4085	5902	84045908	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4175G>A	12.37:g.85521777G>A	ENSP00000376910:p.Arg1392Gln		84045908	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.463437	0.01062	.	.	ENSG00000133640	ENST00000393217	T	0.50277	0.75	5.21	2.8	0.32819	.	.	.	.	.	T	0.18257	0.0438	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30937	-0.9961	9	0.02654	T	1	.	0.6727	0.00861	0.4515:0.1361:0.1501:0.2623	.	1392	Q96JM4	LRIQ1_HUMAN	Q	1392	ENSP00000376910:R1392Q	ENSP00000376910:R1392Q	R	+	2	0	LRRIQ1	84045908	0.006000	0.16342	0.970000	0.41538	0.385000	0.30292	0.500000	0.22562	0.361000	0.24292	-0.383000	0.06682	CGA		0.328	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
CEP290	80184	hgsc.bcm.edu	37	12	88474160	88474160	+	Silent	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr12:88474160G>A	ENST00000552810.1	-	38	5368	c.5025C>T	c.(5023-5025)aaC>aaT	p.N1675N	CEP290_ENST00000397838.3_Silent_p.N735N|CEP290_ENST00000547691.2_Silent_p.N735N|CEP290_ENST00000309041.7_Silent_p.N1677N	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1675					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.N1677N(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CATCTTCATGGTTTTCTTGAA	0.363																																																	1	Substitution - coding silent(1)	breast(1)	12											111.0	99.0	102.0					12																	88474160		1818	4077	5895	86998291	SO:0001819	synonymous_variant	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.5025C>T	12.37:g.88474160G>A			86998291	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Silent	SNP	ENST00000552810.1	37	CCDS55858.1																																																																																				0.363	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
OAS2	4939	hgsc.bcm.edu	37	12	113442751	113442751	+	Missense_Mutation	SNP	G	G	A	rs143746502		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr12:113442751G>A	ENST00000342315.4	+	7	1406	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.A398T	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	398	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGGATCAACCGCCAAAGGCAC	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		19896	0.001		0.0	False		,,,				2504	0.0				Pancreas(199;709 2232 18410 33584 35052)												0			12											62.0	62.0	62.0					12																	113442751		2203	4300	6503	111927134	SO:0001583	missense	4939			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1192G>A	12.37:g.113442751G>A	ENSP00000342278:p.Ala398Thr		111927134	A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	CCDS31906.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	13.86	2.364157	0.41902	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.10099	2.91;2.91	4.17	3.27	0.37495	2-5-oligoadenylate synthetase, N-terminal (1);Nucleotidyl transferase domain (1);2-5-oligoadenylate synthetase, conserved site (1);	0.768093	0.10875	N	0.624472	T	0.26666	0.0652	M	0.72894	2.215	0.24669	N	0.993428	D;D	0.76494	0.999;0.999	P;P	0.61477	0.889;0.823	T	0.06338	-1.0832	10	0.72032	D	0.01	-3.8504	7.9747	0.30149	0.1147:0.0:0.8853:0.0	.	398;398	P29728;P29728-2	OAS2_HUMAN;.	T	398	ENSP00000342278:A398T;ENSP00000376362:A398T	ENSP00000342278:A398T	A	+	1	0	OAS2	111927134	0.898000	0.30612	0.137000	0.22149	0.045000	0.14185	2.538000	0.45710	1.106000	0.41623	0.591000	0.81541	GCC		0.517	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1		
KSR2	283455	hgsc.bcm.edu	37	12	117923480	117923480	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr12:117923480T>C	ENST00000339824.5	-	15	2963	c.2236A>G	c.(2236-2238)Acg>Gcg	p.T746A	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.T717A			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	746	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAATAGAGCGTCCGTCCCTTA	0.448																																																	0			12											105.0	98.0	100.0					12																	117923480		1916	4134	6050	116407863	SO:0001583	missense	283455			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2236A>G	12.37:g.117923480T>C	ENSP00000339952:p.Thr746Ala		116407863	A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37		.	.	.	.	.	.	.	.	.	.	T	14.81	2.645720	0.47258	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	D;D	0.89552	-2.53;-2.53	5.75	5.75	0.90469	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87888	0.6291	M	0.71871	2.18	0.58432	D	0.999999	B	0.21606	0.058	B	0.24541	0.054	D	0.85360	0.1107	10	0.62326	D	0.03	.	11.1531	0.48471	0.0:0.0712:0.0:0.9288	.	746	Q6VAB6	KSR2_HUMAN	A	717;746	ENSP00000389715:T717A;ENSP00000339952:T746A	ENSP00000339952:T746A	T	-	1	0	KSR2	116407863	1.000000	0.71417	0.998000	0.56505	0.601000	0.36947	6.236000	0.72339	2.194000	0.70268	0.533000	0.62120	ACG		0.448	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598	
RIMBP2	23504	hgsc.bcm.edu	37	12	130884319	130884319	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr12:130884319A>G	ENST00000261655.4	-	18	3200	c.3037T>C	c.(3037-3039)Ttc>Ctc	p.F1013L		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	1013	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCTTCCAAGAAGTTTGAGGGC	0.463																																																	0			12											114.0	103.0	106.0					12																	130884319		2203	4300	6503	129450272	SO:0001583	missense	23504			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.3037T>C	12.37:g.130884319A>G	ENSP00000261655:p.Phe1013Leu		129450272	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.005962	0.93287	.	.	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.54479	0.57;0.57	5.32	5.32	0.75619	Src homology-3 domain (4);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	L	0.52573	1.65	0.80722	D	1	D	0.65815	0.995	D	0.80764	0.994	T	0.65253	-0.6213	10	0.38643	T	0.18	-33.4778	15.3201	0.74115	1.0:0.0:0.0:0.0	.	1013	O15034	RIMB2_HUMAN	L	1013;150	ENSP00000261655:F1013L;ENSP00000439030:F150L	ENSP00000261655:F1013L	F	-	1	0	RIMBP2	129450272	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.898000	0.92538	2.028000	0.59812	0.392000	0.25879	TTC		0.463	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
GALNT9	50614	hgsc.bcm.edu	37	12	132685760	132685760	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr12:132685760C>T	ENST00000328957.8	-	8	1309	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	GALNT9_ENST00000541995.1_Missense_Mutation_p.R71H|GALNT9_ENST00000535228.1_Missense_Mutation_p.R188H|GALNT9_ENST00000397325.2_Missense_Mutation_p.R71H	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	437					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CAGCCTCTGACGCAGGGCCAG	0.587																																					Colon(186;2147 2752 13553 41466)												0			12											59.0	73.0	68.0					12																	132685760		2126	4226	6352	131251713	SO:0001583	missense	50614			AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1310G>A	12.37:g.132685760C>T	ENSP00000329846:p.Arg437His		131251713	Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	ENST00000328957.8	37		.	.	.	.	.	.	.	.	.	.	c	32	5.150128	0.94645	.	.	ENSG00000182870	ENST00000397325;ENST00000328957;ENST00000535228;ENST00000541995;ENST00000538356	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	D	0.83566	0.5282	H	0.96142	3.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.89833	0.3997	10	0.87932	D	0	.	16.9295	0.86186	0.0:1.0:0.0:0.0	.	188;437;294	B3KNR7;Q9HCQ5;B3KP58	.;GALT9_HUMAN;.	H	71;437;188;71;71	ENSP00000380488:R71H;ENSP00000329846:R437H;ENSP00000439745:R188H;ENSP00000440544:R71H;ENSP00000444709:R71H	ENSP00000329846:R437H	R	-	2	0	GALNT9	131251713	1.000000	0.71417	0.975000	0.42487	0.981000	0.71138	7.571000	0.82399	1.967000	0.57214	0.462000	0.41574	CGT		0.587	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	NM_001122636	
CHRM5	1133	hgsc.bcm.edu	37	15	34356328	34356328	+	Silent	SNP	G	G	A	rs547672974		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr15:34356328G>A	ENST00000383263.5	+	3	2080	c.1410G>A	c.(1408-1410)aaG>aaA	p.K470K	CHRM5_ENST00000557872.1_Silent_p.K470K	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	470					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TCTGTGACAAGTGTGTCCCAG	0.512																																																	0			15											189.0	165.0	173.0					15																	34356328		2201	4298	6499	32143620	SO:0001819	synonymous_variant	1133				CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.1410G>A	15.37:g.34356328G>A			32143620	Q96RG7	Silent	SNP	ENST00000383263.5	37	CCDS10031.1																																																																																				0.512	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2		
MFAP1	4236	hgsc.bcm.edu	37	15	44097661	44097661	+	Silent	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr15:44097661A>G	ENST00000267812.3	-	8	1282	c.1050T>C	c.(1048-1050)gaT>gaC	p.D350D		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	350					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CTTCATCCTCATCCTGTATAA	0.353																																																	0			15											97.0	95.0	96.0					15																	44097661		2198	4298	6496	41884953	SO:0001819	synonymous_variant	4236				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.1050T>C	15.37:g.44097661A>G			41884953	Q86TG6	Silent	SNP	ENST00000267812.3	37	CCDS10105.1																																																																																				0.353	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926	
PEAK1	79834	hgsc.bcm.edu	37	15	77425989	77425989	+	Silent	SNP	G	G	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr15:77425989G>T	ENST00000560626.2	-	6	3910	c.3435C>A	c.(3433-3435)ccC>ccA	p.P1145P	PEAK1_ENST00000312493.4_Silent_p.P1145P			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1145			P -> L (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGGAAGCATTGGGTGCTTCTT	0.512																																																	0			15											115.0	108.0	110.0					15																	77425989		1970	4143	6113	75213044	SO:0001819	synonymous_variant	0				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3435C>A	15.37:g.77425989G>T			75213044	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	ENST00000560626.2	37	CCDS42062.1																																																																																				0.512	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3		
FSD2	123722	hgsc.bcm.edu	37	15	83455685	83455685	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr15:83455685G>A	ENST00000334574.8	-	2	639	c.458C>T	c.(457-459)aCa>aTa	p.T153I	FSD2_ENST00000541889.1_Missense_Mutation_p.T153I			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	153										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						ACGGCCGTGTGTGTACCTATA	0.577																																																	0			15											71.0	75.0	74.0					15																	83455685		2070	4210	6280	81252739	SO:0001583	missense	123722			AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.458C>T	15.37:g.83455685G>A	ENSP00000335651:p.Thr153Ile		81252739	B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.313378	0.23908	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.46063	0.88;0.88	5.27	1.17	0.20885	.	1.190140	0.05920	N	0.633266	T	0.37679	0.1012	L	0.51422	1.61	0.09310	N	1	B;B	0.28713	0.22;0.138	B;B	0.27380	0.058;0.079	T	0.34079	-0.9843	10	0.49607	T	0.09	-0.1755	7.2875	0.26348	0.1459:0.2614:0.5927:0.0	.	153;153	B7ZM02;A1L4K1	.;FSD2_HUMAN	I	153	ENSP00000335651:T153I;ENSP00000444078:T153I	ENSP00000335651:T153I	T	-	2	0	FSD2	81252739	0.015000	0.18098	0.000000	0.03702	0.287000	0.27160	1.047000	0.30367	0.202000	0.20498	0.655000	0.94253	ACA		0.577	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122	
BTBD1	53339	hgsc.bcm.edu	37	15	83718827	83718827	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr15:83718827A>G	ENST00000261721.4	-	3	864	c.662T>C	c.(661-663)aTa>aCa	p.I221T	RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.I221T	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	221					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GAACTTACCTATATCAATATC	0.358																																																	0			15											122.0	113.0	116.0					15																	83718827		2202	4299	6501	81509831	SO:0001583	missense	53339			AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.662T>C	15.37:g.83718827A>G	ENSP00000261721:p.Ile221Thr		81509831	A6NMI8|Q9BX71|Q9NWN4	Missense_Mutation	SNP	ENST00000261721.4	37	CCDS10322.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.074558	0.55646	.	.	ENSG00000064726	ENST00000261721;ENST00000379403	T;T	0.68624	-0.34;-0.34	5.51	4.35	0.52113	BTB/Kelch-associated (2);	0.100357	0.64402	D	0.000002	T	0.58652	0.2137	L	0.29908	0.895	0.47584	D	0.999462	P;B	0.36633	0.562;0.452	B;B	0.41135	0.348;0.266	T	0.58994	-0.7537	10	0.49607	T	0.09	-27.3197	12.6224	0.56610	0.8614:0.1386:0.0:0.0	.	221;221	A6NMI8;Q9H0C5	.;BTBD1_HUMAN	T	221	ENSP00000261721:I221T;ENSP00000368713:I221T	ENSP00000261721:I221T	I	-	2	0	BTBD1	81509831	1.000000	0.71417	0.942000	0.38095	0.993000	0.82548	5.856000	0.69518	0.970000	0.38263	0.533000	0.62120	ATA		0.358	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1		
ADAMTSL3	57188	hgsc.bcm.edu	37	15	84659942	84659942	+	Missense_Mutation	SNP	G	G	A	rs77086705		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr15:84659942G>A	ENST00000286744.5	+	23	4173	c.3949G>A	c.(3949-3951)Gtg>Atg	p.V1317M	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V1317M|AC027807.1_ENST00000408557.1_RNA	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1317	Ig-like C2-type 3.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V1317M(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGAGCAAACGTGACAATCCG	0.498																																																	1	Substitution - Missense(1)	lung(1)	15						G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	243.0	220.0	228.0		3949	1.9	0.6	15	dbSNP_131	228	0,8598		0,0,4299	no	missense	ADAMTSL3	NM_207517.2	21	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	1317/1692	84659942	1,13003	2203	4299	6502	82450946	SO:0001583	missense	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3949G>A	15.37:g.84659942G>A	ENSP00000286744:p.Val1317Met		82450946	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.363487	0.24684	2.27E-4	0.0	ENSG00000156218	ENST00000286744	T	0.37235	1.21	5.21	1.94	0.25998	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32802	N	0.005634	T	0.34687	0.0906	M	0.66939	2.045	0.32056	N	0.596305	B;B	0.25235	0.121;0.101	B;B	0.30401	0.115;0.05	T	0.42241	-0.9463	10	0.62326	D	0.03	.	6.7034	0.23236	0.4378:0.0:0.5622:0.0	.	1317;1317	P82987-2;P82987	.;ATL3_HUMAN	M	1317	ENSP00000286744:V1317M	ENSP00000286744:V1317M	V	+	1	0	ADAMTSL3	82450946	0.481000	0.25941	0.592000	0.28758	0.653000	0.38743	0.495000	0.22483	0.599000	0.29845	-0.995000	0.02519	GTG		0.498	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	
DET1	55070	hgsc.bcm.edu	37	15	89070831	89070831	+	Splice_Site	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr15:89070831G>A	ENST00000268148.8	-	3	1415	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W	DET1_ENST00000444300.1_Splice_Site_p.R435W|DET1_ENST00000564406.1_Splice_Site_p.R435W	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	424						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			ACAGCTTACCGGCGCTGGATC	0.448																																																	0			15											65.0	62.0	63.0					15																	89070831		1870	4108	5978	86871835	SO:0001630	splice_region_variant	55070			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1271+1C>T	15.37:g.89070831G>A			86871835	B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798334	0.70567	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.7	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.79953	0.4535	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.83273	-0.0042	9	0.87932	D	0	-20.376	15.1781	0.72931	0.0:0.0:0.858:0.142	.	424;435	Q7L5Y6;B3KNN6	DET1_HUMAN;.	W	435;424	.	ENSP00000268148:R424W	R	-	1	2	DET1	86871835	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.652000	0.67959	1.394000	0.46624	0.655000	0.94253	CGG		0.448	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996	Missense_Mutation
IDH2	3418	hgsc.bcm.edu	37	15	90631880	90631880	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr15:90631880G>T	ENST00000330062.3	-	4	586	c.473C>A	c.(472-474)cCa>cAa	p.P158Q	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.P106Q|IDH2_ENST00000539790.1_Missense_Mutation_p.P28Q	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	158					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GACTAGGCGTGGGATGTTTTT	0.587			M		GBM																																			Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	0			15											115.0	111.0	112.0					15																	90631880		2200	4298	6498	88432884	SO:0001583	missense	3418				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.473C>A	15.37:g.90631880G>T	ENSP00000331897:p.Pro158Gln		88432884	B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426768	0.62733	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.68903	-0.36;-0.36;-0.36	5.93	5.01	0.66863	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.80869	0.4706	M	0.93594	3.435	0.58432	D	0.999999	D	0.56746	0.977	P	0.50659	0.647	D	0.86313	0.1687	10	0.87932	D	0	.	14.2254	0.65855	0.0:0.0:0.8496:0.1504	.	158	P48735	IDHP_HUMAN	Q	158;28;106	ENSP00000331897:P158Q;ENSP00000438457:P28Q;ENSP00000446147:P106Q	ENSP00000331897:P158Q	P	-	2	0	IDH2	88432884	1.000000	0.71417	0.899000	0.35326	0.249000	0.25844	9.842000	0.99487	1.494000	0.48533	0.561000	0.74099	CCA		0.587	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1		
MCTP2	55784	hgsc.bcm.edu	37	15	95020006	95020006	+	Missense_Mutation	SNP	C	C	A	rs372254409		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr15:95020006C>A	ENST00000357742.4	+	21	2552	c.2552C>A	c.(2551-2553)cCg>cAg	p.P851Q	MCTP2_ENST00000449432.3_3'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.P796Q	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	851					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCTAGGGTACCGTCTGATGTT	0.438																																																	0			15											101.0	103.0	103.0					15																	95020006		2197	4298	6495	92821010	SO:0001583	missense	55784			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2552C>A	15.37:g.95020006C>A	ENSP00000350377:p.Pro851Gln		92821010	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562474	0.65538	.	.	ENSG00000140563	ENST00000451018;ENST00000357742	D;D	0.94537	-3.27;-3.45	5.77	5.77	0.91146	Phosphoribosyltransferase C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97914	0.9314	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98310	1.0523	10	0.87932	D	0	.	19.9944	0.97379	0.0:1.0:0.0:0.0	.	796;851	Q6DN12-2;Q6DN12	.;MCTP2_HUMAN	Q	796;851	ENSP00000395109:P796Q;ENSP00000350377:P851Q	ENSP00000350377:P851Q	P	+	2	0	MCTP2	92821010	1.000000	0.71417	0.250000	0.24296	0.750000	0.42670	7.818000	0.86416	2.720000	0.93068	0.557000	0.71058	CCG		0.438	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	
