#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	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_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	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_TranscriptID	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
SNX8	29886	hgsc.bcm.edu	37	7	2290567	2290567	+	IGR	SNP	C	C	T	rs538686319		TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr7:2290567C>T	ENST00000222990.3	-	0	4727				NUDT1_ENST00000397048.1_Silent_p.H157H|NUDT1_ENST00000397046.1_Silent_p.H134H|NUDT1_ENST00000339737.2_Silent_p.H134H|NUDT1_ENST00000356714.1_Silent_p.H134H|NUDT1_ENST00000397049.1_Silent_p.H157H|NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000343985.4_Silent_p.H157H	NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8						early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.H157H(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		AGAAATTCCACGGGTACTTCA	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16320	0.0		0.0	False		,,,				2504	0.0				p.H157H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C471T	7						.						144.0	150.0	148.0					7																	2290567		2203	4300	6503	2257093	SO:0001628	intergenic_variant	4521	exon5			AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512		7.37:g.2290567C>T			2257093	NM_198949	A4D207|Q96I67	Silent	SNP	ENST00000222990.3	37	CCDS5331.1																																																																																				0.592	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2		
AIMP2	7965	hgsc.bcm.edu	37	7	6057572	6057572	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr7:6057572C>T	ENST00000223029.3	+	3	589	c.470C>T	c.(469-471)tCg>tTg	p.S157L	SNORA42_ENST00000384488.1_RNA|AIMP2_ENST00000400479.2_Missense_Mutation_p.S79L|AIMP2_ENST00000395236.2_Missense_Mutation_p.S88L	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	157	Interaction with PARK2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S157L(1)		large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ACGCACTCCTCGGTCAAGAGC	0.542																																					p.S157L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C470T	7						.						72.0	58.0	63.0					7																	6057572		2203	4300	6503	6024098	SO:0001583	missense	7965	exon3			U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.470C>T	7.37:g.6057572C>T	ENSP00000223029:p.Ser157Leu		6024098	NM_006303	Q75MR1|Q96CZ5|Q9P1L2	Missense_Mutation	SNP	ENST00000223029.3	37	CCDS5344.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064014	0.76187	.	.	ENSG00000106305	ENST00000223029;ENST00000400479;ENST00000395236	T;T;T	0.49139	0.79;0.84;0.93	5.82	5.82	0.92795	.	0.053694	0.85682	D	0.000000	T	0.62551	0.2437	M	0.73962	2.25	0.80722	D	1	D	0.57899	0.981	P	0.50860	0.652	T	0.66658	-0.5868	10	0.87932	D	0	-12.2522	20.0953	0.97838	0.0:1.0:0.0:0.0	.	157	Q13155	AIMP2_HUMAN	L	157;79;88	ENSP00000223029:S157L;ENSP00000383327:S79L;ENSP00000378658:S88L	ENSP00000223029:S157L	S	+	2	0	AIMP2	6024098	1.000000	0.71417	0.045000	0.18777	0.437000	0.31866	5.858000	0.69532	2.767000	0.95098	0.655000	0.94253	TCG		0.542	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242834.2	NM_006303	
AGMO	392636	hgsc.bcm.edu	37	7	15240937	15240937	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr7:15240937T>G	ENST00000342526.3	-	13	1480	c.1311A>C	c.(1309-1311)aaA>aaC	p.K437N		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	437					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.K437N(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AGGTGAGTTGTTTCATGCTTC	0.313																																					p.K437N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1311C	7						.						95.0	98.0	97.0					7																	15240937		2203	4297	6500	15207462	SO:0001583	missense	392636	exon13				CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.1311A>C	7.37:g.15240937T>G	ENSP00000341662:p.Lys437Asn		15207462	NM_001004320	A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.123234	0.37436	.	.	ENSG00000187546	ENST00000342526	T	0.34275	1.37	4.99	-0.621	0.11564	.	0.295909	0.35179	N	0.003386	T	0.26268	0.0641	L	0.38175	1.15	0.24093	N	0.995902	B	0.27498	0.18	B	0.30179	0.112	T	0.22417	-1.0217	10	0.66056	D	0.02	-22.3187	9.4965	0.38991	0.0:0.5182:0.0:0.4818	.	437	Q6ZNB7	ALKMO_HUMAN	N	437	ENSP00000341662:K437N	ENSP00000341662:K437N	K	-	3	2	AGMO	15207462	0.060000	0.20803	0.352000	0.25734	0.756000	0.42949	-0.535000	0.06142	-0.252000	0.09528	0.533000	0.62120	AAA		0.313	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320	
PLXNA4	91584	hgsc.bcm.edu	37	7	132192442	132192442	+	Silent	SNP	G	G	A			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr7:132192442G>A	ENST00000359827.3	-	2	1973	c.1011C>T	c.(1009-1011)acC>acT	p.T337T	PLXNA4_ENST00000423507.2_Silent_p.T337T|PLXNA4_ENST00000321063.4_Silent_p.T337T|PLXNA4_ENST00000378539.5_Silent_p.T337T			Q9HCM2	PLXA4_HUMAN	plexin A4	337	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.T337T(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGGAGAAGACGGTGAAGAGCA	0.572																																					p.T337T												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C1011T	7						.						71.0	67.0	68.0					7																	132192442		2203	4300	6503	131842982	SO:0001819	synonymous_variant	91584	exon3			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1011C>T	7.37:g.132192442G>A			131842982	NM_181775	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	CCDS43646.1																																																																																				0.572	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
FOXS1	2307	hgsc.bcm.edu	37	20	30432647	30432647	+	Silent	SNP	G	G	A	rs535425061	byFrequency	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr20:30432647G>A	ENST00000375978.3	-	1	773	c.699C>T	c.(697-699)gcC>gcT	p.A233A		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	233					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A233A(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CGGGCGTAGGGGCCTTATTAA	0.607													G|||	2	0.000399361	0.0	0.0	5008	,	,		15846	0.0		0.0	False		,,,				2504	0.002				p.A233A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C699T	20						.						34.0	36.0	35.0					20																	30432647		2203	4300	6503	29896308	SO:0001819	synonymous_variant	2307	exon1			AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.699C>T	20.37:g.30432647G>A			29896308	NM_004118	Q96D28	Silent	SNP	ENST00000375978.3	37	CCDS13192.1																																																																																				0.607	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118	