MXRA5	25878	hgsc.bcm.edu	37	X	3241266	3241266	+	Silent	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chrX:3241266A>G	ENST00000217939.6	-	5	2614	c.2460T>C	c.(2458-2460)ccT>ccC	p.P820P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	820						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TAGCAGGAAAAGGTGGTGTGA	0.488																																																	0			X											141.0	139.0	140.0					X																	3241266		2203	4300	6503	3251266	SO:0001819	synonymous_variant	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2460T>C	X.37:g.3241266A>G			3251266	Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	CCDS14124.1																																																																																				0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
PCYT1B	9468	hgsc.bcm.edu	37	X	24608202	24608202	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chrX:24608202C>T	ENST00000379144.2	-	4	554	c.424G>A	c.(424-426)Gta>Ata	p.V142I	PCYT1B_ENST00000356768.4_Missense_Mutation_p.V142I|PCYT1B_ENST00000379145.1_Missense_Mutation_p.V124I	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	142					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	ACTTCGTCTACGTAGCGACAG	0.453																																																	0			X											173.0	132.0	146.0					X																	24608202		2203	4300	6503	24518123	SO:0001583	missense	9468			AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.424G>A	X.37:g.24608202C>T	ENSP00000368439:p.Val142Ile		24518123	A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	ENST00000379144.2	37	CCDS14213.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774288	0.90108	.	.	ENSG00000102230	ENST00000379145;ENST00000379144;ENST00000356768	D;D;D	0.97089	-4.24;-4.24;-4.24	5.44	5.44	0.79542	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.000000	0.85682	D	0.000000	D	0.98403	0.9469	M	0.87269	2.87	0.80722	D	1	D;D;D	0.76494	0.996;0.996;0.999	P;P;P	0.60949	0.7;0.881;0.881	D	0.99316	1.0905	10	0.72032	D	0.01	-26.3929	18.3331	0.90277	0.0:1.0:0.0:0.0	.	142;124;142	Q9Y5K3-2;E9PD84;Q9Y5K3	.;.;PCY1B_HUMAN	I	124;142;142	ENSP00000368440:V124I;ENSP00000368439:V142I;ENSP00000349211:V142I	ENSP00000349211:V142I	V	-	1	0	PCYT1B	24518123	1.000000	0.71417	0.998000	0.56505	0.738000	0.42128	7.320000	0.79064	2.524000	0.85096	0.600000	0.82982	GTA		0.453	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845	
MAGEB2	4113	hgsc.bcm.edu	37	X	30236765	30236765	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chrX:30236765G>A	ENST00000378988.4	+	2	169	c.68G>A	c.(67-69)cGg>cAg	p.R23Q		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	23										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GATGAGACCCGGGGTCTCAAT	0.567																																																	0			X											37.0	35.0	36.0					X																	30236765		2202	4300	6502	30146686	SO:0001583	missense	4113			AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.68G>A	X.37:g.30236765G>A	ENSP00000368273:p.Arg23Gln		30146686	O75860	Missense_Mutation	SNP	ENST00000378988.4	37	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	A	0.186	-1.057326	0.01965	.	.	ENSG00000099399	ENST00000378988	T	0.02974	4.09	3.43	0.959	0.19624	Melanoma associated antigen, MAGE, N-terminal (1);	0.653207	0.14428	N	0.320189	T	0.00468	0.0015	N	0.00036	-2.535	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43766	-0.9371	10	0.02654	T	1	.	3.0051	0.06026	0.5076:0.2281:0.2643:0.0	.	23	O15479	MAGB2_HUMAN	Q	23	ENSP00000368273:R23Q	ENSP00000368273:R23Q	R	+	2	0	MAGEB2	30146686	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.065000	0.11617	-0.166000	0.10890	-1.641000	0.00772	CGG		0.567	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364	
RBM10	8241	hgsc.bcm.edu	37	X	47040620	47040620	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chrX:47040620C>T	ENST00000377604.3	+	13	1997	c.1255C>T	c.(1255-1257)Caa>Taa	p.Q419*	RBM10_ENST00000329236.7_Nonsense_Mutation_p.Q341*|RBM10_ENST00000478410.1_3'UTR|RBM10_ENST00000345781.6_Nonsense_Mutation_p.Q342*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	419					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TCAGGCCTCCCAAGGTGGGGA	0.632																																					Melanoma(171;120 2705 19495 39241)												0			X											13.0	9.0	11.0					X																	47040620		2128	4155	6283	46925564	SO:0001587	stop_gained	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1255C>T	X.37:g.47040620C>T	ENSP00000366829:p.Gln419*		46925564	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Nonsense_Mutation	SNP	ENST00000377604.3	37	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	C	39	7.805038	0.98498	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	.	.	.	4.46	4.46	0.54185	.	0.532223	0.19082	N	0.123208	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-19.703	11.6041	0.51022	0.0:1.0:0.0:0.0	.	.	.	.	X	419;341;342	.	ENSP00000328848:Q341X	Q	+	1	0	RBM10	46925564	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.122000	0.57910	2.219000	0.72066	0.597000	0.82753	CAA		0.632	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676	
ZNF182	7569	hgsc.bcm.edu	37	X	47836341	47836341	+	Missense_Mutation	SNP	G	G	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chrX:47836341G>C	ENST00000396965.1	-	7	1495	c.1145C>G	c.(1144-1146)aCt>aGt	p.T382S	ZNF182_ENST00000376943.3_Missense_Mutation_p.T363S|ZNF182_ENST00000305127.6_Missense_Mutation_p.T382S	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	382					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)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						ATCACTGAAAGTTTTCTTACA	0.358																																																	0			X											113.0	108.0	109.0					X																	47836341		2203	4300	6503	47721285	SO:0001583	missense	7988			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.1145C>G	X.37:g.47836341G>C	ENSP00000380165:p.Thr382Ser		47721285	A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	G	9.450	1.090366	0.20471	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.00801	5.68;5.68;5.68	4.31	4.31	0.51392	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00967	0.0032	N	0.01631	-0.79	0.23192	N	0.99814	D;B;P	0.56035	0.974;0.115;0.889	P;B;P	0.57548	0.823;0.173;0.581	T	0.64892	-0.6300	9	0.40728	T	0.16	.	9.446	0.38697	0.0:0.2119:0.7881:0.0	.	362;363;382	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	S	363;382;382	ENSP00000366142:T363S;ENSP00000380165:T382S;ENSP00000306351:T382S	ENSP00000306351:T382S	T	-	2	0	ZNF182	47721285	0.001000	0.12720	0.985000	0.45067	0.923000	0.55619	1.099000	0.31013	2.128000	0.65567	0.422000	0.28245	ACT		0.358	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962	
FOXO4	4303	hgsc.bcm.edu	37	X	70320926	70320926	+	Silent	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chrX:70320926G>A	ENST00000374259.3	+	2	1178	c.846G>A	c.(844-846)gcG>gcA	p.A282A	FOXO4_ENST00000341558.3_Silent_p.A227A	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	282					cell cycle arrest (GO:0007050)|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)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					AGGTGCTGGCGGAGGAAATAC	0.567											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			X											42.0	45.0	44.0					X																	70320926		2101	4204	6305	70237651	SO:0001819	synonymous_variant	4303				CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.846G>A	X.37:g.70320926G>A		1121	70237651	B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Silent	SNP	ENST00000374259.3	37	CCDS43969.1																																																																																				0.567	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938	
OGT	8473	hgsc.bcm.edu	37	X	70757811	70757811	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chrX:70757811T>C	ENST00000373719.3	+	3	568	c.351T>C	c.(349-351)cgT>cgC	p.R117R	OGT_ENST00000373701.3_Silent_p.R107R|OGT_ENST00000498566.1_3'UTR	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	117					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ATGCATTGCGTCTCAAACCTG	0.493																																																	0			X											159.0	127.0	138.0					X																	70757811		2203	4300	6503	70674536	SO:0001819	synonymous_variant	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.351T>C	X.37:g.70757811T>C			70674536	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Silent	SNP	ENST00000373719.3	37	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	t	10.71	1.425947	0.25726	.	.	ENSG00000147162	ENST00000455587	.	.	.	4.86	1.11	0.20524	.	.	.	.	.	T	0.46054	0.1373	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25222	-1.0138	4	.	.	.	-19.0221	4.1695	0.10322	0.0:0.3196:0.4266:0.2538	.	.	.	.	A	77	.	.	V	+	2	0	OGT	70674536	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.411000	0.21115	0.213000	0.20722	0.427000	0.28365	GTC		0.493	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672	
TCEAL8	90843	hgsc.bcm.edu	37	X	102508779	102508779	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chrX:102508779G>T	ENST00000372685.3	-	3	365	c.129C>A	c.(127-129)agC>agA	p.S43R	TCEAL8_ENST00000360000.4_Missense_Mutation_p.S43R	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN	transcription elongation factor A (SII)-like 8	43					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S43S(1)		kidney(2)|lung(1)|ovary(1)	4						CTGCTTCCTGGCTTACGCCTT	0.522																																																	1	Substitution - coding silent(1)	ovary(1)	X											156.0	136.0	143.0					X																	102508779		2203	4300	6503	102395435	SO:0001583	missense	90843			AL833632	CCDS14504.1	Xq22.1	2014-03-21			ENSG00000180964	ENSG00000180964			28683	protein-coding gene	gene with protein product						16221301	Standard	NM_001006684		Approved	MGC45400, WEX3	uc004ejy.3	Q8IYN2	OTTHUMG00000022094	ENST00000372685.3:c.129C>A	X.37:g.102508779G>T	ENSP00000361770:p.Ser43Arg		102395435		Missense_Mutation	SNP	ENST00000372685.3	37	CCDS14504.1	.	.	.	.	.	.	.	.	.	.	G	5.684	0.310732	0.10733	.	.	ENSG00000180964	ENST00000360000;ENST00000372685	T;T	0.09255	3.0;3.0	4.52	1.76	0.24704	.	0.339341	0.25968	N	0.027155	T	0.07818	0.0196	L	0.53249	1.67	0.21290	N	0.999739	B	0.06786	0.001	B	0.08055	0.003	T	0.39333	-0.9619	10	0.13108	T	0.6	-3.1427	2.439	0.04490	0.1077:0.185:0.5127:0.1947	.	43	Q8IYN2	TCAL8_HUMAN	R	43	ENSP00000353093:S43R;ENSP00000361770:S43R	ENSP00000353093:S43R	S	-	3	2	TCEAL8	102395435	0.546000	0.26457	0.785000	0.31869	0.536000	0.34869	-0.012000	0.12699	0.242000	0.21303	0.600000	0.82982	AGC		0.522	TCEAL8-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057698.1	NM_153333	
TBC1D8B	54885	hgsc.bcm.edu	37	X	106108792	106108792	+	Missense_Mutation	SNP	C	C	T	rs372432035		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chrX:106108792C>T	ENST00000357242.5	+	15	2530	c.2356C>T	c.(2356-2358)Cgt>Tgt	p.R786C	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.R780C	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	786							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTAAAGTTGCGTGTTGTATC	0.303																																																	0			X						C	CYS/ARG	1,3830		0,1,1629,571	90.0	82.0	85.0		2356	5.5	1.0	X		85	0,6711		0,0,2424,1863	no	missense	TBC1D8B	NM_017752.2	180	0,1,4053,2434	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging	786/1121	106108792	1,10541	2201	4287	6488	105995448	SO:0001583	missense	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2356C>T	X.37:g.106108792C>T	ENSP00000349781:p.Arg786Cys		105995448	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	CCDS14522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.548861|4.548861	0.86127|0.86127	2.61E-4|2.61E-4	0.0|0.0	ENSG00000133138|ENSG00000133138	ENST00000431860|ENST00000357242;ENST00000276175;ENST00000394972	.|T;T	.|0.33865	.|1.39;1.39	5.49|5.49	5.49|5.49	0.81192|0.81192	.|EF-hand-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64713|0.64713	0.2623|0.2623	M|M	0.84219|0.84219	2.685|2.685	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.70502|0.70502	-0.4854|-0.4854	5|10	.|0.87932	.|D	.|0	-11.5945|-11.5945	16.804|16.804	0.85621|0.85621	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|786	.|Q0IIM8	.|TBC8B_HUMAN	V|C	48|786;780;48	.|ENSP00000349781:R786C;ENSP00000276175:R780C	.|ENSP00000276175:R780C	A|R	+|+	2|1	0|0	TBC1D8B|TBC1D8B	105995448|105995448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	4.081000|4.081000	0.57627|0.57627	2.279000|2.279000	0.76181|0.76181	0.506000|0.506000	0.49869|0.49869	GCG|CGT		0.303	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752	
NCBP2L	392517	hgsc.bcm.edu	37	X	107018441	107018441	+	5'Flank	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chrX:107018441C>T	ENST00000509000.2	+	0	0				TSC22D3_ENST00000506081.1_Missense_Mutation_p.R70Q|TSC22D3_ENST00000514426.1_Missense_Mutation_p.R2Q|TSC22D3_ENST00000372384.2_Missense_Mutation_p.R70Q|TSC22D3_ENST00000372383.4_Missense_Mutation_p.R70Q|TSC22D3_ENST00000315660.4_Missense_Mutation_p.R70Q			A6PVI3	NCB2L_HUMAN	nuclear cap binding protein subunit 2-like						mRNA cis splicing, via spliceosome (GO:0045292)	nuclear cap binding complex (GO:0005846)	nucleotide binding (GO:0000166)|RNA cap binding (GO:0000339)			large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						CGAATCCTGCCGCATTATGCT	0.562																																																	0			X											131.0	100.0	110.0					X																	107018441		2203	4300	6503	106905097	SO:0001631	upstream_gene_variant	1831					Xq22.3	2013-02-12			ENSG00000170935	ENSG00000170935		"""RNA binding motif (RRM) containing"""	31795	protein-coding gene	gene with protein product							Standard	NG_011409		Approved			A6PVI3	OTTHUMG00000022169		X.37:g.107018441C>T	Exception_encountered		106905097		Missense_Mutation	SNP	ENST00000509000.2	37		.	.	.	.	.	.	.	.	.	.	C	34	5.371236	0.95923	.	.	ENSG00000157514	ENST00000315660;ENST00000372383;ENST00000372384;ENST00000506081;ENST00000514426;ENST00000514897;ENST00000480691;ENST00000510887;ENST00000502650;ENST00000506724;ENST00000505965	.	.	.	5.22	5.22	0.72569	.	0.301954	0.38326	N	0.001727	T	0.59074	0.2167	N	0.14661	0.345	0.50313	D	0.999866	D	0.71674	0.998	D	0.72982	0.979	T	0.57985	-0.7716	9	0.25106	T	0.35	-16.8342	15.3861	0.74703	0.0:1.0:0.0:0.0	.	70	Q99576-3	.	Q	70;70;70;70;2;70;70;70;70;70;70	.	ENSP00000314655:R70Q	R	-	2	0	TSC22D3	106905097	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.514000	0.67043	2.313000	0.78055	0.600000	0.82982	CGG		0.562	NCBP2L-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000057850.2	XM_373362	
IL13RA2	3598	hgsc.bcm.edu	37	X	114239799	114239799	+	Silent	SNP	G	G	A	rs191854615		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chrX:114239799G>A	ENST00000371936.1	-	10	1326	c.1077C>T	c.(1075-1077)acC>acT	p.T359T	IL13RA2_ENST00000243213.1_Silent_p.T359T			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	359					cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						AAAGCAGACCGGTTACAAATA	0.358																																																	0			X											73.0	68.0	70.0					X																	114239799		2203	4300	6503	114146055	SO:0001819	synonymous_variant	3598			X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.1077C>T	X.37:g.114239799G>A			114146055	A8K7E2|O00667	Silent	SNP	ENST00000371936.1	37	CCDS14565.1																																																																																				0.358	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057966.1	NM_000640	
STK26	51765	hgsc.bcm.edu	37	X	131202442	131202442	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chrX:131202442G>A	ENST00000354719.6	+	6	658	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	MST4_ENST00000394335.2_Missense_Mutation_p.A71T|MST4_ENST00000496850.1_Missense_Mutation_p.A148T|MST4_ENST00000481105.1_Missense_Mutation_p.A170T|MST4_ENST00000394334.2_Missense_Mutation_p.A148T																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CCTCCTAGCTGCCAATGTCTT	0.368																																																	0			X											61.0	64.0	63.0					X																	131202442		2202	4299	6501	131030123	SO:0001583	missense	51765																														ENST00000354719.6:c.442G>A	X.37:g.131202442G>A	ENSP00000346755:p.Ala148Thr		131030123		Missense_Mutation	SNP	ENST00000354719.6	37		.	.	.	.	.	.	.	.	.	.	G	27.1	4.801157	0.90538	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77	5.74	5.74	0.90152	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000004	T	0.54481	0.1861	M	0.74467	2.265	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	0.998;0.986;0.995;0.974;0.99	T	0.57613	-0.7781	10	0.87932	D	0	.	18.9063	0.92462	0.0:0.0:1.0:0.0	.	170;148;148;71;148	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289-2;Q9P289	.;.;.;.;MST4_HUMAN	T	148;170;148;71;148	ENSP00000377867:A148T;ENSP00000418753:A170T;ENSP00000346755:A148T;ENSP00000377868:A71T;ENSP00000419702:A148T	ENSP00000346755:A148T	A	+	1	0	AL109749.1	131030123	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.413000	0.81919	0.600000	0.82982	GCC		0.368	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2		
ATP11C	286410	hgsc.bcm.edu	37	X	138864756	138864756	+	Missense_Mutation	SNP	A	A	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chrX:138864756A>C	ENST00000327569.3	-	18	2009	c.1911T>G	c.(1909-1911)gaT>gaG	p.D637E	ATP11C_ENST00000361648.2_Missense_Mutation_p.D637E|ATP11C_ENST00000359686.2_Missense_Mutation_p.D637E|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370557.1_Missense_Mutation_p.D634E|ATP11C_ENST00000370543.1_Missense_Mutation_p.D637E	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	637					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|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(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TCTCAATATCATCGAAAACTT	0.333																																																	0			X											129.0	102.0	111.0					X																	138864756		2203	4300	6503	138692422	SO:0001583	missense	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1911T>G	X.37:g.138864756A>C	ENSP00000332756:p.Asp637Glu		138692422	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	CCDS14668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.265|7.265	0.606007|0.606007	0.14002|0.14002	.|.	.|.	ENSG00000101974|ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686|ENST00000422228	T;T;T;T;T|.	0.69306|.	-0.39;-0.39;-0.39;-0.39;-0.39|.	5.68|5.68	5.68|5.68	0.88126|0.88126	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.098435|.	0.64402|.	D|.	0.000002|.	T|T	0.25568|0.25568	0.0622|0.0622	N|N	0.03071|0.03071	-0.42|-0.42	0.36569|0.36569	D|D	0.872866|0.872866	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.14578|.	0.011;0.011|.	T|T	0.37150|0.37150	-0.9718|-0.9718	10|5	0.02654|.	T|.	1|.	.|.	10.5621|10.5621	0.45152|0.45152	0.854:0.0:0.0:0.146|0.854:0.0:0.0:0.146	.|.	637;637|.	Q8NB49-3;Q8NB49|.	.;AT11C_HUMAN|.	E|R	634;637;637;637;637|189	ENSP00000359588:D634E;ENSP00000355165:D637E;ENSP00000332756:D637E;ENSP00000359574:D637E;ENSP00000352715:D637E|.	ENSP00000332756:D637E|.	D|M	-|-	3|2	2|0	ATP11C|ATP11C	138692422|138692422	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.902000|0.902000	0.53008|0.53008	2.910000|2.910000	0.48766|0.48766	1.906000|1.906000	0.55180|0.55180	0.481000|0.481000	0.45027|0.45027	GAT|ATG		0.333	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694	
ATP6AP1	537	hgsc.bcm.edu	37	X	153662732	153662732	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chrX:153662732T>C	ENST00000369762.2	+	7	924	c.863T>C	c.(862-864)cTc>cCc	p.L288P	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	288					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)	p.L288R(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGACTCCCCTCACCTTTGGG	0.582																																																	1	Substitution - Missense(1)	ovary(1)	X											123.0	103.0	110.0					X																	153662732		2203	4300	6503	153315926	SO:0001583	missense	537			D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.863T>C	X.37:g.153662732T>C	ENSP00000358777:p.Leu288Pro		153315926	A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	ENST00000369762.2	37	CCDS35451.1	.	.	.	.	.	.	.	.	.	.	T	13.61	2.289882	0.40494	.	.	ENSG00000071553	ENST00000369762;ENST00000422890;ENST00000445849	.	.	.	5.49	-1.74	0.08056	.	1.228710	0.05262	N	0.515940	T	0.34687	0.0906	L	0.55481	1.735	0.25678	N	0.98583	P;P	0.51791	0.703;0.948	P;P	0.48114	0.567;0.567	T	0.19712	-1.0297	9	0.29301	T	0.29	-1.9916	2.0956	0.03667	0.1311:0.1595:0.3985:0.3109	.	248;288	B3KR70;Q15904	.;VAS1_HUMAN	P	288;218;112	.	ENSP00000358777:L288P	L	+	2	0	ATP6AP1	153315926	0.000000	0.05858	0.005000	0.12908	0.847000	0.48162	-0.480000	0.06559	-0.726000	0.04895	0.430000	0.28490	CTC		0.582	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183	
PDGFRA	5156	hgsc.bcm.edu	37	4	55133833	55133833	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr4:55133833G>A	ENST00000257290.5	+	7	1377	c.1046G>A	c.(1045-1047)tGg>tAg	p.W349*	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	349	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AGGATATCCTGGCTGAAAAAC	0.443			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	0			4											56.0	54.0	55.0					4																	55133833		2203	4300	6503	54828590	SO:0001587	stop_gained	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1046G>A	4.37:g.55133833G>A	ENSP00000257290:p.Trp349*		54828590	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Nonsense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	41	8.637975	0.98895	.	.	ENSG00000134853	ENST00000257290	.	.	.	5.79	5.79	0.91817	.	0.000000	0.30538	U	0.009404	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0361	0.97558	0.0:0.0:1.0:0.0	.	.	.	.	X	349	.	ENSP00000257290:W349X	W	+	2	0	PDGFRA	54828590	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.401000	0.90202	2.745000	0.94114	0.462000	0.41574	TGG		0.443	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
PDGFRA	5156	hgsc.bcm.edu	37	4	55144138	55144138	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr4:55144138A>G	ENST00000257290.5	+	14	2298	c.1967A>G	c.(1966-1968)aAc>aGc	p.N656S	FIP1L1_ENST00000507166.1_Missense_Mutation_p.N416S	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	656	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CCACATTTGAACATTGTAAAC	0.458			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	0			4											82.0	82.0	82.0					4																	55144138		2203	4300	6503	54838895	SO:0001583	missense	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1967A>G	4.37:g.55144138A>G	ENSP00000257290:p.Asn656Ser		54838895	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.840613	0.91197	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.92545	-3.06;-3.06	5.83	5.83	0.93111	Serine-threonine/tyrosine-protein kinase (1);Tyrosine-protein kinase, receptor class III, conserved site (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.34484	U	0.003926	D	0.95965	0.8686	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96409	0.9303	10	0.87932	D	0	.	16.2025	0.82095	1.0:0.0:0.0:0.0	.	656;656	P16234-3;P16234	.;PGFRA_HUMAN	S	416;656	ENSP00000423325:N416S;ENSP00000257290:N656S	ENSP00000423325:N416S	N	+	2	0	FIP1L1;PDGFRA	54838895	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	9.201000	0.95017	2.231000	0.72958	0.459000	0.35465	AAC		0.458	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
KIT	3815	hgsc.bcm.edu	37	4	55602695	55602695	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr4:55602695A>G	ENST00000288135.5	+	18	2613	c.2516A>G	c.(2515-2517)gAa>gGa	p.E839G		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	839	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> K (in mastocytosis; somatic mutation; dominant negative mutation; loss of autophosphorylation). {ECO:0000269|PubMed:9990072}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGGCACCTGAAAGCATTTTC	0.388		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	0			4											147.0	144.0	145.0					4																	55602695		2203	4300	6503	55297452	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2516A>G	4.37:g.55602695A>G	ENSP00000288135:p.Glu839Gly		55297452	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.708041	0.68615	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.97575	-4.44;-4.44	5.7	5.7	0.88788	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000016	D	0.98982	0.9653	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99501	1.0953	10	0.87932	D	0	.	15.9745	0.80049	1.0:0.0:0.0:0.0	.	835;839	P10721-2;P10721	.;KIT_HUMAN	G	839;835	ENSP00000288135:E839G;ENSP00000390987:E835G	ENSP00000288135:E839G	E	+	2	0	KIT	55297452	1.000000	0.71417	0.486000	0.27416	0.245000	0.25701	9.190000	0.94934	2.168000	0.68352	0.533000	0.62120	GAA		0.388	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
KIAA1211	57482	hgsc.bcm.edu	37	4	57181854	57181854	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr4:57181854C>T	ENST00000504228.1	+	6	2291	c.2186C>T	c.(2185-2187)tCc>tTc	p.S729F	KIAA1211_ENST00000264229.6_Missense_Mutation_p.S729F|KIAA1211_ENST00000541073.1_Missense_Mutation_p.S722F			Q6ZU35	K1211_HUMAN	KIAA1211	729										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAGAAATTTTCCGATGGTGGC	0.572																																																	0			4											67.0	77.0	74.0					4																	57181854		1964	4153	6117	56876611	SO:0001583	missense	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2186C>T	4.37:g.57181854C>T	ENSP00000423366:p.Ser729Phe		56876611	Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095332	0.56075	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02787	4.16;4.16;4.16	4.49	4.49	0.54785	.	.	.	.	.	T	0.14056	0.0340	M	0.66939	2.045	0.41687	D	0.98932	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.987;0.987;0.994	T	0.00710	-1.1599	9	0.87932	D	0	-6.4779	17.3612	0.87350	0.0:1.0:0.0:0.0	.	722;722;729	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	F	729;729;722;639	ENSP00000264229:S729F;ENSP00000423366:S729F;ENSP00000444006:S722F	ENSP00000264229:S729F	S	+	2	0	KIAA1211	56876611	1.000000	0.71417	0.724000	0.30704	0.382000	0.30200	5.587000	0.67510	2.317000	0.78254	0.484000	0.47621	TCC		0.572	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722	
MUC7	4589	hgsc.bcm.edu	37	4	71346819	71346819	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr4:71346819T>C	ENST00000304887.5	+	3	548	c.358T>C	c.(358-360)Tcc>Ccc	p.S120P	MUC7_ENST00000456088.1_Missense_Mutation_p.S120P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Missense_Mutation_p.S120P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	120	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCCATCAGCTTCCACCAAAAT	0.433																																																	0			4											126.0	119.0	121.0					4																	71346819		2203	4300	6503	71381408	SO:0001583	missense	4589			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.358T>C	4.37:g.71346819T>C	ENSP00000302021:p.Ser120Pro		71381408	Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	9.389	1.075013	0.20227	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.54866	0.56;0.55;0.56;0.56	2.82	-5.46	0.02608	.	.	.	.	.	T	0.30324	0.0761	N	0.24115	0.695	0.09310	N	1	P	0.39157	0.662	B	0.43225	0.412	T	0.24621	-1.0155	9	0.15499	T	0.54	-0.6797	0.9092	0.01291	0.1475:0.2068:0.3008:0.345	.	120	Q8TAX7	MUC7_HUMAN	P	120	ENSP00000407422:S120P;ENSP00000427594:S120P;ENSP00000400585:S120P;ENSP00000302021:S120P	ENSP00000302021:S120P	S	+	1	0	MUC7	71381408	0.004000	0.15560	0.000000	0.03702	0.006000	0.05464	-0.234000	0.09028	-1.196000	0.02676	-0.316000	0.08728	TCC		0.433	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291	
HERC5	51191	hgsc.bcm.edu	37	4	89425522	89425522	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr4:89425522G>T	ENST00000264350.3	+	21	2875	c.2722G>T	c.(2722-2724)Gtg>Ttg	p.V908L	HERC5_ENST00000508159.1_Missense_Mutation_p.V546L	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	908	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		ACTGAAGGATGTGATTGTTGG	0.343																																					Esophageal Squamous(39;887 1012 34045 50514)												0			4											78.0	80.0	79.0					4																	89425522		2203	4300	6503	89644545	SO:0001583	missense	51191			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2722G>T	4.37:g.89425522G>T	ENSP00000264350:p.Val908Leu		89644545	B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	G	5.388	0.256790	0.10185	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.46063	0.88;0.88	4.62	3.78	0.43462	HECT (4);	0.371554	0.18438	N	0.141213	T	0.20700	0.0498	N	0.04959	-0.14	0.22266	N	0.999241	B	0.10296	0.003	B	0.28305	0.088	T	0.24693	-1.0153	10	0.18276	T	0.48	.	6.3947	0.21605	0.0987:0.1853:0.716:0.0	.	908	Q9UII4	HERC5_HUMAN	L	908;546	ENSP00000264350:V908L;ENSP00000424129:V546L	ENSP00000264350:V908L	V	+	1	0	HERC5	89644545	0.002000	0.14202	0.945000	0.38365	0.262000	0.26303	0.586000	0.23894	1.173000	0.42796	0.655000	0.94253	GTG		0.343	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323	
ADH1B	125	hgsc.bcm.edu	37	4	100235226	100235226	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr4:100235226A>G	ENST00000305046.8	-	6	647	c.580T>C	c.(580-582)Tct>Cct	p.S194P	ADH1B_ENST00000394887.3_Missense_Mutation_p.S154P			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	194					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GCACAGGTAGAGCCTGGGGTG	0.468																																																	0			4											107.0	116.0	113.0					4																	100235226		2203	4300	6503	100454249	SO:0001583	missense	125			AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.580T>C	4.37:g.100235226A>G	ENSP00000306606:p.Ser194Pro		100454249	A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.683449	0.47991	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.32272	1.46;1.46	3.81	3.81	0.43845	GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.70482	0.3229	H	0.98996	4.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.82030	-0.0659	10	0.87932	D	0	-12.0051	12.5708	0.56337	1.0:0.0:0.0:0.0	.	181;154;194	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	P	194;154;181	ENSP00000306606:S194P;ENSP00000378351:S154P	ENSP00000306606:S194P	S	-	1	0	ADH1B	100454249	1.000000	0.71417	0.981000	0.43875	0.050000	0.14768	8.453000	0.90349	1.343000	0.45638	0.459000	0.35465	TCT		0.468	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668	
TBCK	93627	hgsc.bcm.edu	37	4	107154748	107154748	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr4:107154748T>C	ENST00000273980.5	-	17	1956	c.1509A>G	c.(1507-1509)agA>agG	p.R503R	TBCK_ENST00000432496.2_Silent_p.R503R|TBCK_ENST00000361687.4_Silent_p.R440R|TBCK_ENST00000394708.2_Silent_p.R503R|TBCK_ENST00000394706.3_Silent_p.R464R					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						ATCATACTTGTCTATCTGTAG	0.318																																																	0			4											58.0	55.0	56.0					4																	107154748		2202	4297	6499	107374197	SO:0001819	synonymous_variant	0				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.1509A>G	4.37:g.107154748T>C			107374197		Silent	SNP	ENST00000273980.5	37	CCDS54788.1																																																																																				0.318	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115	
MFSD8	256471	hgsc.bcm.edu	37	4	128863276	128863276	+	Silent	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr4:128863276A>G	ENST00000296468.3	-	6	604	c.477T>C	c.(475-477)gcT>gcC	p.A159A	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Silent_p.A114A|MFSD8_ENST00000541133.1_Silent_p.A114A	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	159					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GAAGGGAAGTAGCACCAGCAG	0.348																																																	0			4											189.0	168.0	175.0					4																	128863276		2203	4300	6503	129082726	SO:0001819	synonymous_variant	256471			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.477T>C	4.37:g.128863276A>G			129082726	B2RDM1|B7Z205|Q8N2P3	Silent	SNP	ENST00000296468.3	37	CCDS3736.1																																																																																				0.348	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778	
TLR2	7097	hgsc.bcm.edu	37	4	154626007	154626007	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr4:154626007C>T	ENST00000260010.6	+	1	3356	c.1948C>T	c.(1948-1950)Cgg>Tgg	p.R650W		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	650	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TTACAGTGAGCGGGATGCCTA	0.502																																																	0			4											42.0	41.0	42.0					4																	154626007		2203	4300	6503	154845457	SO:0001583	missense	7097			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1948C>T	4.37:g.154626007C>T	ENSP00000260010:p.Arg650Trp		154845457	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608959	0.46527	.	.	ENSG00000137462	ENST00000260010	T	0.28895	1.59	5.65	3.77	0.43336	Toll/interleukin-1 receptor homology (TIR) domain (4);	1.767260	0.02534	N	0.093961	T	0.47710	0.1460	M	0.61703	1.905	0.09310	N	1	D	0.64830	0.994	P	0.53518	0.728	T	0.16630	-1.0396	10	0.87932	D	0	.	8.5546	0.33474	0.3748:0.4886:0.1366:0.0	.	650	O60603	TLR2_HUMAN	W	650	ENSP00000260010:R650W	ENSP00000260010:R650W	R	+	1	2	TLR2	154845457	0.000000	0.05858	0.005000	0.12908	0.720000	0.41350	0.763000	0.26517	1.293000	0.44690	0.655000	0.94253	CGG		0.502	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1		
FAT1	2195	hgsc.bcm.edu	37	4	187628149	187628149	+	Missense_Mutation	SNP	C	C	T	rs377150532		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr4:187628149C>T	ENST00000441802.2	-	2	3042	c.2833G>A	c.(2833-2835)Gtc>Atc	p.V945I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	945	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CACATGATGACGGTTCCTTCT	0.448										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0			4						C	ILE/VAL	0,3856		0,0,1928	232.0	222.0	225.0		2833	-1.4	0.7	4		225	1,8283		0,1,4141	no	missense	FAT1	NM_005245.3	29	0,1,6069	TT,TC,CC		0.0121,0.0,0.0082	benign	945/4589	187628149	1,12139	1928	4142	6070	187865143	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2833G>A	4.37:g.187628149C>T	ENSP00000406229:p.Val945Ile		187865143		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	5.535	0.283562	0.10458	0.0	1.21E-4	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.51817	0.69	4.67	-1.35	0.09114	Cadherin (3);Cadherin-like (1);	0.299519	0.35495	N	0.003161	T	0.31734	0.0806	L	0.41415	1.275	0.43688	D	0.996131	B	0.15141	0.012	B	0.15484	0.013	T	0.13124	-1.0521	10	0.15499	T	0.54	.	10.5338	0.44992	0.0:0.4501:0.0:0.5499	.	945	Q14517	FAT1_HUMAN	I	945	ENSP00000406229:V945I	ENSP00000260147:V945I	V	-	1	0	FAT1	187865143	0.965000	0.33210	0.713000	0.30519	0.124000	0.20399	1.462000	0.35266	-0.135000	0.11495	-0.339000	0.08088	GTC		0.448	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
GREB1	9687	hgsc.bcm.edu	37	2	11777956	11777956	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:11777956C>A	ENST00000381486.2	+	31	5761	c.5461C>A	c.(5461-5463)Cac>Aac	p.H1821N	GREB1_ENST00000234142.5_Missense_Mutation_p.H1821N|GREB1_ENST00000396123.1_Missense_Mutation_p.H819N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1821						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCTGCAGCACCACAGCCACCT	0.617																																					Ovarian(39;850 945 2785 23371 33093)												0			2											74.0	81.0	79.0					2																	11777956		2151	4258	6409	11695407	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5461C>A	2.37:g.11777956C>A	ENSP00000370896:p.His1821Asn		11695407	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351241	0.24512	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.47177	0.85;0.85;0.85	4.75	4.75	0.60458	.	0.109140	0.64402	D	0.000008	T	0.42268	0.1195	L	0.43152	1.355	0.37995	D	0.934045	B	0.13145	0.007	B	0.16722	0.016	T	0.37934	-0.9684	10	0.21014	T	0.42	-28.2448	17.7654	0.88476	0.0:1.0:0.0:0.0	.	1821	Q4ZG55	GREB1_HUMAN	N	1821;1821;819	ENSP00000370896:H1821N;ENSP00000234142:H1821N;ENSP00000379429:H819N	ENSP00000234142:H1821N	H	+	1	0	GREB1	11695407	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.169000	0.42434	2.186000	0.69663	0.557000	0.71058	CAC		0.617	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
MYCN	4613	hgsc.bcm.edu	37	2	16085898	16085898	+	Silent	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:16085898G>A	ENST00000281043.3	+	3	1371	c.1074G>A	c.(1072-1074)ccG>ccA	p.P358P		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	358					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CCCCACGTCCGCTCAAGAGTG	0.597			A		neuroblastoma																																			Dom	yes		2	2p24.1	4613	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""		O	0			2											43.0	43.0	43.0					2																	16085898		2203	4300	6503	16003349	SO:0001819	synonymous_variant	4613			BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1074G>A	2.37:g.16085898G>A			16003349	Q53XS5|Q6LDT9	Silent	SNP	ENST00000281043.3	37	CCDS1687.1																																																																																				0.597	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378	