BPIFB3	359710	hgsc.bcm.edu	37	20	31644455	31644455	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr20:31644455G>A	ENST00000375494.3	+	2	232	c.232G>A	c.(232-234)Ggc>Agc	p.G78S	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	78	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.G78S(1)									TGGAGGAGGCGGCTTGCTGGG	0.612																																					p.G78S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G232A	20						.						92.0	90.0	91.0					20																	31644455		2203	4300	6503	31108116	SO:0001583	missense	359710	exon2			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.232G>A	20.37:g.31644455G>A	ENSP00000364643:p.Gly78Ser		31108116	NM_182658	Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153143	0.78001	.	.	ENSG00000186190	ENST00000375494	T	0.02085	4.46	4.44	4.44	0.53790	.	0.000000	0.56097	D	0.000031	T	0.09468	0.0233	M	0.61703	1.905	0.33429	D	0.580929	D	0.89917	1.0	D	0.91635	0.999	T	0.05500	-1.0881	10	0.41790	T	0.15	-13.3558	12.4227	0.55529	0.0:0.0:1.0:0.0	.	78	P59826	BPIB3_HUMAN	S	78	ENSP00000364643:G78S	ENSP00000364643:G78S	G	+	1	0	BPIFB3	31108116	0.998000	0.40836	0.996000	0.52242	0.902000	0.53008	4.482000	0.60257	2.274000	0.75844	0.561000	0.74099	GGC		0.612	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658	
RBL1	5933	hgsc.bcm.edu	37	20	35663842	35663848	+	Frame_Shift_Del	DEL	CTCTTAG	CTCTTAG	-			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	CTCTTAG	CTCTTAG	CTCTTAG	-	CTCTTAG	CTCTTAG	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr20:35663842_35663848delCTCTTAG	ENST00000373664.3	-	15	2033_2039	c.1967_1973delCTAAGAG	c.(1966-1974)gctaagagafs	p.AKR656fs	RBL1_ENST00000344359.3_Frame_Shift_Del_p.AKR656fs	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	656	Pocket; binds T and E1A.|Spacer.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)	p.A656fs*18(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AAAGAGTCTTCTCTTAGCACTCCCTGC	0.377																																					p.656_658del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1967_1973del	20						.																																			35097262	SO:0001589	frameshift_variant	5933	exon15			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.1967_1973delCTAAGAG	20.37:g.35663842_35663848delCTCTTAG	ENSP00000362768:p.Ala656fs		35097256	NM_002895	A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Frame_Shift_Del	DEL	ENST00000373664.3	37	CCDS13289.1																																																																																				0.377	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895	
SLC12A5	57468	hgsc.bcm.edu	37	20	44682326	44682326	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr20:44682326C>A	ENST00000454036.2	+	20	2775	c.2726C>A	c.(2725-2727)gCg>gAg	p.A909E	SLC12A5_ENST00000243964.3_Missense_Mutation_p.A886E	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	909					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.A886E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CGCATCACTGCGGAGGTCGAG	0.537																																					p.A886E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2657A	20						.						210.0	178.0	189.0					20																	44682326		2203	4300	6503	44115733	SO:0001583	missense	57468	exon20			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2726C>A	20.37:g.44682326C>A	ENSP00000387694:p.Ala909Glu		44115733	NM_020708	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467534	0.84533	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.87103	-2.21;-2.21	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.989;0.994	D	0.94783	0.7955	10	0.54805	T	0.06	.	15.7924	0.78376	0.0:1.0:0.0:0.0	.	909;886	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	E	909;886	ENSP00000387694:A909E;ENSP00000243964:A886E	ENSP00000243964:A886E	A	+	2	0	SLC12A5	44115733	1.000000	0.71417	0.220000	0.23810	0.851000	0.48451	7.606000	0.82863	2.192000	0.70111	0.491000	0.48974	GCG		0.537	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		
ZNF334	55713	hgsc.bcm.edu	37	20	45130597	45130598	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	AA	AA	AA	-	AA	AA	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr20:45130597_45130598delAA	ENST00000347606.4	-	5	1562_1563	c.1380_1381delTT	c.(1378-1383)tcttatfs	p.Y461fs	ZNF334_ENST00000593880.1_Frame_Shift_Del_p.Y484fs|ZNF334_ENST00000457685.2_Frame_Shift_Del_p.Y423fs	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y461fs*1(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTACATTCATAAGACTTCTTTC	0.366																																					p.460_461del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1380_1381del	20						.																																			44564005	SO:0001589	frameshift_variant	55713	exon5			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1380_1381delTT	20.37:g.45130597_45130598delAA	ENSP00000255129:p.Tyr461fs		44564004	NM_018102	Q5T6U2|Q9NVW4	Frame_Shift_Del	DEL	ENST00000347606.4	37	CCDS33480.1																																																																																				0.366	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1		
IL25	64806	hgsc.bcm.edu	37	14	23844900	23844900	+	Silent	SNP	C	C	T			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr14:23844900C>T	ENST00000329715.2	+	2	603	c.345C>T	c.(343-345)tgC>tgT	p.C115C	IL25_ENST00000397242.2_Silent_p.C99C|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000555731.1_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	115					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)	p.C115C(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		GCCCGCACTGCGTCAGCCTAC	0.637																																					p.C115C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C345T	14						.						87.0	84.0	85.0					14																	23844900		2203	4300	6503	22914740	SO:0001819	synonymous_variant	64806	exon2			AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.345C>T	14.37:g.23844900C>T			22914740	NM_022789	Q2M3F0|Q8IZV3|Q8WXB0	Silent	SNP	ENST00000329715.2	37	CCDS9597.1																																																																																				0.637	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2		