APOB	338	hgsc.bcm.edu	37	2	21231334	21231334	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:21231334T>C	ENST00000233242.1	-	26	8533	c.8406A>G	c.(8404-8406)gaA>gaG	p.E2802E		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2802					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATTGAGAACTTCTAATTTGG	0.438																																																	0			2											104.0	106.0	105.0					2																	21231334		2203	4300	6503	21084839	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8406A>G	2.37:g.21231334T>C			21084839	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	hgsc.bcm.edu	37	2	21235160	21235160	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:21235160A>G	ENST00000233242.1	-	26	4707	c.4580T>C	c.(4579-4581)cTc>cCc	p.L1527P		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1527					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.L1527H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGCCTTGGAGGTAGGAGGA	0.488																																																	1	Substitution - Missense(1)	ovary(1)	2											121.0	123.0	123.0					2																	21235160		2203	4300	6503	21088665	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4580T>C	2.37:g.21235160A>G	ENSP00000233242:p.Leu1527Pro		21088665	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.286495	0.80803	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01076	5.37	5.88	5.88	0.94601	.	1.077840	0.07220	N	0.860701	T	0.01661	0.0053	L	0.29908	0.895	0.80722	D	1	B	0.34372	0.451	B	0.26517	0.07	T	0.65751	-0.6092	10	0.87932	D	0	.	16.3009	0.82811	1.0:0.0:0.0:0.0	.	1527	P04114	APOB_HUMAN	P	1527	ENSP00000233242:L1527P	ENSP00000233242:L1527P	L	-	2	0	APOB	21088665	1.000000	0.71417	0.908000	0.35775	0.994000	0.84299	8.842000	0.92136	2.246000	0.74042	0.533000	0.62120	CTC		0.488	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
PLB1	151056	hgsc.bcm.edu	37	2	28821613	28821613	+	Silent	SNP	C	C	T	rs35746006	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:28821613C>T	ENST00000327757.5	+	35	2504	c.2460C>T	c.(2458-2460)ccC>ccT	p.P820P	PLB1_ENST00000422425.2_Silent_p.P809P	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	820	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AAGCTGTTCCCGGAGCAAAGG	0.537													C|||	187	0.0373403	0.0061	0.062	5008	,	,		23140	0.0		0.1034	False		,,,				2504	0.0327																0			2						C	,	90,4316	74.1+/-112.3	1,88,2114	126.0	117.0	120.0		2427,2460	-3.0	1.0	2	dbSNP_126	120	912,7688	203.4+/-246.4	44,824,3432	no	coding-synonymous,coding-synonymous	PLB1	NM_001170585.1,NM_153021.4	,	45,912,5546	TT,TC,CC		10.6047,2.0427,7.7041	,	809/1448,820/1459	28821613	1002,12004	2203	4300	6503	28675117	SO:0001819	synonymous_variant	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2460C>T	2.37:g.28821613C>T			28675117	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	CCDS33168.1	125	0.05723443223443223	7	0.014227642276422764	32	0.08839779005524862	0	0.0	86	0.11345646437994723	C	6.397	0.441408	0.12164	0.020427	0.106047	ENSG00000163803	ENST00000404858	T	0.23147	1.92	5.84	-3.04	0.05412	.	0.176611	0.40908	D	0.000982	T	0.00328	0.0010	.	.	.	0.09310	P	0.9999999999999996	.	.	.	.	.	.	T	0.07501	-1.0769	6	0.54805	T	0.06	-7.3789	1.0688	0.01616	0.1433:0.2178:0.1962:0.4428	rs35746006;rs61745135	.	.	.	L	808	ENSP00000384187:P808L	ENSP00000384187:P808L	P	+	2	0	PLB1	28675117	0.014000	0.17966	0.980000	0.43619	0.589000	0.36550	-1.888000	0.01616	-0.131000	0.11578	-1.434000	0.01081	CCG		0.537	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2		
GTF2A1L	11036	hgsc.bcm.edu	37	2	48873704	48873704	+	Silent	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:48873704A>G	ENST00000403751.3	+	6	538	c.501A>G	c.(499-501)gtA>gtG	p.V167V	STON1-GTF2A1L_ENST00000309827.2_Silent_p.V871V|LHCGR_ENST00000420913.3_5'UTR|STON1-GTF2A1L_ENST00000394754.1_Silent_p.V871V|STON1-GTF2A1L_ENST00000394751.3_Silent_p.V824V|GTF2A1L_ENST00000430487.2_Silent_p.V133V|STON1-GTF2A1L_ENST00000402114.2_Silent_p.V871V|STON1-GTF2A1L_ENST00000405008.1_Silent_p.V871V	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	167					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.V871V(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCCTTCAGTAATACAAACTA	0.413																																																	1	Substitution - coding silent(1)	ovary(1)	2											99.0	98.0	98.0					2																	48873704		2203	4300	6503	48727208	SO:0001819	synonymous_variant	11036			AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.501A>G	2.37:g.48873704A>G			48727208	B4DY14|Q53FD9|Q5D050	Silent	SNP	ENST00000403751.3	37	CCDS46281.1																																																																																				0.413	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872	
CCT4	10575	hgsc.bcm.edu	37	2	62099331	62099331	+	Silent	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:62099331C>T	ENST00000394440.3	-	12	1673	c.1377G>A	c.(1375-1377)gaG>gaA	p.E459E	CCT4_ENST00000544185.1_Silent_p.E309E|CCT4_ENST00000544079.1_Silent_p.E429E|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000538252.1_Silent_p.E403E	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	459					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.E459D(1)		breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			ATGGAATGACCTCCATAGCAT	0.463																																																	1	Substitution - Missense(1)	ovary(1)	2											108.0	101.0	103.0					2																	62099331		2203	4300	6503	61952835	SO:0001819	synonymous_variant	10575				CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"""Heat Shock Proteins / Chaperonins"""	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1377G>A	2.37:g.62099331C>T			61952835	B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Silent	SNP	ENST00000394440.3	37	CCDS33206.1																																																																																				0.463	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2		
CNTNAP5	129684	hgsc.bcm.edu	37	2	125521565	125521565	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:125521565A>G	ENST00000431078.1	+	16	2735	c.2371A>G	c.(2371-2373)Aac>Gac	p.N791D		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	791	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACGCTTCTGGAACGCCGTCTC	0.423																																																	0			2											123.0	117.0	119.0					2																	125521565		1883	4094	5977	125238035	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2371A>G	2.37:g.125521565A>G	ENSP00000399013:p.Asn791Asp		125238035	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.939680	0.92526	.	.	ENSG00000155052	ENST00000431078	T	0.44881	0.91	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.000000	0.53938	D	0.000049	T	0.62282	0.2415	M	0.73372	2.23	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.59172	-0.7504	10	0.26408	T	0.33	.	15.5035	0.75719	1.0:0.0:0.0:0.0	.	791	Q8WYK1	CNTP5_HUMAN	D	791	ENSP00000399013:N791D	ENSP00000399013:N791D	N	+	1	0	CNTNAP5	125238035	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.205000	0.95048	2.263000	0.75096	0.533000	0.62120	AAC		0.423	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
MAP3K19	80122	hgsc.bcm.edu	37	2	135744386	135744386	+	Missense_Mutation	SNP	G	G	C	rs148647253		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:135744386G>C	ENST00000375845.3	-	7	2086	c.2056C>G	c.(2056-2058)Cgt>Ggt	p.R686G	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R703G|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R573G|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	686							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CATATCTCACGGTAATACGTG	0.418																																																	0			2											191.0	174.0	180.0					2																	135744386		2203	4300	6503	135460856	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2056C>G	2.37:g.135744386G>C	ENSP00000365005:p.Arg686Gly		135460856	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	3.989	-0.004861	0.07773	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.77750	-1.01;-0.98;1.35;-1.12	4.94	3.99	0.46301	.	0.918070	0.09061	N	0.854365	T	0.81049	0.4742	L	0.43923	1.385	0.21627	N	0.999618	P;D;P	0.58620	0.841;0.983;0.753	B;P;B	0.57548	0.401;0.823;0.226	T	0.69292	-0.5183	10	0.87932	D	0	.	10.6429	0.45602	0.0:0.0:0.6214:0.3786	.	573;703;686	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	G	686;573;703;76	ENSP00000365005:R686G;ENSP00000351140:R573G;ENSP00000376647:R703G;ENSP00000392827:R76G	ENSP00000351140:R573G	R	-	1	0	YSK4	135460856	0.134000	0.22483	0.079000	0.20413	0.039000	0.13416	1.413000	0.34725	2.557000	0.86248	0.561000	0.74099	CGT		0.418	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
BAZ2B	29994	hgsc.bcm.edu	37	2	160289481	160289481	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:160289481C>A	ENST00000392783.2	-	9	2182	c.1687G>T	c.(1687-1689)Ggg>Tgg	p.G563W	BAZ2B_ENST00000392782.1_Missense_Mutation_p.G561W|BAZ2B_ENST00000343439.5_Missense_Mutation_p.G561W|BAZ2B_ENST00000355831.2_Missense_Mutation_p.G563W	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G563R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTTCCTTCCCTTGACTATGC	0.448																																																	1	Substitution - Missense(1)	ovary(1)	2											196.0	182.0	187.0					2																	160289481		1909	4126	6035	159997727	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1687G>T	2.37:g.160289481C>A	ENSP00000376534:p.Gly563Trp		159997727	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196863	0.38806	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	5.92	5.92	0.95590	.	0.000000	0.37669	U	0.001981	T	0.71247	0.3317	L	0.51422	1.61	0.45390	D	0.998376	D;D;D;D;D	0.89917	1.0;0.997;0.993;0.993;0.988	D;D;P;P;P	0.87578	0.998;0.924;0.724;0.852;0.715	T	0.72265	-0.4344	10	0.87932	D	0	-8.9802	15.0866	0.72158	0.1417:0.8583:0.0:0.0	.	563;367;561;561;563	Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;BAZ2B_HUMAN	W	561;563;563;561;500	ENSP00000376533:G561W;ENSP00000376534:G563W;ENSP00000348087:G563W;ENSP00000339670:G561W	ENSP00000339670:G561W	G	-	1	0	BAZ2B	159997727	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.112000	0.50368	2.818000	0.97014	0.655000	0.94253	GGG		0.448	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2		
FASTKD1	79675	hgsc.bcm.edu	37	2	170417202	170417202	+	Silent	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:170417202G>A	ENST00000453153.2	-	5	1012	c.666C>T	c.(664-666)acC>acT	p.T222T	FASTKD1_ENST00000453929.2_Silent_p.T222T	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	222					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AAGAATCTATGGTGTCAAAAA	0.333																																																	0			2											51.0	50.0	50.0					2																	170417202		2203	4298	6501	170125448	SO:0001819	synonymous_variant	79675			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.666C>T	2.37:g.170417202G>A			170125448	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Silent	SNP	ENST00000453153.2	37	CCDS33318.1																																																																																				0.333	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622	
ZAK	51776	hgsc.bcm.edu	37	2	174055832	174055832	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:174055832T>C	ENST00000375213.3	+	7	587	c.509T>C	c.(508-510)tTc>tCc	p.F170S	MLTK_ENST00000431503.2_Missense_Mutation_p.F69S|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000480606.1_3'UTR|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000338983.3_Missense_Mutation_p.F170S|MLTK_ENST00000409176.2_Missense_Mutation_p.F170S|MLTK_ENST00000539448.1_Missense_Mutation_p.F170S	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		170	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										GTTGGAACTTTCCCATGGATG	0.423																																																	0			2											168.0	158.0	161.0					2																	174055832		2203	4300	6503	173764078	SO:0001583	missense	51776																														ENST00000375213.3:c.509T>C	2.37:g.174055832T>C	ENSP00000364361:p.Phe170Ser		173764078	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	T	33	5.214533	0.95104	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000431503;ENST00000375213	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.9	5.9	0.94986	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84238	0.5428	N	0.13098	0.295	0.80722	D	1	D;P;D;D;D	0.76494	0.964;0.955;0.999;0.964;0.999	P;P;D;P;D	0.80764	0.761;0.648;0.98;0.761;0.994	D	0.86880	0.2041	10	0.59425	D	0.04	.	16.3318	0.83023	0.0:0.0:0.0:1.0	.	170;170;170;170;170	A8K710;Q9NYL2-2;Q9NYL2;D4Q8H0;Q9NYL2-3	.;.;MLTK_HUMAN;.;.	S	170;170;170;69;170	ENSP00000439414:F170S;ENSP00000387259:F170S;ENSP00000340257:F170S;ENSP00000399787:F69S;ENSP00000364361:F170S	ENSP00000340257:F170S	F	+	2	0	AC013461.1	173764078	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.966000	0.87956	2.248000	0.74166	0.460000	0.39030	TTC		0.423	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1		
TTN	7273	hgsc.bcm.edu	37	2	179440587	179440587	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:179440587T>C	ENST00000591111.1	-	276	65573	c.65349A>G	c.(65347-65349)aaA>aaG	p.K21783K	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.K20856K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.K14484K|TTN_ENST00000460472.2_Silent_p.K14359K|TTN_ENST00000589042.1_Silent_p.K23424K|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.K14551K			Q8WZ42	TITIN_HUMAN	titin	21783	Ig-like 114.				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)			CAAAGCCACTTTTCTTCCCAG	0.473																																																	0			2											104.0	115.0	111.0					2																	179440587		2024	4200	6224	179148833	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.65349A>G	2.37:g.179440587T>C			179148833	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																																																																																					0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179452773	179452773	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:179452773C>T	ENST00000591111.1	-	255	58662	c.58438G>A	c.(58438-58440)Gct>Act	p.A19480T	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A18553T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A12181T|TTN_ENST00000460472.2_Missense_Mutation_p.A12056T|TTN_ENST00000589042.1_Missense_Mutation_p.A21121T|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A12248T			Q8WZ42	TITIN_HUMAN	titin	19480	Fibronectin type-III 41. {ECO:0000255|PROSITE-ProRule:PRU00316}.		A -> S (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)	p.A12056S(1)		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)			TGTGCTGCAGCATTACACCGT	0.463																																																	1	Substitution - Missense(1)	stomach(1)	2											99.0	95.0	96.0					2																	179452773		1974	4168	6142	179161019	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.58438G>A	2.37:g.179452773C>T	ENSP00000465570:p.Ala19480Thr		179161019	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		.	.	.	.	.	.	.	.	.	.	C	11.49	1.655221	0.29425	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.78	5.78	0.91487	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.27278	0.0669	N	0.00473	-1.45	0.37235	D	0.905862	B;B;B;B	0.17465	0.022;0.022;0.022;0.022	B;B;B;B	0.16289	0.008;0.008;0.008;0.015	T	0.40308	-0.9570	9	0.87932	D	0	.	20.0204	0.97499	0.0:1.0:0.0:0.0	.	12056;12181;12248;19480	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	18553;12056;12248;12181;12054	ENSP00000343764:A18553T;ENSP00000434586:A12056T;ENSP00000340554:A12248T;ENSP00000352154:A12181T	ENSP00000340554:A12248T	A	-	1	0	TTN	179161019	1.000000	0.71417	0.994000	0.49952	0.534000	0.34807	5.893000	0.69798	2.729000	0.93468	0.650000	0.86243	GCT		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179474015	179474015	+	Missense_Mutation	SNP	C	C	T	rs370390570	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:179474015C>T	ENST00000591111.1	-	223	47323	c.47099G>A	c.(47098-47100)cGa>cAa	p.R15700Q	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R14773Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R8401Q|TTN_ENST00000460472.2_Missense_Mutation_p.R8276Q|TTN_ENST00000589042.1_Missense_Mutation_p.R17341Q|TTN_ENST00000342175.6_Missense_Mutation_p.R8468Q			Q8WZ42	TITIN_HUMAN	titin	15700	Ig-like 98.		R -> Q. {ECO:0000269|PubMed:17344846}.		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)			ATGGTCAGGTCGGAGAGAATC	0.438													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19855	0.0		0.0	False		,,,				2504	0.0																0			2						C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	2,3820		0,2,1909	95.0	91.0	92.0		24827,44318,25202,25403	5.7	1.0	2		92	1,8245		0,1,4122	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	43,43,43,43	0,3,6031	TT,TC,CC		0.0121,0.0523,0.0249	probably-damaging,probably-damaging,probably-damaging,probably-damaging	8276/26927,14773/33424,8401/27052,8468/27119	179474015	3,12065	1911	4123	6034	179182260	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.47099G>A	2.37:g.179474015C>T	ENSP00000465570:p.Arg15700Gln		179182260	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		.	.	.	.	.	.	.	.	.	.	C	18.46	3.629500	0.67015	5.23E-4	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.68	5.68	0.88126	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71434	0.3339	M	0.88241	2.94	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.68943	0.961;0.961;0.961;0.961	T	0.76664	-0.2876	9	0.87932	D	0	.	19.8608	0.96783	0.0:1.0:0.0:0.0	.	8276;8401;8468;15700	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	14773;8276;8468;8401;8276	ENSP00000343764:R14773Q;ENSP00000434586:R8276Q;ENSP00000340554:R8468Q;ENSP00000352154:R8401Q	ENSP00000340554:R8468Q	R	-	2	0	TTN	179182260	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.514000	0.81750	2.680000	0.91292	0.558000	0.71614	CGA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179605985	179605985	+	Missense_Mutation	SNP	C	C	A	rs72648919		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:179605985C>A	ENST00000591111.1	-	46	11248	c.11024G>T	c.(11023-11025)gGc>gTc	p.G3675V	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G3754V|TTN_ENST00000460472.2_Missense_Mutation_p.G3629V|TTN_ENST00000589042.1_Missense_Mutation_p.G3992V|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G3821V			Q8WZ42	TITIN_HUMAN	titin	13978	Ig-like 22.				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)			AGTTCCAGAGCCATTAGGGTT	0.453																																																	0			2											83.0	82.0	82.0					2																	179605985		1907	4126	6033	179314230	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.11024G>T	2.37:g.179605985C>A	ENSP00000465570:p.Gly3675Val		179314230	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		.	.	.	.	.	.	.	.	.	.	C	10.58	1.391175	0.25118	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.68479	-0.33;-0.33;-0.33	5.87	5.87	0.94306	.	.	.	.	.	D	0.86306	0.5901	M	0.90425	3.115	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	D	0.87623	0.2511	9	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	3629;3754;3821	D3DPF9;E7EQE6;E7ET18	.;.;.	V	3629;3821;3754;3629	ENSP00000434586:G3629V;ENSP00000340554:G3821V;ENSP00000352154:G3754V	ENSP00000340554:G3821V	G	-	2	0	TTN	179314230	1.000000	0.71417	0.958000	0.39756	0.083000	0.17756	7.360000	0.79487	2.941000	0.99782	0.655000	0.94253	GGC		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179611219	179611219	+	Intron	SNP	C	C	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:179611219C>A	ENST00000591111.1	-	46	10585				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R5303I|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			AGAAGGTGTTCTTGATGATGT	0.413																																																	0			2											95.0	90.0	92.0					2																	179611219		2203	4299	6502	179319464	SO:0001627	intron_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.10361-4571G>T	2.37:g.179611219C>A			179319464	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		.	.	.	.	.	.	.	.	.	.	C	19.32	3.804401	0.70682	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.59083	0.29	5.88	5.88	0.94601	.	.	.	.	.	T	0.75019	0.3793	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.70403	-0.4881	9	0.35671	T	0.21	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	5303	Q8WZ42-6	.	I	5303;584	ENSP00000354117:R5303I	ENSP00000304714:R584I	R	-	2	0	TTN	179319464	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.070000	0.71220	2.782000	0.95742	0.655000	0.94253	AGA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179648840	179648840	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:179648840A>G	ENST00000591111.1	-	16	2956	c.2732T>C	c.(2731-2733)gTc>gCc	p.V911A	TTN_ENST00000342992.6_Missense_Mutation_p.V911A|TTN_ENST00000360870.5_Missense_Mutation_p.V911A|TTN_ENST00000359218.5_Missense_Mutation_p.V865A|TTN_ENST00000460472.2_Missense_Mutation_p.V865A|TTN_ENST00000589042.1_Missense_Mutation_p.V911A|TTN_ENST00000342175.6_Missense_Mutation_p.V865A			Q8WZ42	TITIN_HUMAN	titin	33948					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)			CTCTTCACGGACGGTGGTGCC	0.552																																																	0			2											150.0	120.0	131.0					2																	179648840		2203	4300	6503	179357085	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.2732T>C	2.37:g.179648840A>G	ENSP00000465570:p.Val911Ala		179357085	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		.	.	.	.	.	.	.	.	.	.	A	12.98	2.098943	0.37048	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.63744	-0.06;0.18;0.16;0.15;0.29	5.52	4.36	0.52297	Ribonuclease H-like (1);	.	.	.	.	T	0.47746	0.1462	N	0.20986	0.625	0.09310	N	0.999993	B;B;B;B;B	0.09022	0.0;0.0;0.0;0.002;0.001	B;B;B;B;B	0.09377	0.0;0.0;0.001;0.002;0.004	T	0.43909	-0.9362	9	0.87932	D	0	.	9.0211	0.36200	0.8571:0.0:0.1429:0.0	.	865;865;865;911;911	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	A	911;865;865;865;865;911	ENSP00000343764:V911A;ENSP00000434586:V865A;ENSP00000340554:V865A;ENSP00000352154:V865A;ENSP00000354117:V911A	ENSP00000340554:V865A	V	-	2	0	TTN	179357085	0.097000	0.21791	0.597000	0.28824	0.228000	0.25075	3.488000	0.53229	1.033000	0.39918	0.533000	0.62120	GTC		0.552	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
DUSP19	142679	hgsc.bcm.edu	37	2	183960271	183960271	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:183960271T>C	ENST00000354221.4	+	4	714	c.539T>C	c.(538-540)gTg>gCg	p.V180A	AC064871.3_ENST00000413954.1_RNA|DUSP19_ENST00000469344.1_3'UTR|DUSP19_ENST00000342619.6_Missense_Mutation_p.V129A|AC064871.3_ENST00000444562.1_RNA	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	180	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						TTTTCTTTGGTGAAAAATGCA	0.408																																																	0			2											133.0	135.0	134.0					2																	183960271		2203	4300	6503	183668516	SO:0001583	missense	142679			AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.539T>C	2.37:g.183960271T>C	ENSP00000346160:p.Val180Ala		183668516	B2RA79|Q547H4|Q8WYN4	Missense_Mutation	SNP	ENST00000354221.4	37	CCDS2289.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.647117	0.67358	.	.	ENSG00000162999	ENST00000342619;ENST00000354221	D;D	0.89270	-2.49;-2.49	5.74	5.74	0.90152	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.107189	0.64402	D	0.000005	D	0.93533	0.7936	M	0.83118	2.625	0.80722	D	1	P;P	0.46578	0.778;0.88	B;P	0.55087	0.399;0.768	D	0.94081	0.7344	10	0.62326	D	0.03	.	16.0247	0.80536	0.0:0.0:0.0:1.0	.	129;180	Q8WTR2-2;Q8WTR2	.;DUS19_HUMAN	A	129;180	ENSP00000343905:V129A;ENSP00000346160:V180A	ENSP00000343905:V129A	V	+	2	0	DUSP19	183668516	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.193000	0.77780	2.189000	0.69895	0.482000	0.46254	GTG		0.408	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255866.1		
FAM171B	165215	hgsc.bcm.edu	37	2	187615954	187615954	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:187615954T>C	ENST00000304698.5	+	5	1021	c.818T>C	c.(817-819)gTt>gCt	p.V273A		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	273						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCTATTCAAGTTTCTCTTCCT	0.368																																																	0			2											108.0	114.0	112.0					2																	187615954		2203	4300	6503	187324199	SO:0001583	missense	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.818T>C	2.37:g.187615954T>C	ENSP00000304108:p.Val273Ala		187324199	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.967552	0.53507	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.42513	0.97	5.34	5.34	0.76211	.	0.550372	0.20261	N	0.095865	T	0.37571	0.1008	L	0.38175	1.15	0.21473	N	0.999674	B;B	0.21147	0.052;0.052	B;B	0.27715	0.082;0.082	T	0.35325	-0.9793	10	0.54805	T	0.06	-0.8584	13.897	0.63778	0.0:0.0:0.0:1.0	.	273;274	Q6P995;A8K122	F171B_HUMAN;.	A	273	ENSP00000304108:V273A	ENSP00000272804:V273A	V	+	2	0	FAM171B	187324199	1.000000	0.71417	0.485000	0.27403	0.689000	0.40095	6.318000	0.72866	2.029000	0.59856	0.496000	0.49642	GTT		0.368	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454	
COL3A1	1281	hgsc.bcm.edu	37	2	189875583	189875583	+	Silent	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:189875583A>G	ENST00000304636.3	+	50	4391	c.4221A>G	c.(4219-4221)aaA>aaG	p.K1407K	COL3A1_ENST00000317840.5_Silent_p.K1104K	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1407	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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)	GAAATAGCAAATTCACCTACA	0.398																																																	0			2											100.0	92.0	95.0					2																	189875583		2203	4300	6503	189583828	SO:0001819	synonymous_variant	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.4221A>G	2.37:g.189875583A>G			189583828	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	CCDS2297.1																																																																																				0.398	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
ERBB4	2066	hgsc.bcm.edu	37	2	212286805	212286805	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:212286805C>T	ENST00000342788.4	-	24	3201	c.2891G>A	c.(2890-2892)aGa>aAa	p.R964K	ERBB4_ENST00000402597.1_Missense_Mutation_p.R954K|ERBB4_ENST00000436443.1_Missense_Mutation_p.R964K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	964	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	AAATTTAGGTCTACTGTCAGC	0.353										TSP Lung(8;0.080)																																							0			2											109.0	102.0	105.0					2																	212286805		2203	4300	6503	211995050	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2891G>A	2.37:g.212286805C>T	ENSP00000342235:p.Arg964Lys		211995050	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	36	5.633688	0.96682	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.87029	-2.2;-2.2;-2.2	5.71	5.71	0.89125	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97087	0.9048	H	0.99732	4.735	0.80722	D	1	D;D;D;D	0.89917	0.993;1.0;0.993;0.994	P;D;P;D	0.91635	0.87;0.999;0.87;0.921	D	0.98626	1.0669	10	0.87932	D	0	.	19.8494	0.96733	0.0:1.0:0.0:0.0	.	954;954;964;964	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	K	964;964;954	ENSP00000342235:R964K;ENSP00000403204:R964K;ENSP00000385565:R954K	ENSP00000342235:R964K	R	-	2	0	ERBB4	211995050	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.800000	0.85949	2.705000	0.92388	0.585000	0.79938	AGA		0.353	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
ABCA12	26154	hgsc.bcm.edu	37	2	215862429	215862429	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:215862429C>T	ENST00000272895.7	-	23	3503	c.3284G>A	c.(3283-3285)cGg>cAg	p.R1095Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.R777Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1095					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.R1095P(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCATGAAGCCGGAGGTCTTT	0.358																																					Ovarian(66;664 1488 5121 34295)												1	Substitution - Missense(1)	ovary(1)	2											79.0	76.0	77.0					2																	215862429		2203	4300	6503	215570674	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3284G>A	2.37:g.215862429C>T	ENSP00000272895:p.Arg1095Gln		215570674	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769713	0.69992	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.83992	-1.79;-1.79	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000019	D	0.87237	0.6127	M	0.64997	1.995	0.80722	D	1	D;P	0.65815	0.995;0.882	P;B	0.53722	0.733;0.292	D	0.84146	0.0420	10	0.27785	T	0.31	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	1095;777	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Q	1095;777	ENSP00000272895:R1095Q;ENSP00000374312:R777Q	ENSP00000272895:R1095Q	R	-	2	0	ABCA12	215570674	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.283000	0.78640	2.780000	0.95670	0.655000	0.94253	CGG		0.358	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
SP100	6672	hgsc.bcm.edu	37	2	231309028	231309028	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:231309028G>A	ENST00000264052.5	+	4	761	c.406G>A	c.(406-408)Gat>Aat	p.D136N	SP100_ENST00000409112.1_Missense_Mutation_p.D136N|SP100_ENST00000409824.1_Missense_Mutation_p.D111N|SP100_ENST00000341950.4_Missense_Mutation_p.D136N|SP100_ENST00000409341.1_Missense_Mutation_p.D136N|SP100_ENST00000340126.4_Missense_Mutation_p.D136N|SP100_ENST00000409897.1_Missense_Mutation_p.D101N|SP100_ENST00000427101.2_Missense_Mutation_p.D111N	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	136	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.D136N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGAATACCCCGATTTAATTCA	0.358																																																	1	Substitution - Missense(1)	ovary(1)	2											119.0	122.0	121.0					2																	231309028		2203	4300	6503	231017272	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.406G>A	2.37:g.231309028G>A	ENSP00000264052:p.Asp136Asn		231017272	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124922	0.56613	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000432979;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	D;D;D;D;D;D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42;-3.42;-3.42;-3.42;-3.42;-3.42	3.89	3.01	0.34805	Sp100 (2);	.	.	.	.	D	0.95300	0.8475	L	0.56124	1.755	0.09310	N	1	D;D;D;D;D;D;P;D	0.89917	0.992;1.0;0.997;0.999;0.996;1.0;0.897;0.996	P;D;P;P;P;D;P;P	0.72982	0.803;0.979;0.876;0.905;0.885;0.932;0.447;0.803	D	0.87584	0.2486	9	0.48119	T	0.1	.	7.4744	0.27368	0.1177:0.0:0.8823:0.0	.	111;136;101;136;136;136;111;136	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	N	136;111;111;111;136;136;136;136;101	ENSP00000264052:D136N;ENSP00000399389:D111N;ENSP00000391616:D111N;ENSP00000387311:D111N;ENSP00000386404:D136N;ENSP00000386427:D136N;ENSP00000343023:D136N;ENSP00000342729:D136N;ENSP00000386998:D101N	ENSP00000264052:D136N	D	+	1	0	SP100	231017272	0.001000	0.12720	0.002000	0.10522	0.060000	0.15804	0.865000	0.27940	1.218000	0.43458	0.557000	0.71058	GAT		0.358	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113	
ESPNL	339768	hgsc.bcm.edu	37	2	239013475	239013475	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:239013475G>A	ENST00000343063.3	+	3	927	c.664G>A	c.(664-666)Gtc>Atc	p.V222I	ESPNL_ENST00000409169.1_Missense_Mutation_p.V222I	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	222										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTCCCTCGTCGTCTGGCTGGT	0.667																																																	0			2											17.0	16.0	17.0					2																	239013475		2183	4270	6453	238678214	SO:0001583	missense	339768			AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.664G>A	2.37:g.239013475G>A	ENSP00000339115:p.Val222Ile		238678214	Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015904	0.35606	.	.	ENSG00000144488	ENST00000343063;ENST00000409169	T;T	0.64085	-0.08;-0.08	4.84	4.84	0.62591	Ankyrin repeat-containing domain (3);	0.209205	0.30177	N	0.010237	T	0.42381	0.1200	N	0.12961	0.28	0.80722	D	1	B	0.29115	0.233	B	0.24394	0.053	T	0.39251	-0.9623	10	0.37606	T	0.19	-42.6716	11.0879	0.48097	0.0921:0.0:0.9079:0.0	.	222	Q6ZVH7	ESPNL_HUMAN	I	222	ENSP00000339115:V222I;ENSP00000386577:V222I	ENSP00000339115:V222I	V	+	1	0	ESPNL	238678214	1.000000	0.71417	0.987000	0.45799	0.154000	0.21943	4.115000	0.57865	2.246000	0.74042	0.462000	0.41574	GTC		0.667	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312	
C9orf66	157983	hgsc.bcm.edu	37	9	214864	214864	+	Missense_Mutation	SNP	C	C	T	rs2236547	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr9:214864C>T	ENST00000382387.2	-	1	1029	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	DOCK8_ENST00000432829.2_5'Flank|DOCK8_ENST00000453981.1_5'Flank	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	178			R -> Q (in dbSNP:rs2236547).							central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CAGCGCCGACCGACAGACGAG	0.692													T|||	1630	0.325479	0.326	0.3213	5008	,	,		11784	0.4117		0.2048	False		,,,				2504	0.363																0			9						T	GLN/ARG	1030,2672		136,758,957	20.0	17.0	18.0		533	3.5	0.4	9	dbSNP_98	18	1388,6106		127,1134,2486	yes	missense	C9orf66	NM_152569.2	43	263,1892,3443	TT,TC,CC		18.5215,27.8228,21.597	benign	178/296	214864	2418,8778	1851	3747	5598	204864	SO:0001583	missense	157983			AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.533G>A	9.37:g.214864C>T	ENSP00000371824:p.Arg178Gln		204864	Q96NB0	Missense_Mutation	SNP	ENST00000382387.2	37	CCDS6439.1	646	0.2957875457875458	174	0.35365853658536583	101	0.27900552486187846	211	0.3688811188811189	160	0.21108179419525067	.	9.102	1.004339	0.19199	0.278228	0.185215	ENSG00000183784	ENST00000382387	T	0.21031	2.03	4.63	3.46	0.39613	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.09310	P	0.999999999980934	B	0.02656	0.0	B	0.01281	0.0	T	0.45862	-0.9232	8	0.87932	D	0	.	4.0571	0.09821	0.18:0.1005:0.0:0.7195	rs2236547;rs2236547	178	Q5T8R8	CI066_HUMAN	Q	178	ENSP00000371824:R178Q	ENSP00000371824:R178Q	R	-	2	0	C9orf66	204864	0.139000	0.22563	0.407000	0.26434	0.054000	0.15201	0.094000	0.15107	0.146000	0.19002	-0.524000	0.04348	CGG		0.692	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	NM_152569	
MOB3B	79817	hgsc.bcm.edu	37	9	27455163	27455163	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr9:27455163A>G	ENST00000262244.5	-	2	810	c.386T>C	c.(385-387)aTc>aCc	p.I129T		NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B	129							metal ion binding (GO:0046872)										CTCGTTGTTGATCTGAACCTC	0.428																																																	0			9											107.0	98.0	101.0					9																	27455163		2203	4300	6503	27445163	SO:0001583	missense	79817			AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"""MOB kinase activators"""	23825	protein-coding gene	gene with protein product	"""monopolar spindle 1 binding, MOB1, domain containing"""		"""MOB1, Mps One Binder kinase activator-like 2B (yeast)"", ""chromosome 9 open reading frame 35"""	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.386T>C	9.37:g.27455163A>G	ENSP00000262244:p.Ile129Thr		27445163	Q8NEB4|Q9H8V4	Missense_Mutation	SNP	ENST00000262244.5	37	CCDS6520.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.113865	0.77210	.	.	ENSG00000120162	ENST00000262244	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.86091	0.5850	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.89636	0.3859	9	0.87932	D	0	-31.062	15.0387	0.71770	1.0:0.0:0.0:0.0	.	129	Q86TA1	MOB3B_HUMAN	T	129	.	ENSP00000262244:I129T	I	-	2	0	MOBKL2B	27445163	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.231000	0.72958	0.460000	0.39030	ATC		0.428	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051974.2	NM_024761	
TAF1L	138474	hgsc.bcm.edu	37	9	32635359	32635359	+	Silent	SNP	C	C	A	rs267602212		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr9:32635359C>A	ENST00000242310.4	-	1	308	c.219G>T	c.(217-219)ctG>ctT	p.L73L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	73					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.L73L(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTAGGCTGCCCAGCCCCAAAG	0.537																																																	2	Substitution - coding silent(2)	skin(2)	9											129.0	125.0	127.0					9																	32635359		2203	4300	6503	32625359	SO:0001819	synonymous_variant	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.219G>T	9.37:g.32635359C>A			32625359	Q0VG57	Silent	SNP	ENST00000242310.4	37	CCDS35003.1																																																																																				0.537	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
SPINK4	27290	hgsc.bcm.edu	37	9	33240219	33240219	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr9:33240219C>T	ENST00000379721.3	+	1	58	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	SPINK4_ENST00000379725.1_Intron|SPINK4_ENST00000379723.1_Intron	NM_014471.1	NP_055286.1	O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	5					response to drug (GO:0042493)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			GGCCGTCCGCCAGTGGGTAAT	0.592																																																	0			9											66.0	57.0	60.0					9																	33240219		2203	4300	6503	33230219	SO:0001587	stop_gained	27290			AF048700	CCDS6536.1	9p13.3	2011-08-31	2005-08-17		ENSG00000122711	ENSG00000122711		"""Serine peptidase inhibitors, Kazal type"""	16646	protein-coding gene	gene with protein product		613929	"""serine protease inhibitor, Kazal type 4"""			1400298, 17333166	Standard	NM_014471		Approved	PEC-60, MGC133107	uc003zsh.3	O60575	OTTHUMG00000019762	ENST00000379721.3:c.13C>T	9.37:g.33240219C>T	ENSP00000369045:p.Gln5*		33230219	Q2YDT7	Nonsense_Mutation	SNP	ENST00000379721.3	37	CCDS6536.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365448	0.41902	.	.	ENSG00000122711	ENST00000379721	.	.	.	4.26	3.36	0.38483	.	.	.	.	.	.	.	.	.	.	.	0.25991	N	0.982243	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	8.1905	0.31366	0.0:0.8923:0.0:0.1077	.	.	.	.	X	5	.	ENSP00000369045:Q5X	Q	+	1	0	SPINK4	33230219	0.313000	0.24554	0.075000	0.20258	0.006000	0.05464	1.563000	0.36364	1.394000	0.46624	0.462000	0.41574	CAG		0.592	SPINK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052035.1	NM_014471	