ESRRB	2103	hgsc.bcm.edu	37	14	76928939	76928939	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr14:76928939G>A	ENST00000509242.1	+	4	547	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	ESRRB_ENST00000556177.1_Missense_Mutation_p.R150Q|ESRRB_ENST00000261532.7_Missense_Mutation_p.R150Q|ESRRB_ENST00000380887.2_Missense_Mutation_p.R150Q|ESRRB_ENST00000507951.1_3'UTR	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	150					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R150Q(1)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		ATCACCAAACGGAGGCGCAAG	0.617																																					p.R150Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G449A	14						.						82.0	80.0	80.0					14																	76928939		2203	4300	6503	75998692	SO:0001583	missense	2103	exon5			X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.449G>A	14.37:g.76928939G>A	ENSP00000422488:p.Arg150Gln		75998692	NM_004452	A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378956	0.82682	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	D;D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28;-4.28	5.08	5.08	0.68730	.	0.121896	0.56097	D	0.000028	D	0.93501	0.7926	L	0.28014	0.82	0.80722	D	1	P;P	0.41848	0.763;0.538	B;B	0.34452	0.183;0.183	D	0.94434	0.7652	10	0.72032	D	0.01	.	18.5454	0.91044	0.0:0.0:1.0:0.0	.	150;155	Q5F0P7;E7EWD9	.;.	Q	155;150;150;150;150	ENSP00000424992:R155Q;ENSP00000422488:R150Q;ENSP00000451658:R150Q;ENSP00000370270:R150Q;ENSP00000261532:R150Q	ENSP00000261532:R150Q	R	+	2	0	ESRRB	75998692	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.800000	0.99124	2.372000	0.80975	0.555000	0.69702	CGG		0.617	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1		
CRYBA4	1413	hgsc.bcm.edu	37	22	27019224	27019224	+	Silent	SNP	C	C	T			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr22:27019224C>T	ENST00000354760.3	+	3	101	c.66C>T	c.(64-66)ttC>ttT	p.F22F	CRYBA4_ENST00000466315.1_Intron	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	22	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.F22F(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						AGGACGGCTTCCAGGGCCGGC	0.607																																					p.F22F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C66T	22						.						87.0	97.0	94.0					22																	27019224		2203	4300	6503	25349224	SO:0001819	synonymous_variant	1413	exon3				CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.66C>T	22.37:g.27019224C>T			25349224	NM_001886	Q4VB22|Q6ICE4	Silent	SNP	ENST00000354760.3	37	CCDS13841.1																																																																																				0.607	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886	
ZNF266	10781	hgsc.bcm.edu	37	19	9525259	9525259	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr19:9525259G>T	ENST00000592904.1	-	5	2418	c.342C>A	c.(340-342)gaC>gaA	p.D114E	ZNF266_ENST00000361151.1_Missense_Mutation_p.D114E|ZNF266_ENST00000590306.1_Missense_Mutation_p.D114E|ZNF266_ENST00000588933.1_Missense_Mutation_p.D114E|ZNF266_ENST00000592292.1_Missense_Mutation_p.D114E|ZNF266_ENST00000588221.1_Missense_Mutation_p.D114E|ZNF266_ENST00000361451.2_Missense_Mutation_p.D114E			Q14584	ZN266_HUMAN	zinc finger protein 266	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D114E(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						GAGTAAGGAAGTCTACTCCAT	0.428																																					p.D114E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C342A	19						.						137.0	127.0	130.0					19																	9525259		2203	4300	6503	9386259	SO:0001583	missense	10781	exon11			X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.342C>A	19.37:g.9525259G>T	ENSP00000466714:p.Asp114Glu		9386259	NM_006631	A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245600	0.39697	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.54479	0.57;0.57	2.57	0.361	0.16107	.	.	.	.	.	T	0.37128	0.0992	L	0.46157	1.445	0.09310	N	1	P	0.37864	0.61	B	0.29353	0.101	T	0.25257	-1.0137	9	0.72032	D	0.01	.	5.1663	0.15086	0.424:0.0:0.576:0.0	.	114	Q14584	ZN266_HUMAN	E	114	ENSP00000354680:D114E;ENSP00000355047:D114E	ENSP00000355047:D114E	D	-	3	2	ZNF266	9386259	0.022000	0.18835	0.002000	0.10522	0.016000	0.09150	0.226000	0.17776	0.181000	0.19994	-0.226000	0.12346	GAC		0.428	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1		
PREX2	80243	hgsc.bcm.edu	37	8	69136816	69136816	+	Missense_Mutation	SNP	C	C	T	rs200020354		TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr8:69136816C>T	ENST00000288368.4	+	39	5007	c.4730C>T	c.(4729-4731)gCg>gTg	p.A1577V	Y_RNA_ENST00000516401.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1577					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.A1577V(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGAACACAGCGAAGAATTTG	0.458																																					p.A1577V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4730T	8						.						104.0	97.0	99.0					8																	69136816		2203	4300	6503	69299370	SO:0001583	missense	80243	exon39			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4730C>T	8.37:g.69136816C>T	ENSP00000288368:p.Ala1577Val		69299370	NM_024870	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	35	5.458515	0.96240	.	.	ENSG00000046889	ENST00000288368	T	0.59772	0.24	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.67277	0.2876	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.61515	-0.7047	10	0.31617	T	0.26	.	18.6545	0.91445	0.0:1.0:0.0:0.0	.	1577	Q70Z35	PREX2_HUMAN	V	1577	ENSP00000288368:A1577V	ENSP00000288368:A1577V	A	+	2	0	PREX2	69299370	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	6.534000	0.73833	2.941000	0.99782	0.655000	0.94253	GCG		0.458	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	
FCRLA	84824	hgsc.bcm.edu	37	1	161681835	161681835	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr1:161681835G>A	ENST00000236938.6	+	4	904	c.662G>A	c.(661-663)cGc>cAc	p.R221H	FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367957.2_Missense_Mutation_p.R81H|FCRLA_ENST00000294796.4_Missense_Mutation_p.R70H|FCRLA_ENST00000546024.1_Missense_Mutation_p.R132H|FCRLA_ENST00000367953.3_Missense_Mutation_p.R210H|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540926.1_Missense_Mutation_p.R210H|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000309691.6_Missense_Mutation_p.R115H|FCRLA_ENST00000540521.1_Missense_Mutation_p.R87H|FCRLA_ENST00000367959.2_Missense_Mutation_p.R227H|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367949.2_Intron	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	204	Ig-like C2-type 2.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.R204H(1)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TCAGCTGCCCGCCTCCTCTTC	0.562																																					p.R87H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G260A	1						.						66.0	84.0	78.0					1																	161681835		2203	4300	6503	159948459	SO:0001583	missense	84824	exon3			AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.662G>A	1.37:g.161681835G>A	ENSP00000236938:p.Arg221His		159948459	NM_001184870	A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413877	0.42817	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000540521;ENST00000540926;ENST00000367957;ENST00000309691;ENST00000294796;ENST00000367953	T;T;T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66	5.81	-1.96	0.07525	.	0.845254	0.10232	N	0.699579	T	0.21387	0.0515	M	0.86953	2.85	0.09310	N	0.999999	D;D;D;D;P	0.89917	0.999;0.993;1.0;1.0;0.896	D;P;D;D;B	0.83275	0.986;0.85;0.996;0.98;0.357	T	0.04373	-1.0956	10	0.56958	D	0.05	.	6.3343	0.21287	0.3992:0.0:0.4844:0.1164	.	87;81;132;227;221	F5H720;Q5VXB1;G3V1J2;A6NC03;Q7L513-9	.;.;.;.;.	H	221;227;132;87;210;81;115;70;210	ENSP00000236938:R221H;ENSP00000356936:R227H;ENSP00000439838:R132H;ENSP00000442870:R87H;ENSP00000446380:R210H;ENSP00000356934:R81H;ENSP00000309596:R115H;ENSP00000294796:R70H;ENSP00000356930:R210H	ENSP00000236938:R221H	R	+	2	0	FCRLA	159948459	0.018000	0.18449	0.572000	0.28498	0.400000	0.30750	0.075000	0.14686	-0.073000	0.12842	-0.871000	0.02989	CGC		0.562	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738	
DISC1	27185	hgsc.bcm.edu	37	1	231954191	231954191	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr1:231954191A>T	ENST00000602281.1	+	9	1962	c.1909A>T	c.(1909-1911)Aaa>Taa	p.K637*	DISC1_ENST00000537876.1_Intron|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000539444.1_3'UTR|DISC1_ENST00000602873.1_3'UTR|DISC1_ENST00000366633.3_Nonsense_Mutation_p.K637*|DISC1_ENST00000535983.1_Nonsense_Mutation_p.K637*|DISC1_ENST00000439617.2_Nonsense_Mutation_p.K637*|DISC1_ENST00000366636.4_Nonsense_Mutation_p.K637*|TSNAX-DISC1_ENST00000602962.1_3'UTR	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	637	Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)		p.K637*(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CAGGAATGTCAAAAAGCTGGG	0.488																																					p.K637X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A1909T	1						.						88.0	93.0	92.0					1																	231954191		2203	4300	6503	230020814	SO:0001587	stop_gained	27185	exon9			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1909A>T	1.37:g.231954191A>T	ENSP00000473425:p.Lys637*		230020814	NM_001164539	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Nonsense_Mutation	SNP	ENST00000602281.1	37	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	A	39	7.823271	0.98510	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000366633	.	.	.	5.23	-3.29	0.05017	.	1.276940	0.05004	N	0.469715	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.5664	12.5838	0.56406	0.1786:0.6812:0.1402:0.0	.	.	.	.	X	637;637;637;669;515;637;637	.	ENSP00000355593:K637X	K	+	1	0	DISC1	230020814	0.000000	0.05858	0.000000	0.03702	0.858000	0.48976	-0.124000	0.10595	-0.795000	0.04462	0.482000	0.46254	AAA		0.488	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662	
OR2B11	127623	hgsc.bcm.edu	37	1	247614572	247614572	+	Missense_Mutation	SNP	C	C	T	rs149924080		TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr1:247614572C>T	ENST00000318749.6	-	1	736	c.713G>A	c.(712-714)cGa>cAa	p.R238Q		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R238Q(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGCCTTGTGTCGTCCCTTGGA	0.567																																					p.R238Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G713A	1						.	C	GLN/ARG	0,4406		0,0,2203	124.0	119.0	120.0		713	2.2	0.0	1	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR2B11	NM_001004492.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	238/318	247614572	1,13005	2203	4300	6503	245681195	SO:0001583	missense	127623	exon1				CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.713G>A	1.37:g.247614572C>T	ENSP00000325682:p.Arg238Gln		245681195	NM_001004492	B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837106	0.50951	0.0	1.16E-4	ENSG00000177535	ENST00000318749	T	0.00311	8.15	5.09	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.514615	0.16116	N	0.228849	T	0.00210	0.0006	L	0.49699	1.58	0.09310	N	1	B	0.22080	0.064	B	0.17979	0.02	T	0.27905	-1.0060	10	0.37606	T	0.19	.	6.4632	0.21968	0.1491:0.6876:0.0:0.1633	.	238	Q5JQS5	OR2BB_HUMAN	Q	238	ENSP00000325682:R238Q	ENSP00000325682:R238Q	R	-	2	0	OR2B11	245681195	0.000000	0.05858	0.014000	0.15608	0.758000	0.43043	-0.076000	0.11412	0.844000	0.35094	0.643000	0.83706	CGA		0.567	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492	
WT1	7490	hgsc.bcm.edu	37	11	32421519	32421519	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr11:32421519G>A	ENST00000379079.2	-	6	710	c.437C>T	c.(436-438)aCg>aTg	p.T146M	WT1_ENST00000530998.1_Missense_Mutation_p.T129M|WT1_ENST00000332351.3_Missense_Mutation_p.T358M|WT1_ENST00000448076.3_Missense_Mutation_p.T358M	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	290					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T290fs*27(1)|p.T290M(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GACACCGTGCGTGTGTATTCT	0.562			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																												p.T146M		yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	Wilms tumour 1 gene		O	.	.	2	Substitution - Missense(1)|Insertion - Frameshift(1)	large_intestine(1)|kidney(1)	c.C437T	11						.						274.0	226.0	242.0					11																	32421519		2202	4299	6501	32378095	SO:0001583	missense	7490	exon6	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.437C>T	11.37:g.32421519G>A	ENSP00000368370:p.Thr146Met		32378095	NM_001198551	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938109	0.73557	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076;ENST00000527775	D;D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16	5.98	5.98	0.97165	Wilm&apos (1);s tumour protein, N-terminal (1);	0.000000	0.64402	U	0.000001	D	0.92515	0.7623	L	0.54323	1.7	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	0.79108	0.972;0.992;0.988;0.944;0.969	D	0.92348	0.5887	10	0.87932	D	0	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	346;290;363;129;146	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	M	146;358;129;341;358;109	ENSP00000368370:T146M;ENSP00000331327:T358M;ENSP00000435307:T129M;ENSP00000415516:T341M;ENSP00000413452:T358M;ENSP00000435351:T109M	ENSP00000331327:T358M	T	-	2	0	WT1	32378095	1.000000	0.71417	0.991000	0.47740	0.167000	0.22549	8.979000	0.93455	2.835000	0.97688	0.650000	0.86243	ACG		0.562	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378	