CNTNAP3	79937	hgsc.bcm.edu	37	9	39086820	39086820	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr9:39086820C>A	ENST00000297668.6	-	20	3320	c.3247G>T	c.(3247-3249)Gat>Tat	p.D1083Y	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.D1002Y|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.D995Y	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1083	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D1083H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGATGTCTATCTAGCTTGTAC	0.328																																																	1	Substitution - Missense(1)	ovary(1)	9											4.0	4.0	4.0					9																	39086820		1728	3625	5353	39076820	SO:0001583	missense	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.3247G>T	9.37:g.39086820C>A	ENSP00000297668:p.Asp1083Tyr		39076820	B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713666	0.30413	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144	T;T;T	0.79940	-1.32;-1.32;-1.32	2.73	1.82	0.25136	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.82861	0.5129	L	0.56769	1.78	0.80722	D	1	P;D;P	0.53462	0.947;0.96;0.828	P;P;P	0.57425	0.8;0.742;0.82	T	0.81531	-0.0890	9	0.87932	D	0	.	8.5714	0.33572	0.0:0.8769:0.0:0.1231	.	1083;1002;1083	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	Y	1083;1002;995	ENSP00000297668:D1083Y;ENSP00000366884:D1002Y;ENSP00000350863:D995Y	ENSP00000297668:D1083Y	D	-	1	0	CNTNAP3	39076820	1.000000	0.71417	0.304000	0.25085	0.724000	0.41520	1.167000	0.31847	0.486000	0.27676	0.306000	0.20318	GAT		0.328	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655	
RNF20	56254	hgsc.bcm.edu	37	9	104309423	104309423	+	Missense_Mutation	SNP	A	A	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr9:104309423A>T	ENST00000389120.3	+	8	989	c.899A>T	c.(898-900)aAt>aTt	p.N300I	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	300					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CTGTAGGTGAATTCCAAAGGT	0.403																																																	0			9											108.0	104.0	106.0					9																	104309423		2203	4300	6503	103349244	SO:0001583	missense	56254			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.899A>T	9.37:g.104309423A>T	ENSP00000373772:p.Asn300Ile		103349244	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	A	13.59	2.282935	0.40394	.	.	ENSG00000155827	ENST00000389120	T	0.29142	1.58	5.84	5.84	0.93424	.	0.087718	0.85682	D	0.000000	T	0.50497	0.1619	L	0.49126	1.545	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.47341	-0.9125	10	0.52906	T	0.07	-28.4988	15.8917	0.79303	1.0:0.0:0.0:0.0	.	300	Q5VTR2	BRE1A_HUMAN	I	300	ENSP00000373772:N300I	ENSP00000373772:N300I	N	+	2	0	RNF20	103349244	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	8.927000	0.92846	2.228000	0.72767	0.533000	0.62120	AAT		0.403	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592	
FKTN	2218	hgsc.bcm.edu	37	9	108370126	108370126	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr9:108370126A>G	ENST00000223528.2	+	6	798	c.674A>G	c.(673-675)gAt>gGt	p.D225G	FKTN_ENST00000357998.5_Missense_Mutation_p.D225G|FKTN_ENST00000602661.1_Missense_Mutation_p.D225G|FKTN_ENST00000448551.2_Missense_Mutation_p.D225G|FKTN_ENST00000540160.1_Missense_Mutation_p.D225G	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	225			D -> E (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GTTACTGTTGATGGACTGGAA	0.408																																																	0			9											122.0	120.0	121.0					9																	108370126		2203	4300	6503	107409947	SO:0001583	missense	2218				CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.674A>G	9.37:g.108370126A>G	ENSP00000223528:p.Asp225Gly		107409947	B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Missense_Mutation	SNP	ENST00000223528.2	37	CCDS6766.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.518417	0.85495	.	.	ENSG00000106692	ENST00000223528;ENST00000540160;ENST00000357998;ENST00000374705	D;D;D;D	0.94650	-3.11;-3.24;-3.48;-3.17	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.96787	0.8951	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.992	D	0.97340	0.9956	10	0.87932	D	0	.	14.9908	0.71387	1.0:0.0:0.0:0.0	.	225;225;225	B4E2W4;B4DUX9;O75072	.;.;FKTN_HUMAN	G	225;225;225;202	ENSP00000223528:D225G;ENSP00000439423:D225G;ENSP00000350687:D225G;ENSP00000363837:D202G	ENSP00000223528:D225G	D	+	2	0	FKTN	107409947	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.734000	0.84928	2.132000	0.65825	0.533000	0.62120	GAT		0.408	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731	
C9orf43	257169	hgsc.bcm.edu	37	9	116185755	116185755	+	Silent	SNP	G	G	A	rs141883275		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr9:116185755G>A	ENST00000288462.4	+	7	1079	c.633G>A	c.(631-633)gcG>gcA	p.A211A	C9orf43_ENST00000374165.1_Silent_p.A211A	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	211										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AATCCGAAGCGTTACCTCAGG	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		21052	0.0		0.001	False		,,,				2504	0.0																0			9						G		4,4402	8.1+/-20.4	0,4,2199	103.0	92.0	96.0		633	0.1	0.0	9	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C9orf43	NM_152786.1		0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384		211/462	116185755	5,13001	2203	4300	6503	115225576	SO:0001819	synonymous_variant	257169			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.633G>A	9.37:g.116185755G>A			115225576		Silent	SNP	ENST00000288462.4	37	CCDS6796.1																																																																																				0.502	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786	
CACNA1B	774	hgsc.bcm.edu	37	9	140952516	140952516	+	Silent	SNP	C	C	T	rs140374106	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr9:140952516C>T	ENST00000371372.1	+	28	4267	c.4122C>T	c.(4120-4122)tcC>tcT	p.S1374S	CACNA1B_ENST00000277549.5_Silent_p.S570S|CACNA1B_ENST00000277551.2_Silent_p.S1374S|CACNA1B_ENST00000371357.1_Silent_p.S1375S|CACNA1B_ENST00000371355.4_Silent_p.S1375S|CACNA1B_ENST00000371363.1_Silent_p.S1374S	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1374					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGAAACACTCCGTGGATGCCA	0.562													C|||	8	0.00159744	0.0	0.0	5008	,	,		22283	0.0079		0.0	False		,,,				2504	0.0																0			9											141.0	131.0	134.0					9																	140952516		2006	4190	6196	140072337	SO:0001819	synonymous_variant	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4122C>T	9.37:g.140952516C>T			140072337	B1AQK5	Silent	SNP	ENST00000371372.1	37	CCDS59522.1																																																																																				0.562	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
RB1	5925	hgsc.bcm.edu	37	13	49037904	49037904	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr13:49037904A>G	ENST00000267163.4	+	21	2282	c.2144A>G	c.(2143-2145)aAg>aGg	p.K715R		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	715	Domain B.|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.?(10)|p.I703_E737del(2)|p.C712_A727del(1)		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)"""	TGCAAAGTGAAGAATATAGAC	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"""	28	Whole gene deletion(15)|Unknown(10)|Deletion - In frame(3)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|ovary(1)|prostate(1)|liver(1)	13											108.0	114.0	112.0					13																	49037904		2203	4293	6496	47935905	SO:0001583	missense	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.2144A>G	13.37:g.49037904A>G	ENSP00000267163:p.Lys715Arg		47935905	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326729	0.81690	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.91237	-2.81	6.07	6.07	0.98685	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.92319	0.7563	M	0.62723	1.935	0.54753	D	0.999986	P	0.48911	0.917	P	0.54706	0.759	D	0.91611	0.5303	10	0.41790	T	0.15	-18.13	12.4026	0.55422	0.9333:0.0:0.0667:0.0	.	715	P06400	RB_HUMAN	R	694;715	ENSP00000267163:K715R	ENSP00000267163:K715R	K	+	2	0	RB1	47935905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.161000	0.77505	2.326000	0.78906	0.533000	0.62120	AAG		0.289	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
CCDC168	643677	hgsc.bcm.edu	37	13	103391476	103391476	+	5'Flank	SNP	A	A	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr13:103391476A>T	ENST00000322527.2	-	0	0					NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168																		GAGAAAGAATAGAAGCACAGA	0.363																																																	0			13											139.0	118.0	125.0					13																	103391476		692	1591	2283	102189477	SO:0001631	upstream_gene_variant	0				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287		13.37:g.103391476A>T	Exception_encountered		102189477	Q8N800	Silent	SNP	ENST00000322527.2	37																																																																																					0.363	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001146197	
CARKD	55739	hgsc.bcm.edu	37	13	111287085	111287085	+	Missense_Mutation	SNP	C	C	A	rs267603758		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr13:111287085C>A	ENST00000309957.2	+	7	627	c.613C>A	c.(613-615)Ccc>Acc	p.P205T	CARKD_ENST00000458711.2_Missense_Mutation_p.P74T|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000424185.2_Missense_Mutation_p.P95T|CARKD_ENST00000397191.4_3'UTR	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2			carbohydrate kinase domain containing									p.P205S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						TGTGCTCACTCCCAACCACGT	0.607																																																	1	Substitution - Missense(1)	skin(1)	13											73.0	60.0	64.0					13																	111287085		2203	4300	6503	110085086	SO:0001583	missense	55739			AF151071	CCDS9513.1, CCDS55903.1	13q34	2008-12-19			ENSG00000213995	ENSG00000213995			25576	protein-coding gene	gene with protein product		615910					Standard	NM_018210		Approved	LP3298, FLJ10769	uc001vrc.3	Q8IW45	OTTHUMG00000017345	ENST00000309957.2:c.613C>A	13.37:g.111287085C>A	ENSP00000311984:p.Pro205Thr		110085086		Missense_Mutation	SNP	ENST00000309957.2	37	CCDS9513.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631804	0.67015	.	.	ENSG00000213995	ENST00000458711;ENST00000424185;ENST00000439607;ENST00000309957	T;T;T	0.75050	-0.9;-0.9;-0.9	5.12	5.12	0.69794	Uncharacterised domain, carbohydrate kinase-related (3);	0.000000	0.85682	D	0.000000	D	0.91334	0.7267	H	0.97440	4.005	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	0.91635	0.997;0.999;0.998;0.999;0.998	D	0.94445	0.7662	10	0.87932	D	0	-34.7158	17.3438	0.87305	0.0:1.0:0.0:0.0	.	74;95;187;205;205	B4DQR1;Q8IW45-4;B4DKX7;Q8IW45-2;Q8IW45	.;.;.;.;CARKD_HUMAN	T	74;95;187;205	ENSP00000412789:P74T;ENSP00000413191:P95T;ENSP00000311984:P205T	ENSP00000311984:P205T	P	+	1	0	CARKD	110085086	1.000000	0.71417	0.942000	0.38095	0.199000	0.23934	7.093000	0.76937	2.360000	0.80028	0.655000	0.94253	CCC		0.607	CARKD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045764.1	NM_018210	
CHAMP1	283489	hgsc.bcm.edu	37	13	115090658	115090658	+	Silent	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr13:115090658T>C	ENST00000361283.1	+	3	1650	c.1341T>C	c.(1339-1341)gaT>gaC	p.D447D		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	447	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.D447D(1)									GGTCACCAGATCTTTGGAAGC	0.532																																																	1	Substitution - coding silent(1)	ovary(1)	13											112.0	129.0	123.0					13																	115090658		2203	4300	6503	114108760	SO:0001819	synonymous_variant	283489			AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1341T>C	13.37:g.115090658T>C			114108760	B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP	ENST00000361283.1	37	CCDS9545.1																																																																																				0.532	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436	
BEND7	222389	hgsc.bcm.edu	37	10	13481451	13481451	+	Silent	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr10:13481451C>T	ENST00000396900.2	-	9	1280	c.1281G>A	c.(1279-1281)gcG>gcA	p.A427A	BEND7_ENST00000341083.3_Silent_p.A376A|BEND7_ENST00000486542.1_5'UTR			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	427						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CTAGGGTCACCGCTGCACTCC	0.532																																																	0			10											78.0	67.0	71.0					10																	13481451		2203	4300	6503	13521457	SO:0001819	synonymous_variant	222389			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.1281G>A	10.37:g.13481451C>T			13521457	Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Silent	SNP	ENST00000396900.2	37																																																																																					0.532	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751	
CUBN	8029	hgsc.bcm.edu	37	10	17145126	17145126	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr10:17145126T>C	ENST00000377833.4	-	13	1593	c.1528A>G	c.(1528-1530)Aag>Gag	p.K510E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	510	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACATTTACCTTTCCCATTTCA	0.333																																																	0			10											88.0	85.0	86.0					10																	17145126		2203	4300	6503	17185132	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1528A>G	10.37:g.17145126T>C	ENSP00000367064:p.Lys510Glu		17185132	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	15.68	2.904797	0.52333	.	.	ENSG00000107611	ENST00000377833	T	0.59364	0.27	5.65	4.5	0.54988	CUB (5);	0.000000	0.46758	D	0.000263	T	0.71417	0.3337	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.70945	-0.4734	10	0.45353	T	0.12	.	12.8579	0.57897	0.0:0.0:0.1363:0.8637	.	510	O60494	CUBN_HUMAN	E	510	ENSP00000367064:K510E	ENSP00000367064:K510E	K	-	1	0	CUBN	17185132	1.000000	0.71417	0.993000	0.49108	0.186000	0.23388	4.417000	0.59822	0.955000	0.37878	0.528000	0.53228	AAG		0.333	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
MYO3A	53904	hgsc.bcm.edu	37	10	26446312	26446312	+	Missense_Mutation	SNP	G	G	A	rs3758449	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr10:26446312G>A	ENST00000265944.5	+	26	3033	c.2867G>A	c.(2866-2868)aGt>aAt	p.S956N	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	956	Myosin motor.		S -> N (in dbSNP:rs3758449). {ECO:0000269|PubMed:17344846}.|S -> R (in an ovarian serous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S956N(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAACCAAATAGTGAGCGTCAG	0.393													A|||	2280	0.455272	0.4304	0.451	5008	,	,		15843	0.3552		0.5646	False		,,,				2504	0.4826																1	Substitution - Missense(1)	stomach(1)	10						A	ASN/SER	2054,2352	608.8+/-391.2	487,1080,636	140.0	133.0	135.0		2867	4.2	1.0	10	dbSNP_107	135	4723,3877	543.7+/-384.4	1325,2073,902	yes	missense	MYO3A	NM_017433.4	46	1812,3153,1538	AA,AG,GG		45.0814,46.6182,47.8933	benign	956/1617	26446312	6777,6229	2203	4300	6503	26486318	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2867G>A	10.37:g.26446312G>A	ENSP00000265944:p.Ser956Asn		26486318	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	1001	0.4583333333333333	198	0.4024390243902439	154	0.425414364640884	217	0.3793706293706294	432	0.5699208443271768	A	6.877	0.531306	0.13127	0.466182	0.549186	ENSG00000095777	ENST00000265944	T	0.71341	-0.56	5.31	4.17	0.49024	Myosin head, motor domain (2);	0.041772	0.85682	N	0.000000	T	0.00012	0.0000	N	0.02412	-0.56	0.09310	P	1.0	B	0.02656	0.0	B	0.04013	0.001	T	0.41592	-0.9500	9	0.07175	T	0.84	.	9.5203	0.39131	0.8561:0.0:0.1439:0.0	rs3758449;rs17666875;rs56712933;rs3758449	956	Q8NEV4	MYO3A_HUMAN	N	956	ENSP00000265944:S956N	ENSP00000265944:S956N	S	+	2	0	MYO3A	26486318	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.327000	0.65881	0.961000	0.38030	-0.254000	0.11334	AGT		0.393	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
ANKRD26	22852	hgsc.bcm.edu	37	10	27303581	27303581	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr10:27303581C>T	ENST00000376087.4	-	31	4731	c.4566G>A	c.(4564-4566)atG>atA	p.M1522I	ANKRD26_ENST00000376070.3_Missense_Mutation_p.M1079I|ANKRD26_ENST00000436985.2_Missense_Mutation_p.M1538I	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1521				NNFASMK -> KQDLPDS (in Ref. 3; BAC87508). {ECO:0000305}.	glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCTGACTTTTCATTGAAGCAA	0.294																																																	0			10											59.0	53.0	55.0					10																	27303581		1796	4067	5863	27343587	SO:0001583	missense	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4566G>A	10.37:g.27303581C>T	ENSP00000365255:p.Met1522Ile		27343587	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	CCDS41499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.730|0.730	-0.780231|-0.780231	0.02929|0.02929	.|.	.|.	ENSG00000107890|ENSG00000107890	ENST00000445828|ENST00000376070;ENST00000376087;ENST00000436985	.|T;T;T	.|0.29397	.|1.57;1.57;1.57	5.27|5.27	-6.17|-6.17	0.02091|0.02091	.|.	.|0.918054	.|0.09030	.|N	.|0.858881	T|T	0.07279|0.07279	0.0184|0.0184	N|N	0.01228|0.01228	-0.945|-0.945	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.06405	.|0.0;0.001;0.002	T|T	0.32481|0.32481	-0.9905|-0.9905	5|10	.|0.16420	.|T	.|0.52	.|.	4.1005|4.1005	0.10012|0.10012	0.124:0.4662:0.1197:0.2901|0.124:0.4662:0.1197:0.2901	.|.	.|1522;1521;1538	.|Q9UPS8-3;Q9UPS8;A1L497	.|.;ANR26_HUMAN;.	K|I	10|1079;1522;1538	.|ENSP00000365238:M1079I;ENSP00000365255:M1522I;ENSP00000405112:M1538I	.|ENSP00000365238:M1079I	E|M	-|-	1|3	0|0	ANKRD26|ANKRD26	27343587|27343587	0.068000|0.068000	0.21057|0.21057	0.026000|0.026000	0.17262|0.17262	0.877000|0.877000	0.50540|0.50540	-0.789000|-0.789000	0.04609|0.04609	-1.072000|-1.072000	0.03141|0.03141	0.313000|0.313000	0.20887|0.20887	GAA|ATG		0.294	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		
KIF5B	3799	hgsc.bcm.edu	37	10	32306152	32306152	+	Missense_Mutation	SNP	G	G	A	rs141491660	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr10:32306152G>A	ENST00000302418.4	-	24	3137	c.2680C>T	c.(2680-2682)Cgc>Tgc	p.R894C	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	894					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TGCTGATAGCGTTTGCGATCA	0.428			T	"""RET, ALK"""	NSCLC																																			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0			10						G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	309.0	271.0	284.0		2680	5.6	1.0	10	dbSNP_134	284	0,8600		0,0,4300	no	missense	KIF5B	NM_004521.2	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	894/964	32306152	2,13004	2203	4300	6503	32346158	SO:0001583	missense	3799			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2680C>T	10.37:g.32306152G>A	ENSP00000307078:p.Arg894Cys		32346158	A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319353	0.95682	4.54E-4	0.0	ENSG00000170759	ENST00000302418	T	0.78003	-1.14	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.89448	0.6718	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.90432	0.4425	10	0.87932	D	0	.	19.5519	0.95324	0.0:0.0:1.0:0.0	.	894	P33176	KINH_HUMAN	C	894	ENSP00000307078:R894C	ENSP00000307078:R894C	R	-	1	0	KIF5B	32346158	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.776000	0.99001	2.623000	0.88846	0.467000	0.42956	CGC		0.428	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521	