PPP2R5B	5526	hgsc.bcm.edu	37	11	64695883	64695883	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr11:64695883C>A	ENST00000164133.2	+	6	1330	c.708C>A	c.(706-708)aaC>aaA	p.N236K		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	236					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.N236K(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						AACAGTGCAACCACATCTTCC	0.607																																					p.N236K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C708A	11						.						96.0	88.0	91.0					11																	64695883		2201	4297	6498	64452459	SO:0001583	missense	5526	exon6			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.708C>A	11.37:g.64695883C>A	ENSP00000164133:p.Asn236Lys		64452459	NM_006244	Q13853	Missense_Mutation	SNP	ENST00000164133.2	37	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466934	0.63625	.	.	ENSG00000068971	ENST00000164133;ENST00000359279;ENST00000527441	.	.	.	3.56	0.521	0.17046	Armadillo-type fold (1);	0.166817	0.50627	D	0.000111	T	0.76557	0.4004	M	0.88310	2.945	0.43467	D	0.99567	P	0.43024	0.798	P	0.60609	0.877	T	0.74899	-0.3507	9	0.87932	D	0	-6.8373	7.1325	0.25510	0.0:0.657:0.0:0.343	.	236	Q15173	2A5B_HUMAN	K	236;263;236	.	ENSP00000164133:N236K	N	+	3	2	PPP2R5B	64452459	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	2.323000	0.43823	0.130000	0.18549	-0.274000	0.10170	AAC		0.607	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244	
ABCG4	64137	hgsc.bcm.edu	37	11	119027069	119027069	+	Silent	SNP	G	G	A			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr11:119027069G>A	ENST00000449422.2	+	7	905	c.717G>A	c.(715-717)gtG>gtA	p.V239V	ABCG4_ENST00000531739.1_Silent_p.V239V|ABCG4_ENST00000307417.3_Silent_p.V239V	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	239	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.V239V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTTTCCAAGTGGTGTCCCTCA	0.592																																					p.V239V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G717A	11						.						142.0	132.0	135.0					11																	119027069		2200	4295	6495	118532279	SO:0001819	synonymous_variant	64137	exon7			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.717G>A	11.37:g.119027069G>A			118532279	NM_001142505	A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	ENST00000449422.2	37	CCDS8415.1																																																																																				0.592	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169	
VARS2	57176	hgsc.bcm.edu	37	6	30886682	30886682	+	Missense_Mutation	SNP	C	C	T	rs142164262		TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr6:30886682C>T	ENST00000321897.5	+	10	1696	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L	VARS2_ENST00000542001.1_Missense_Mutation_p.S215L|VARS2_ENST00000416670.2_Missense_Mutation_p.S355L|VARS2_ENST00000541562.1_Missense_Mutation_p.S385L			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	355					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.S355L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CCAGACGACTCGCGATACACA	0.532																																					p.S215L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C644T	6						.	C	LEU/SER,LEU/SER,LEU/SER	0,3022		0,0,1511	87.0	73.0	78.0		644,1154,1064	4.8	0.5	6	dbSNP_134	78	1,5415		0,1,2707	yes	missense,missense,missense	VARS2	NM_001167733.1,NM_001167734.1,NM_020442.4	145,145,145	0,1,4218	TT,TC,CC		0.0185,0.0,0.0119	benign,benign,benign	215/924,385/1094,355/1064	30886682	1,8437	1511	2708	4219	30994661	SO:0001583	missense	57176	exon10			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1064C>T	6.37:g.30886682C>T	ENSP00000316092:p.Ser355Leu		30994661	NM_001167733	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324021	0.41096	0.0	1.85E-4	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.78	4.78	0.61160	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.166320	0.53938	D	0.000051	T	0.14442	0.0349	L	0.39514	1.22	0.32572	N	0.529592	B;B;B	0.32862	0.11;0.201;0.387	B;B;B	0.29862	0.084;0.065;0.108	T	0.09796	-1.0658	10	0.51188	T	0.08	-6.9563	15.3233	0.74139	0.0:1.0:0.0:0.0	.	355;385;355	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	L	355;355;215;385	ENSP00000316092:S355L;ENSP00000394802:S355L;ENSP00000438200:S215L;ENSP00000441000:S385L	ENSP00000316092:S355L	S	+	2	0	VARS2	30994661	0.311000	0.24536	0.543000	0.28128	0.003000	0.03518	5.068000	0.64364	2.212000	0.71576	0.563000	0.77884	TCG		0.532	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442	
IKZF3	22806	hgsc.bcm.edu	37	17	37922386	37922386	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr17:37922386C>T	ENST00000346872.3	-	8	1248	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000377945.3_Missense_Mutation_p.R262H|IKZF3_ENST00000377944.3_Missense_Mutation_p.R253H|IKZF3_ENST00000583368.1_Missense_Mutation_p.R149H|IKZF3_ENST00000467757.1_Missense_Mutation_p.R340H|IKZF3_ENST00000535189.1_Missense_Mutation_p.R362H|IKZF3_ENST00000351680.3_Missense_Mutation_p.R357H|IKZF3_ENST00000350532.3_Missense_Mutation_p.R357H|IKZF3_ENST00000377958.2_Missense_Mutation_p.R309H|IKZF3_ENST00000346243.3_Missense_Mutation_p.R318H|IKZF3_ENST00000377952.2_Missense_Mutation_p.R175H|IKZF3_ENST00000439167.2_Missense_Mutation_p.R323H|IKZF3_ENST00000439016.2_Missense_Mutation_p.R301H|IKZF3_ENST00000394189.2_Missense_Mutation_p.R214H	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	396					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R396H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTGATTCTGGCGTTCTTCATG	0.542																																					p.R357H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1070A	17						.						234.0	203.0	213.0					17																	37922386		2203	4300	6503	35175912	SO:0001583	missense	22806	exon7			AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.1187G>A	17.37:g.37922386C>T	ENSP00000344544:p.Arg396His		35175912	NM_183230	B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.35|15.35	2.808916|2.808916	0.50421|0.50421	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000439167;ENST00000439016|ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	.|T;T;T;T;T;T;T;T;T;T	.|0.10192	.|3.31;3.36;3.1;2.9;3.54;3.17;3.22;3.24;3.14;4.17	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.000000	.|0.64402	.|D	.