SEC24C	9632	hgsc.bcm.edu	37	10	75506596	75506596	+	Silent	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr10:75506596C>T	ENST00000339365.2	+	3	168	c.6C>T	c.(4-6)aaC>aaT	p.N2N	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000411652.2_5'UTR|SEC24C_ENST00000345254.4_Silent_p.N2N	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	2					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TCATAATGAACGTCAACCAGT	0.483																																																	0			10											101.0	94.0	96.0					10																	75506596		2203	4300	6503	75176602	SO:0001819	synonymous_variant	9632			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.6C>T	10.37:g.75506596C>T			75176602	B4DZT4|Q8WV25	Silent	SNP	ENST00000339365.2	37	CCDS7332.1																																																																																				0.483	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1		
PTEN	5728	hgsc.bcm.edu	37	10	89717733	89717733	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr10:89717733T>C	ENST00000371953.3	+	7	2115	c.758T>C	c.(757-759)aTc>aCc	p.I253T	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	253	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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.R55fs*1(5)|p.I253N(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.D252_K263>AKE(1)|p.I253fs*3(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)		TGTGGTGATATCAAAGTAGAG	0.388		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"""	52	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Missense(2)|Deletion - In frame(1)|Complex - frameshift(1)|Complex - deletion inframe(1)|Unknown(1)	prostate(16)|central_nervous_system(11)|skin(7)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)	10											117.0	103.0	108.0					10																	89717733		2203	4300	6503	89707713	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.758T>C	10.37:g.89717733T>C	ENSP00000361021:p.Ile253Thr		89707713	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.520932	0.85495	.	.	ENSG00000171862	ENST00000371953	D	0.89123	-2.47	5.15	5.15	0.70609	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.93314	0.7869	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93157	0.6554	9	.	.	.	-2.4401	14.9657	0.71193	0.0:0.0:0.0:1.0	.	253	P60484	PTEN_HUMAN	T	253	ENSP00000361021:I253T	.	I	+	2	0	PTEN	89707713	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.661000	0.83786	1.928000	0.55862	0.477000	0.44152	ATC		0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	hgsc.bcm.edu	37	10	89720722	89720722	+	Silent	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr10:89720722A>G	ENST00000371953.3	+	8	2230	c.873A>G	c.(871-873)gaA>gaG	p.E291E	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	291	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(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)		AAAAAGTAGAAAATGGAAGTC	0.313		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"""	50	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(2)|Unknown(2)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	10											68.0	70.0	69.0					10																	89720722		2203	4297	6500	89710702	SO:0001819	synonymous_variant	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.873A>G	10.37:g.89720722A>G			89710702	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Silent	SNP	ENST00000371953.3	37	CCDS31238.1																																																																																				0.313	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
NFKB2	4791	hgsc.bcm.edu	37	10	104161814	104161814	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr10:104161814G>A	ENST00000369966.3	+	22	2726	c.2476G>A	c.(2476-2478)Ggg>Agg	p.G826R	NFKB2_ENST00000428099.1_Missense_Mutation_p.G826R|NFKB2_ENST00000189444.6_Missense_Mutation_p.G826R	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	826	Death.		Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT).		extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	GCTGGCTGGCGGGGACCTGGC	0.627			T	IGH@	B-NHL																																			Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	0			10																																								104151804	SO:0001583	missense	4791			X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.2476G>A	10.37:g.104161814G>A	ENSP00000358983:p.Gly826Arg		104151804	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	g	16.94	3.260785	0.59431	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	D;D;D	0.86230	-2.09;-2.09;-2.09	3.79	3.79	0.43588	Death (2);DEATH-like (2);	0.065685	0.64402	D	0.000016	D	0.92502	0.7619	M	0.70595	2.14	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93555	0.6890	10	0.72032	D	0.01	.	15.832	0.78760	0.0:0.0:1.0:0.0	.	826;826	Q00653;A8K9D9	NFKB2_HUMAN;.	R	826	ENSP00000410256:G826R;ENSP00000358983:G826R;ENSP00000189444:G826R	ENSP00000189444:G826R	G	+	1	0	NFKB2	104151804	1.000000	0.71417	0.997000	0.53966	0.039000	0.13416	8.489000	0.90461	2.105000	0.64084	0.556000	0.70494	GGG		0.627	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2		
DOCK1	1793	hgsc.bcm.edu	37	10	129209180	129209180	+	Missense_Mutation	SNP	G	G	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr10:129209180G>C	ENST00000280333.6	+	43	4466	c.4357G>C	c.(4357-4359)Gaa>Caa	p.E1453Q		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1453	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CCCAGACAATGAATTTGCGGT	0.448																																																	0			10											50.0	50.0	50.0					10																	129209180		1885	4108	5993	129099170	SO:0001583	missense	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4357G>C	10.37:g.129209180G>C	ENSP00000280333:p.Glu1453Gln		129099170	A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37		.	.	.	.	.	.	.	.	.	.	G	29.3	4.997365	0.93227	.	.	ENSG00000150760	ENST00000280333	T	0.19105	2.17	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.54631	0.1870	M	0.88031	2.925	0.80722	D	1	D;D;P	0.69078	0.96;0.997;0.954	P;D;P	0.75484	0.812;0.986;0.812	T	0.64512	-0.6390	10	0.87932	D	0	.	18.3037	0.90172	0.0:0.0:1.0:0.0	.	1453;1519;1453	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	Q	1453	ENSP00000280333:E1453Q	ENSP00000280333:E1453Q	E	+	1	0	DOCK1	129099170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.314000	0.96306	2.546000	0.85860	0.655000	0.94253	GAA		0.448	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380	
IRX1	79192	hgsc.bcm.edu	37	5	3599862	3599862	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr5:3599862C>T	ENST00000302006.3	+	2	852	c.800C>T	c.(799-801)tCg>tTg	p.S267L	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	267					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GACCAAGGCTCGCCGCTGGCA	0.711																																																	0			5											11.0	14.0	13.0					5																	3599862		2185	4283	6468	3652862	SO:0001583	missense	79192			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.800C>T	5.37:g.3599862C>T	ENSP00000305244:p.Ser267Leu		3652862	Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	3.892	-0.023880	0.07634	.	.	ENSG00000170549	ENST00000302006	T	0.59364	0.27	3.98	3.0	0.34707	.	1.005700	0.07985	N	0.986191	T	0.23727	0.0574	N	0.00926	-1.1	0.26542	N	0.974068	B	0.09022	0.002	B	0.04013	0.001	T	0.22977	-1.0201	10	0.21014	T	0.42	.	3.2582	0.06839	0.0:0.5933:0.0:0.4067	.	267	P78414	IRX1_HUMAN	L	267	ENSP00000305244:S267L	ENSP00000305244:S267L	S	+	2	0	IRX1	3652862	0.994000	0.37717	0.962000	0.40283	0.371000	0.29859	1.874000	0.39568	2.012000	0.59069	0.655000	0.94253	TCG		0.711	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337	
LIX1	167410	hgsc.bcm.edu	37	5	96430636	96430636	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr5:96430636G>A	ENST00000274382.4	-	6	960	c.665C>T	c.(664-666)tCt>tTt	p.S222F	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	222										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TAGCTCTTGAGAGACAATTCC	0.473																																																	0			5											101.0	106.0	104.0					5																	96430636		2203	4300	6503	96456392	SO:0001583	missense	167410				CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"""chromosome 5 open reading frame 11"", ""Lix1 homolog (mouse)"""	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.665C>T	5.37:g.96430636G>A	ENSP00000274382:p.Ser222Phe		96456392	A8K4R9|Q8N7I2	Missense_Mutation	SNP	ENST00000274382.4	37	CCDS4088.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230003	0.79688	.	.	ENSG00000145721	ENST00000274382	T	0.48201	0.82	5.82	5.82	0.92795	.	0.101987	0.64402	D	0.000002	T	0.55000	0.1893	L	0.58101	1.795	0.53005	D	0.999963	P	0.39883	0.693	B	0.43783	0.431	T	0.57130	-0.7864	10	0.72032	D	0.01	-10.0461	19.6941	0.96016	0.0:0.0:1.0:0.0	.	222	Q8N485	LIX1_HUMAN	F	222	ENSP00000274382:S222F	ENSP00000274382:S222F	S	-	2	0	LIX1	96456392	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	3.459000	0.53021	2.752000	0.94435	0.655000	0.94253	TCT		0.473	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250625.1	NM_153234	
APC	324	hgsc.bcm.edu	37	5	112173497	112173497	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr5:112173497A>G	ENST00000457016.1	+	16	2586	c.2206A>G	c.(2206-2208)Aag>Gag	p.K736E	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.K736E|APC_ENST00000257430.4_Missense_Mutation_p.K736E			P25054	APC_HUMAN	adenomatous polyposis coli	736	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.K736*(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TAGGCCTGCGAAGTACAAGGA	0.433		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"""	2	Substitution - Nonsense(1)|Unknown(1)	large_intestine(1)|skin(1)	5											75.0	66.0	69.0					5																	112173497		2202	4300	6502	112201396	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.2206A>G	5.37:g.112173497A>G	ENSP00000413133:p.Lys736Glu		112201396	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.676730	0.47886	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	T;T;T;T;T	0.62639	0.01;0.97;0.01;0.01;0.97	6.17	5.0	0.66597	Armadillo-like helical (1);Armadillo-type fold (1);	0.150088	0.56097	D	0.000025	T	0.68183	0.2973	M	0.74881	2.28	0.48087	D	0.999588	P;P	0.47545	0.897;0.897	P;P	0.47075	0.536;0.536	T	0.70532	-0.4846	10	0.51188	T	0.08	-18.4837	13.612	0.62086	0.8705:0.1295:0.0:0.0	.	738;736	Q4LE70;P25054	.;APC_HUMAN	E	736;718;736;736;736	ENSP00000413133:K736E;ENSP00000423224:K718E;ENSP00000257430:K736E;ENSP00000427089:K736E;ENSP00000423828:K736E	ENSP00000257430:K736E	K	+	1	0	APC	112201396	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.576000	0.67437	1.123000	0.41961	0.533000	0.62120	AAG		0.433	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
SPOCK1	6695	hgsc.bcm.edu	37	5	136328277	136328277	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr5:136328277T>C	ENST00000394945.1	-	7	771	c.602A>G	c.(601-603)aAg>aGg	p.K201R	SPOCK1_ENST00000282223.7_Missense_Mutation_p.K201R	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	201					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCGCAACTCCTTGTCTGTGCA	0.552																																																	0			5											107.0	100.0	102.0					5																	136328277		2203	4300	6503	136356176	SO:0001583	missense	6695			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.602A>G	5.37:g.136328277T>C	ENSP00000378401:p.Lys201Arg		136356176	B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	ENST00000394945.1	37	CCDS4191.1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.255156	0.39896	.	.	ENSG00000152377	ENST00000394945;ENST00000282223;ENST00000510689	T;T;T	0.45668	0.89;0.89;0.92	5.89	5.89	0.94794	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.266401	0.37304	N	0.002153	T	0.22975	0.0555	N	0.12182	0.205	0.36891	D	0.889882	B	0.30634	0.288	B	0.26416	0.069	T	0.27938	-1.0059	10	0.24483	T	0.36	.	9.9004	0.41344	0.0:0.0754:0.0:0.9246	.	201	Q08629	TICN1_HUMAN	R	201;201;56	ENSP00000378401:K201R;ENSP00000282223:K201R;ENSP00000421677:K56R	ENSP00000282223:K201R	K	-	2	0	SPOCK1	136356176	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.901000	0.56303	2.254000	0.74563	0.533000	0.62120	AAG		0.552	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598	
SLC23A1	9963	hgsc.bcm.edu	37	5	138718225	138718225	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr5:138718225C>T	ENST00000348729.3	-	2	152	c.106G>A	c.(106-108)Gag>Aag	p.E36K	SLC23A1_ENST00000503919.1_5'UTR|SLC23A1_ENST00000353963.3_Missense_Mutation_p.E36K	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	36					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GGCACGTCCTCGATCTTGTAC	0.612																																																	0			5											140.0	115.0	124.0					5																	138718225		2203	4300	6503	138746124	SO:0001583	missense	9963			AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"""Solute carriers"""	10974	protein-coding gene	gene with protein product		603790	"""solute carrier family 23 (nucleobase transporters), member 2"""	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.106G>A	5.37:g.138718225C>T	ENSP00000302701:p.Glu36Lys		138746124	O95191|Q8WWB6|Q9UGH4|Q9UI39	Missense_Mutation	SNP	ENST00000348729.3	37	CCDS4212.1	.	.	.	.	.	.	.	.	.	.	C	33	5.223886	0.95139	.	.	ENSG00000170482	ENST00000353963;ENST00000348729;ENST00000339881;ENST00000453898;ENST00000508270	T;T	0.18657	2.21;2.2	4.68	4.68	0.58851	.	0.050461	0.85682	D	0.000000	T	0.24198	0.0586	N	0.08118	0	0.80722	D	1	D;D	0.61697	0.99;0.971	P;P	0.59761	0.863;0.576	T	0.29119	-1.0022	10	0.87932	D	0	-0.0446	16.5757	0.84637	0.0:1.0:0.0:0.0	.	36;36	Q9UHI7;Q9UHI7-2	S23A1_HUMAN;.	K	36;36;36;36;110	ENSP00000302851:E36K;ENSP00000302701:E36K	ENSP00000343584:E36K	E	-	1	0	SLC23A1	138746124	1.000000	0.71417	0.941000	0.38009	0.834000	0.47266	7.459000	0.80802	2.437000	0.82529	0.456000	0.33151	GAG		0.612	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685	
PCDHA6	56142	hgsc.bcm.edu	37	5	140209305	140209305	+	Silent	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr5:140209305G>A	ENST00000529310.1	+	1	1743	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	543	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)	p.P543P(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGTGCCGCCTCTGGGCA	0.692																																																	2	Substitution - coding silent(2)	lung(2)	5											60.0	69.0	66.0					5																	140209305		2201	4298	6499	140189489	SO:0001819	synonymous_variant	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1629G>A	5.37:g.140209305G>A			140189489	O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	CCDS47281.1																																																																																				0.692	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909	
PCDHA6	56142	hgsc.bcm.edu	37	5	140209489	140209489	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr5:140209489G>A	ENST00000529310.1	+	1	1927	c.1813G>A	c.(1813-1815)Gcg>Acg	p.A605T	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	605	Cadherin 6. {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(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCTACAACGCGTGGCTTTC	0.652																																																	0			5											83.0	84.0	84.0					5																	140209489		2203	4300	6503	140189673	SO:0001583	missense	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1813G>A	5.37:g.140209489G>A	ENSP00000433378:p.Ala605Thr		140189673	O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073736	0.55646	.	.	ENSG00000081842	ENST00000529310	T	0.40225	1.04	3.87	3.87	0.44632	Cadherin (4);Cadherin-like (1);	0.000000	0.36444	U	0.002584	T	0.72843	0.3511	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	T	0.81590	-0.0863	10	0.87932	D	0	.	13.1052	0.59244	0.0:0.0:0.8393:0.1607	.	605;605	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	T	605	ENSP00000433378:A605T	ENSP00000433378:A605T	A	+	1	0	PCDHA6	140189673	0.999000	0.42202	1.000000	0.80357	0.194000	0.23727	5.654000	0.67974	2.158000	0.67659	0.306000	0.20318	GCG		0.652	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909	
PCDHA11	56138	hgsc.bcm.edu	37	5	140250875	140250875	+	Silent	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr5:140250875C>T	ENST00000398640.2	+	1	2187	c.2187C>T	c.(2185-2187)ggC>ggT	p.G729G	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	729					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTGAGGGCGCGTGCGCGC	0.677																																																	0			5											31.0	32.0	32.0					5																	140250875		2203	4299	6502	140231059	SO:0001819	synonymous_variant	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.2187C>T	5.37:g.140250875C>T			140231059	B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	CCDS47284.1																																																																																				0.677	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902	
CCDC69	26112	hgsc.bcm.edu	37	5	150585026	150585026	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr5:150585026T>C	ENST00000355417.2	-	2	233	c.59A>G	c.(58-60)gAa>gGa	p.E20G	CCDC69_ENST00000521308.1_Intron	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	20										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTTCTGGTTCTTGGCGCTT	0.572																																																	0			5											169.0	152.0	158.0					5																	150585026		2203	4300	6503	150565219	SO:0001583	missense	26112				CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.59A>G	5.37:g.150585026T>C	ENSP00000347586:p.Glu20Gly		150565219	A8K9X6	Missense_Mutation	SNP	ENST00000355417.2	37	CCDS4312.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326242	0.41197	.	.	ENSG00000198624	ENST00000355417	T	0.24151	1.87	4.32	3.16	0.36331	.	1.077990	0.07209	N	0.858869	T	0.14013	0.0339	N	0.08118	0	0.21256	N	0.999746	B	0.34290	0.447	B	0.33254	0.16	T	0.24621	-1.0155	10	0.52906	T	0.07	-1.8048	6.2558	0.20874	0.0:0.1135:0.0:0.8865	.	20	A6NI79	CCD69_HUMAN	G	20	ENSP00000347586:E20G	ENSP00000347586:E20G	E	-	2	0	CCDC69	150565219	0.931000	0.31567	0.883000	0.34634	0.804000	0.45430	0.858000	0.27845	0.705000	0.31890	0.454000	0.30748	GAA		0.572	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	NM_015621	
FAT2	2196	hgsc.bcm.edu	37	5	150921910	150921910	+	Silent	SNP	C	C	T	rs374640362		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr5:150921910C>T	ENST00000261800.5	-	9	8790	c.8778G>A	c.(8776-8778)gcG>gcA	p.A2926A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2926	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A2926A(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTTTAGAGTCGCCACCAGTT	0.502																																																	1	Substitution - coding silent(1)	lung(1)	5						C		0,4406		0,0,2203	149.0	145.0	146.0		8778	-1.5	0.0	5		146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAT2	NM_001447.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2926/4350	150921910	1,13005	2203	4300	6503	150902103	SO:0001819	synonymous_variant	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8778G>A	5.37:g.150921910C>T			150902103	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																				0.502	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAM71B	153745	hgsc.bcm.edu	37	5	156590186	156590186	+	Missense_Mutation	SNP	C	C	T	rs148867837		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr5:156590186C>T	ENST00000302938.4	-	2	1185	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	364						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGAGACTGGCGGCCCCCGCC	0.582																																																	0			5											32.0	36.0	35.0					5																	156590186		2203	4300	6503	156522764	SO:0001583	missense	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1090G>A	5.37:g.156590186C>T	ENSP00000305596:p.Ala364Thr		156522764	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.560909	0.00910	.	.	ENSG00000170613	ENST00000302938	T	0.03801	3.8	3.83	-7.65	0.01281	.	1.936930	0.02643	N	0.105505	T	0.02970	0.0088	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.38866	-0.9641	10	0.15499	T	0.54	-0.1102	4.9439	0.13980	0.314:0.245:0.0:0.441	.	364	Q8TC56	FA71B_HUMAN	T	364	ENSP00000305596:A364T	ENSP00000305596:A364T	A	-	1	0	FAM71B	156522764	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.675000	0.01947	-2.565000	0.00471	-2.630000	0.00154	GCC		0.582	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
DBN1	1627	hgsc.bcm.edu	37	5	176884466	176884466	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr5:176884466C>T	ENST00000309007.5	-	14	2137	c.1918G>A	c.(1918-1920)Gaa>Aaa	p.E640K	DBN1_ENST00000393563.4_Missense_Mutation_p.E372K|DBN1_ENST00000393565.1_Missense_Mutation_p.E686K|DBN1_ENST00000292385.5_Missense_Mutation_p.E642K|DBN1_ENST00000512501.1_3'UTR	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	640			E -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.E640Q(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTCCTCTTCTGGAACTGGG	0.617											OREG0016462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	breast(1)	5											141.0	123.0	129.0					5																	176884466		2203	4300	6503	176817072	SO:0001583	missense	1627				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1918G>A	5.37:g.176884466C>T	ENSP00000308532:p.Glu640Lys	1934	176817072	A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170877	0.57584	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000393563	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	4.75	3.88	0.44766	.	0.108327	0.64402	N	0.000009	D	0.89508	0.6735	L	0.27053	0.805	0.42732	D	0.993717	B;B;B	0.23891	0.093;0.006;0.01	B;B;B	0.23018	0.043;0.007;0.016	D	0.86838	0.2015	10	0.66056	D	0.02	-13.0301	11.8685	0.52507	0.0:0.9129:0.0:0.0871	.	590;640;642	B3KSQ7;Q16643;Q16643-2	.;DREB_HUMAN;.	K	640;642;686;372	ENSP00000308532:E640K;ENSP00000292385:E642K;ENSP00000377195:E686K;ENSP00000377193:E372K	ENSP00000292385:E642K	E	-	1	0	DBN1	176817072	0.991000	0.36638	0.789000	0.31954	0.961000	0.63080	3.003000	0.49505	1.216000	0.43427	0.561000	0.74099	GAA		0.617	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881	
ITGB2	3689	hgsc.bcm.edu	37	21	46320234	46320234	+	Splice_Site	SNP	C	C	T	rs201752283		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr21:46320234C>T	ENST00000397850.2	-	8	1350		c.e8+1		ITGB2_ENST00000397857.1_Splice_Site|ITGB2_ENST00000397854.3_Splice_Site|ITGB2_ENST00000397852.1_Splice_Site|ITGB2_ENST00000355153.4_Splice_Site|ITGB2_ENST00000302347.5_Splice_Site			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.?(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGGGGACTTACGAATTCGTTG	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16834	0.0		0.0	False		,,,				2504	0.0																1	Unknown(1)	central_nervous_system(1)	21	GRCh37	CS920765	ITGB2	S							116.0	92.0	100.0					21																	46320234		2203	4300	6503	45144662	SO:0001630	splice_region_variant	3689			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.897+1G>A	21.37:g.46320234C>T			45144662	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Splice_Site	SNP	ENST00000397850.2	37	CCDS13716.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.19	1.864750	0.32977	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000545414;ENST00000320216	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5843	0.76470	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGB2	45144662	1.000000	0.71417	0.779000	0.31741	0.008000	0.06430	7.108000	0.77055	2.546000	0.85860	0.591000	0.81541	.		0.632	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211	Intron
ROCK2	9475	hgsc.bcm.edu	37	2	11355647	11355647	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:11355647delA	ENST00000315872.6	-	14	2034	c.1586delT	c.(1585-1587)ttgfs	p.L529fs	ROCK2_ENST00000401753.1_Frame_Shift_Del_p.L286fs	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	529	Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ATCATTTTCCAAATTTCGTTT	0.343																																																	0			2											115.0	112.0	113.0					2																	11355647		1817	4087	5904	11273098	SO:0001589	frameshift_variant	9475			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.1586delT	2.37:g.11355647delA	ENSP00000317985:p.Leu529fs		11273098	Q53QZ0|Q53SJ7|Q9UQN5	Frame_Shift_Del	DEL	ENST00000315872.6	37	CCDS42654.1																																																																																				0.343	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3		
USP34	9736	hgsc.bcm.edu	37	2	61577702	61577702	+	Splice_Site	SNP	C	C	T			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr2:61577702C>T	ENST00000398571.2	-	11	1454		c.e11+1			NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34						positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GAATGTATTACCTGTTCAGTA	0.338																																																	0			2											95.0	88.0	90.0					2																	61577702		1833	4080	5913	61431206	SO:0001630	splice_region_variant	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1377+1G>A	2.37:g.61577702C>T			61431206	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Splice_Site	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118166	0.94385	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9697	0.97280	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP34	61431206	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.818000	0.86416	2.807000	0.96579	0.591000	0.81541	.		0.338	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		Intron
FAT1	2195	hgsc.bcm.edu	37	4	187560893	187560893	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr4:187560893delC	ENST00000441802.2	-	4	3834	c.3625delG	c.(3625-3627)gatfs	p.D1209fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1209	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGTGTTCATCTTGCTGTTCT	0.323										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0			4											144.0	143.0	143.0					4																	187560893		1838	4097	5935	187797887	SO:0001589	frameshift_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3625delG	4.37:g.187560893delC	ENSP00000406229:p.Asp1209fs		187797887		Frame_Shift_Del	DEL	ENST00000441802.2	37	CCDS47177.1																																																																																				0.323	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
APC	324	hgsc.bcm.edu	37	5	112128184	112128188	+	Frame_Shift_Del	DEL	TCGTA	TCGTA	-	rs587779805|rs587780545		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	TCGTA	TCGTA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr5:112128184_112128188delTCGTA	ENST00000457016.1	+	7	1067_1071	c.687_691delTCGTA	c.(685-693)cttcgtatafs	p.RI230fs	APC_ENST00000508376.2_Frame_Shift_Del_p.RI230fs|APC_ENST00000257430.4_Frame_Shift_Del_p.RI230fs			P25054	APC_HUMAN	adenomatous polyposis coli	230	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)			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)		AGGACATACTTCGTATACGACAGCT	0.302		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"""	0			5	GRCh37	CD023229	APC	D																																				112156087	SO:0001589	frameshift_variant	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.687_691delTCGTA	5.37:g.112128184_112128188delTCGTA	ENSP00000413133:p.Arg230fs		112156083	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				0.302	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
KDM3B	51780	hgsc.bcm.edu	37	5	137726985	137726985	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr5:137726985delA	ENST00000314358.5	+	8	1864	c.1664delA	c.(1663-1665)gacfs	p.D555fs	KDM3B_ENST00000394866.1_Frame_Shift_Del_p.D211fs|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	555					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TCTAGTCGGGACTCATTCAAA	0.453																																																	0			5											76.0	75.0	75.0					5																	137726985		2203	4300	6503	137754884	SO:0001589	frameshift_variant	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1664delA	5.37:g.137726985delA	ENSP00000326563:p.Asp555fs		137754884	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Frame_Shift_Del	DEL	ENST00000314358.5	37	CCDS34242.1																																																																																				0.453	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604	
EYS	346007	hgsc.bcm.edu	37	6	65016978	65016979	+	Intron	DEL	GA	GA	-	rs35395170|rs60972590|rs66811225	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	GA	GA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr6:65016978_65016979delGA	ENST00000370621.3	-	30	6605				EYS_ENST00000503581.1_Intron|EYS_ENST00000370616.2_Intron			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)						detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACAGGCATCTgagagagagaga	0.361														3376	0.674121	0.6967	0.6758	5008	,	,		18287	0.5179		0.7217	False		,,,				2504	0.7546																0			6																																								65074938	SO:0001627	intron_variant	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.6079-3TC>-	6.37:g.65016988_65016989delGA			65074937	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Frame_Shift_Del	DEL	ENST00000370621.3	37																																																																																					0.361	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
BAIAP2L1	55971	hgsc.bcm.edu	37	7	97933535	97933552	+	In_Frame_Del	DEL	TGGGGCCTTAAAGGTGGA	TGGGGCCTTAAAGGTGGA	-	rs2269966|rs528998595	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	TGGGGCCTTAAAGGTGGA	TGGGGCCTTAAAGGTGGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr7:97933535_97933552delTGGGGCCTTAAAGGTGGA	ENST00000005260.8	-	12	1593_1610	c.1378_1395delTCCACCTTTAAGGCCCCA	c.(1378-1395)tccacctttaaggccccadel	p.STFKAP460del		NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	460			S -> T (in dbSNP:rs2269966).	S -> F (in Ref. 6; BAB15671). {ECO:0000305}.	filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GCTTGGACGCTGGGGCCTTAAAGGTGGATGTCGTCCTG	0.633																																																	0			7																																								97771488	SO:0001651	inframe_deletion	55971			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.1378_1395delTCCACCTTTAAGGCCCCA	7.37:g.97933535_97933552delTGGGGCCTTAAAGGTGGA	ENSP00000005260:p.Ser460_Pro465del		97771471	A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	In_Frame_Del	DEL	ENST00000005260.8	37	CCDS34687.1																																																																																				0.633	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842	
CHRNB3	1142	hgsc.bcm.edu	37	8	42587321	42587321	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr8:42587321delA	ENST00000289957.2	+	5	999	c.871delA	c.(871-873)aaafs	p.K291fs		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	291					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	ATCGTCTTCCAAAGTCATTCC	0.408																																																	0			8											260.0	238.0	245.0					8																	42587321		2203	4300	6503	42706478	SO:0001589	frameshift_variant	1142			U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.871delA	8.37:g.42587321delA	ENSP00000289957:p.Lys291fs		42706478	Q15827	Frame_Shift_Del	DEL	ENST00000289957.2	37	CCDS6134.1																																																																																				0.408	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1		
TFAM	7019	hgsc.bcm.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs544132101|rs78912196		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acafs	p.T144fs	TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269																																																	0			10											39.0	47.0	44.0					10																	60148570		2195	4296	6491	59818576	SO:0001589	frameshift_variant	7019			BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.432delA	10.37:g.60148570delA	ENSP00000420588:p.Thr144fs		59818576	A8MRB2|A9QXC6|B5BU05|Q5U0C6	Frame_Shift_Del	DEL	ENST00000487519.1	37	CCDS7253.1																																																																																				0.269	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201	
LGR4	55366	hgsc.bcm.edu	37	11	27390274	27390274	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr11:27390274delC	ENST00000379214.4	-	18	2439	c.1996delG	c.(1996-1998)gccfs	p.A666fs	LGR4_ENST00000389858.4_Frame_Shift_Del_p.A642fs	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	666					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GCCAAAAGGGCAGCAACCCGG	0.418																																																	0			11											91.0	86.0	88.0					11																	27390274		2202	4299	6501	27346850	SO:0001589	frameshift_variant	55366			AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1996delG	11.37:g.27390274delC	ENSP00000368516:p.Ala666fs		27346850	A6NCH3|G5E9B3|Q8N537|Q9NYD1	Frame_Shift_Del	DEL	ENST00000379214.4	37	CCDS31449.1																																																																																				0.418	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490	
TMBIM4	51643	hgsc.bcm.edu	37	12	66531937	66531937	+	Frame_Shift_Del	DEL	A	A	-	rs199863727	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr12:66531937delA	ENST00000358230.3	-	7	640	c.520delT	c.(520-522)tatfs	p.Y174fs	TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000398033.4_Frame_Shift_Del_p.F158fs|TMBIM4_ENST00000542724.1_Frame_Shift_Del_p.Y143fs|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000286424.7_Frame_Shift_Del_p.Y221fs	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	174					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		ATCTCACTATAAAAAAAAAAC	0.353																																																	0			12								30,27,3421		0,0,30,0,27,1682	40.0	38.0	38.0			6.2	0.1	12		41	61,77,7666		0,0,61,0,77,3764	no	codingComplex	TMBIM4	NM_016056.2		0,0,91,0,104,5446	A1A1,A1A2,A1R,A2A2,A2R,RR		1.7683,1.6389,1.7284			66531937	91,104,11087	1806	4076	5882	64818204	SO:0001589	frameshift_variant	51643			AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.520delT	12.37:g.66531937delA	ENSP00000350965:p.Tyr174fs		64818204	Q542Z6|Q9UHY5|Q9Y3C2	Frame_Shift_Del	DEL	ENST00000358230.3	37	CCDS41805.1																																																																																				0.353	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056	
ORAI1	84876	hgsc.bcm.edu	37	12	122064774	122064779	+	In_Frame_Del	DEL	CCGCCA	CCGCCA	-	rs141919534|rs531278468		TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	CCGCCA	CCGCCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr12:122064774_122064779delCCGCCA	ENST00000330079.7	+	1	320_325	c.127_132delCCGCCA	c.(127-132)ccgccadel	p.PP47del		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	0	Pro-rich.				blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.P43_P44delPP(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		cccgggggccccgccaccgccaccgc	0.748														5007	0.9998	1.0	1.0	5008	,	,		5795	1.0		1.0	False		,,,				2504	0.999																1	Deletion - In frame(1)	breast(1)	12																																								120549162	SO:0001651	inframe_deletion	84876			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.127_132delCCGCCA	12.37:g.122064780_122064785delCCGCCA	ENSP00000328216:p.Pro47_Pro48del		120549157	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	In_Frame_Del	DEL	ENST00000330079.7	37	CCDS41851.1																																																																																				0.748	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790	
KRTAP4-1	85285	hgsc.bcm.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																																	4	Deletion - In frame(4)	upper_aerodigestive_tract(2)|prostate(2)	17																																								36594378	SO:0001651	inframe_deletion	85285			AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del		36594322	A8MWS7|Q3SYF2	Frame_Shift_Del	DEL	ENST00000398472.1	37																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060	
FADS6	283985	hgsc.bcm.edu	37	17	72889693	72889701	+	Start_Codon_Del	DEL	TGGACTCTG	TGGACTCTG	-	rs112996472|rs2683273	byFrequency	TCGA-EI-6510-01A-11D-1733-10	TCGA-EI-6510-10A-01D-1733-10	TGGACTCTG	TGGACTCTG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	e6b7c001-ada2-46df-abc3-ff65c313fe5d	b9e5ae43-f76a-4003-8819-58155f6d1ebc	g.chr17:72889693_72889701delTGGACTCTG	ENST00000310226.6	-	0	7_15					NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6						fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					GTGGGTTCCATGGACTCTGTGGGCTCGGG	0.746																																																	0			17																																								70401296	SO:0001582	initiator_codon_variant	283985			AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"""Fatty acid desaturases"""	30459	protein-coding gene	gene with protein product			"""fatty acid desaturase domain family, member 6"""				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5			17.37:g.72889693_72889701delTGGACTCTG			70401288	Q17RQ7|Q6XYE1	Frame_Shift_Del	DEL	ENST00000310226.6	37	CCDS54163.1																																																																																				0.746	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1		