|0.000015	T|T	0.12390|0.12390	0.0301|0.0301	M|M	0.66506|0.66506	2.035|2.035	0.46701|0.46701	D|D	0.999169|0.999169	.|B;P;P;P;B;B;B;P;B;P;B;B;B	.|0.48016	.|0.351;0.765;0.824;0.904;0.351;0.019;0.228;0.824;0.113;0.525;0.351;0.159;0.074	.|B;B;B;B;B;B;B;B;B;B;B;B;B	.|0.35727	.|0.081;0.209;0.124;0.209;0.081;0.012;0.081;0.124;0.052;0.152;0.081;0.048;0.023	T|T	0.05699|0.05699	-1.0869|-1.0869	5|10	.|0.31617	.|T	.|0.26	-21.2685|-21.2685	14.0714|14.0714	0.64863|0.64863	0.0:0.9282:0.0:0.0718|0.0:0.9282:0.0:0.0718	.|.	.|309;175;214;262;253;362;318;301;357;340;357;323;396	.|Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9	.|.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN	T|H	311;350|396;301;262;214;253;309;175;362;357;318;357;340	.|ENSP00000367180:R262H;ENSP00000377741:R214H;ENSP00000367179:R253H;ENSP00000367194:R309H;ENSP00000367188:R175H;ENSP00000438972:R362H;ENSP00000345622:R357H;ENSP00000341977:R318H;ENSP00000344471:R357H;ENSP00000420463:R340H	.|ENSP00000341977:R318H	A|R	-|-	1|2	0|0	IKZF3|IKZF3	35175912|35175912	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	3.131000|3.131000	0.50515|0.50515	2.702000|2.702000	0.92279|0.92279	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.542	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481	
KRT13	3860	hgsc.bcm.edu	37	17	39661658	39661658	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr17:39661658C>T	ENST00000246635.3	-	1	191	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	KRT13_ENST00000587544.1_Missense_Mutation_p.V49M|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Missense_Mutation_p.V49M|AC019349.5_ENST00000411759.1_RNA	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	49	Gly-rich.|Head.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.V49M(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				ccacAGCTCACGCCGCCTCCA	0.622																																					p.V49M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G145A	17						.						115.0	117.0	116.0					17																	39661658		2203	4300	6503	36915184	SO:0001583	missense	3860	exon1				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.145G>A	17.37:g.39661658C>T	ENSP00000246635:p.Val49Met		36915184	NM_153490	Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	2.988	-0.208749	0.06140	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	T;T	0.42131	0.98;0.98	4.72	-3.89	0.04193	.	0.631506	0.14339	N	0.325877	T	0.13415	0.0325	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.14531	-1.0469	10	0.34782	T	0.22	.	6.4831	0.22073	0.101:0.4999:0.1033:0.2958	.	49;49;49	P13646-2;P13646-3;P13646	.;.;K1C13_HUMAN	M	49	ENSP00000246635:V49M;ENSP00000336604:V49M	ENSP00000157775:V49M	V	-	1	0	KRT13	36915184	0.000000	0.05858	0.228000	0.23943	0.074000	0.17049	-1.070000	0.03440	-0.971000	0.03564	-1.202000	0.01658	GTG		0.622	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490	
ACADVL	37	hgsc.bcm.edu	37	17	7125312	7125312	+	Missense_Mutation	SNP	G	G	A	rs398123091		TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr17:7125312G>A	ENST00000356839.5	+	8	843	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	ACADVL_ENST00000581562.1_3'UTR|DLG4_ENST00000399510.2_5'Flank|MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000543245.2_Missense_Mutation_p.G245R|ACADVL_ENST00000350303.5_Missense_Mutation_p.G200R	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	222	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)	p.G222R(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						GCCCTCAAGCGGGTCAGATGC	0.562																																					p.G200R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G598A	17						.						69.0	72.0	71.0					17																	7125312		2203	4300	6503	7066036	SO:0001583	missense	37	exon7			BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.664G>A	17.37:g.7125312G>A	ENSP00000349297:p.Gly222Arg		7066036	NM_001033859	B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	ENST00000356839.5	37	CCDS11090.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028471	0.93518	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	D;D	0.99929	-8.13;-8.13	5.86	4.88	0.63580	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, conserved site (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.053131	0.85682	N	0.000000	D	0.99932	0.9969	M	0.93939	3.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.993;0.995;1.0	D	0.95684	0.8734	10	0.87932	D	0	.	14.6955	0.69118	0.0:0.1461:0.8539:0.0	.	268;245;200;222	G3V1M7;F5H2A9;P49748-2;P49748	.;.;.;ACADV_HUMAN	R	245;268;200;222;268	ENSP00000438689:G245R;ENSP00000344152:G200R	ENSP00000325395:G222R	G	+	1	0	ACADVL	7066036	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	8.172000	0.89677	1.462000	0.47948	0.655000	0.94253	GGG		0.562	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018	
PPM1E	22843	hgsc.bcm.edu	37	17	57033121	57033121	+	Silent	SNP	G	G	A			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr17:57033121G>A	ENST00000308249.2	+	2	705	c.576G>A	c.(574-576)ggG>ggA	p.G192G		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)	p.G192G(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GCACAGAAGGGACTGTGGGTG	0.383																																					p.G192G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G576A	17						.						106.0	96.0	99.0					17																	57033121		2203	4300	6503	54387903	SO:0001819	synonymous_variant	22843	exon2			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.576G>A	17.37:g.57033121G>A			54387903	NM_014906	Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	37	CCDS11613.1																																																																																				0.383	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906	
DOC2A	8448	hgsc.bcm.edu	37	16	30017747	30017747	+	Silent	SNP	G	G	T			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr16:30017747G>T	ENST00000350119.4	-	10	1234	c.1044C>A	c.(1042-1044)tcC>tcA	p.S348S	DOC2A_ENST00000564979.1_Silent_p.S348S|DOC2A_ENST00000564944.1_Silent_p.S348S	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	348	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Interaction with UNC13D.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.S348S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						TGAAGTCATTGGATTTGCCAA	0.607																																					p.S348S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1044A	16						.						116.0	113.0	114.0					16																	30017747		2197	4300	6497	29925248	SO:0001819	synonymous_variant	8448	exon10			D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"""Synaptotagmins"""	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.1044C>A	16.37:g.30017747G>T			29925248	NM_003586	B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Silent	SNP	ENST00000350119.4	37	CCDS10666.1																																																																																				0.607	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255148.2	NM_003586	
PLCXD2	257068	hgsc.bcm.edu	37	3	111426852	111426852	+	Silent	SNP	C	C	T	rs143931101		TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr3:111426852C>T	ENST00000477665.1	+	2	567	c.243C>T	c.(241-243)ctC>ctT	p.L81L	PLCXD2_ENST00000393934.3_Silent_p.L81L	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	81	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.L81L(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TCAAACGCCTCGCCAGGATCT	0.502																																					p.L81L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C243T	3						.	C	,	1,4405	2.1+/-5.4	0,1,2202	55.0	59.0	57.0		243,243	-11.5	0.2	3	dbSNP_134	57	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	PLCXD2	NM_001185106.1,NM_153268.3	,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,	81/306,81/305	111426852	4,13002	2203	4300	6503	112909542	SO:0001819	synonymous_variant	257068	exon2			AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.243C>T	3.37:g.111426852C>T			112909542	NM_153268	Q96N12	Silent	SNP	ENST00000477665.1	37	CCDS54619.1																																																																																				0.502	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268	
RABL3	285282	hgsc.bcm.edu	37	3	120428692	120428692	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr3:120428692C>G	ENST00000273375.3	-	3	232	c.203G>C	c.(202-204)gGa>gCa	p.G68A	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.G68A	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	68	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)	p.G68A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		CACAGAGCCTCCAACATCCCA	0.353																																					p.G68A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G203C	3						.						97.0	96.0	96.0					3																	120428692		2203	4300	6503	121911382	SO:0001583	missense	285282	exon3			BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.203G>C	3.37:g.120428692C>G	ENSP00000273375:p.Gly68Ala		121911382	NM_173825	Q8WUD3	Missense_Mutation	SNP	ENST00000273375.3	37	CCDS3001.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895802	0.91962	.	.	ENSG00000144840	ENST00000273375;ENST00000483733	T;T	0.57752	0.38;0.38	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.57666	0.2069	N	0.25992	0.78	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.45934	-0.9227	10	0.06625	T	0.88	-12.2393	17.4766	0.87660	0.0:1.0:0.0:0.0	.	68	Q5HYI8	RABL3_HUMAN	A	68	ENSP00000273375:G68A;ENSP00000419986:G68A	ENSP00000273375:G68A	G	-	2	0	RABL3	121911382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.887000	0.75616	2.809000	0.96659	0.655000	0.94253	GGA		0.353	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	NM_173825	
PTX3	5806	hgsc.bcm.edu	37	3	157160185	157160185	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr3:157160185G>A	ENST00000295927.3	+	3	708	c.563G>A	c.(562-564)cGt>cAt	p.R188H	VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	188	Pentaxin.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)	p.R188H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTCCCAATGCGTTCCAAGAAG	0.348																																					p.R188H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G563A	3						.						57.0	57.0	57.0					3																	157160185		2203	4300	6503	158642879	SO:0001583	missense	5806	exon3			X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"""pentaxin-related gene, rapidly induced by IL-1 beta"", ""tumor necrosis factor, alpha-induced protein 5"", ""pentraxin-related gene, rapidly induced by IL-1 beta"""	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.563G>A	3.37:g.157160185G>A	ENSP00000295927:p.Arg188His		158642879	NM_002852	B2R6T6|Q38M82	Missense_Mutation	SNP	ENST00000295927.3	37	CCDS3180.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887382	0.91814	.	.	ENSG00000163661	ENST00000295927	T	0.59772	0.24	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.81197	0.4772	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84516	0.0625	10	0.87932	D	0	-14.9214	19.3998	0.94623	0.0:0.0:1.0:0.0	.	188	P26022	PTX3_HUMAN	H	188	ENSP00000295927:R188H	ENSP00000295927:R188H	R	+	2	0	PTX3	158642879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.091000	0.94151	2.586000	0.87340	0.655000	0.94253	CGT		0.348	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352028.1	NM_002852	
SHOX2	6474	hgsc.bcm.edu	37	3	157817680	157817680	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr3:157817680T>C	ENST00000425436.3	-	4	696	c.671A>G	c.(670-672)aAc>aGc	p.N224S	SHOX2_ENST00000483851.2_Missense_Mutation_p.N224S|SHOX2_ENST00000554685.1_5'Flank|SHOX2_ENST00000389589.4_Missense_Mutation_p.N248S|SHOX2_ENST00000441443.2_Missense_Mutation_p.N95S|SHOX2_ENST00000490689.2_Missense_Mutation_p.N95S	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	224					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.N95S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AGCACCTACGTTGACATAAGG	0.403																																					p.N224S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A671G	3						.						56.0	56.0	56.0					3																	157817680		2203	4300	6503	159300374	SO:0001583	missense	6474	exon4			AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.671A>G	3.37:g.157817680T>C	ENSP00000398704:p.Asn224Ser		159300374	NM_006884	O60465|O60467|O60903	Missense_Mutation	SNP	ENST00000425436.3	37	CCDS43164.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.189214	0.78789	.	.	ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000258518	ENST00000425436;ENST00000490689;ENST00000389589;ENST00000313019;ENST00000441443;ENST00000483851	D;D;D;D;D	0.93307	-2.88;-3.2;-3.0;-3.2;-3.06	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.94751	0.8306	L	0.40543	1.245	0.58432	D	0.999995	D;P;P	0.71674	0.998;0.867;0.76	D;P;P	0.76071	0.987;0.755;0.504	D	0.93649	0.6971	10	0.30078	T	0.28	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	224;248;224	O60902-2;O60902-3;O60902	.;.;SHOX2_HUMAN	S	248;95;224;95;95;224	ENSP00000398704:N248S;ENSP00000451888:N95S;ENSP00000374240:N224S;ENSP00000397099:N95S;ENSP00000419362:N224S	ENSP00000327294:N95S	N	-	2	0	SHOX2;AC112502.1	159300374	1.000000	0.71417	0.984000	0.44739	0.994000	0.84299	7.644000	0.83416	2.326000	0.78906	0.533000	0.62120	AAC		0.403	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2		
ZNF662	389114	hgsc.bcm.edu	37	3	42950352	42950352	+	Silent	SNP	G	G	A			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr3:42950352G>A	ENST00000541208.1	+	3	471	c.102G>A	c.(100-102)tcG>tcA	p.S34S	ZNF662_ENST00000430067.2_3'UTR|KRBOX1_ENST00000426937.1_5'UTR|ZNF662_ENST00000328199.6_Silent_p.S94S|ZNF662_ENST00000422021.1_Silent_p.S34S|ZNF662_ENST00000440367.2_Silent_p.S34S			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S34S(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CCTGGTGCTCGGTTCCTCGGG	0.562																																					p.S94S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G282A	3						.						81.0	86.0	84.0					3																	42950352		2203	4300	6503	42925356	SO:0001819	synonymous_variant	389114	exon3			AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.102G>A	3.37:g.42950352G>A			42925356	NM_001134656	A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Silent	SNP	ENST00000541208.1	37	CCDS2708.1																																																																																				0.562	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404	
EPHA3	2042	hgsc.bcm.edu	37	3	89468391	89468391	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr3:89468391T>G	ENST00000336596.2	+	11	2150	c.1925T>G	c.(1924-1926)cTt>cGt	p.L642R	EPHA3_ENST00000494014.1_Missense_Mutation_p.L642R	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	642	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.L642R(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CGCTTAAAACTTCCTTCAAAA	0.393										TSP Lung(6;0.00050)																											p.L642R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1925G	3						.						88.0	90.0	89.0					3																	89468391		2203	4298	6501	89551081	SO:0001583	missense	2042	exon11			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1925T>G	3.37:g.89468391T>G	ENSP00000337451:p.Leu642Arg		89551081	NM_005233	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.069593	0.76301	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	D;D	0.82433	-1.61;-1.61	5.8	5.8	0.92144	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83092	0.5179	N	0.12887	0.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83192	-0.0083	9	.	.	.	.	16.1502	0.81611	0.0:0.0:0.0:1.0	.	642	P29320	EPHA3_HUMAN	R	642	ENSP00000337451:L642R;ENSP00000419190:L642R	.	L	+	2	0	EPHA3	89551081	1.000000	0.71417	0.997000	0.53966	0.725000	0.41563	6.139000	0.71728	2.203000	0.70933	0.460000	0.39030	CTT		0.393	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
BCHE	590	hgsc.bcm.edu	37	3	165547858	165547858	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr3:165547858C>T	ENST00000264381.3	-	2	1130	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	322					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.V322M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TCACCATCCACGGTCGGACCA	0.388																																					p.V322M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G964A	3	GRCh37	CM080101	BCHE	M		.						37.0	39.0	39.0					3																	165547858		2201	4298	6499	167030552	SO:0001583	missense	590	exon2			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.964G>A	3.37:g.165547858C>T	ENSP00000264381:p.Val322Met		167030552	NM_000055	A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	8.150	0.787147	0.16189	.	.	ENSG00000114200	ENST00000264381	T	0.71698	-0.59	5.42	3.56	0.40772	Carboxylesterase, type B (1);	0.119766	0.56097	N	0.000033	D	0.83358	0.5237	M	0.88842	2.985	0.80722	D	1	D	0.67145	0.996	P	0.59761	0.863	D	0.84488	0.0609	10	0.72032	D	0.01	.	12.8494	0.57848	0.0:0.8129:0.1177:0.0694	.	322	P06276	CHLE_HUMAN	M	322	ENSP00000264381:V322M	ENSP00000264381:V322M	V	-	1	0	BCHE	167030552	0.999000	0.42202	0.120000	0.21714	0.014000	0.08584	4.309000	0.59135	0.244000	0.21351	-0.797000	0.03246	GTG		0.388	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1		
FGF6	2251	hgsc.bcm.edu	37	12	4553335	4553335	+	Silent	SNP	G	G	A			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr12:4553335G>A	ENST00000228837.2	-	2	457	c.414C>T	c.(412-414)ttC>ttT	p.F138F		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	138					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)	p.F138F(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TCATGGCAACGAAGAGGGCAC	0.517																																					p.F138F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C414T	12						.						106.0	81.0	90.0					12																	4553335		2203	4300	6503	4423596	SO:0001819	synonymous_variant	2251	exon2			X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.414C>T	12.37:g.4553335G>A			4423596	NM_020996	Q0VAE1	Silent	SNP	ENST00000228837.2	37	CCDS8527.1																																																																																				0.517	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996	
NEUROD4	58158	hgsc.bcm.edu	37	12	55420538	55420538	+	Silent	SNP	C	C	T	rs145283816		TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr12:55420538C>T	ENST00000242994.3	+	2	693	c.315C>T	c.(313-315)gaC>gaT	p.D105D		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	105	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D105D(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GCCTGAATGACGCCCTGGATA	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18790	0.0		0.0	False		,,,				2504	0.0				p.D105D												.	.	2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	c.C315T	12						.	C		5,4401	9.9+/-24.2	0,5,2198	86.0	88.0	87.0		315	-10.0	0.2	12	dbSNP_134	87	0,8600		0,0,4300	no	coding-synonymous	NEUROD4	NM_021191.2		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		105/332	55420538	5,13001	2203	4300	6503	53706805	SO:0001819	synonymous_variant	58158	exon2			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.315C>T	12.37:g.55420538C>T			53706805	NM_021191	B2RAC9	Silent	SNP	ENST00000242994.3	37	CCDS8886.1																																																																																				0.488	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1		
MON2	23041	hgsc.bcm.edu	37	12	62918396	62918396	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr12:62918396C>G	ENST00000393632.2	+	9	1477	c.1086C>G	c.(1084-1086)ttC>ttG	p.F362L	MON2_ENST00000552115.1_Missense_Mutation_p.F362L|MON2_ENST00000393630.3_Missense_Mutation_p.F362L|MON2_ENST00000546600.1_Missense_Mutation_p.F362L|MON2_ENST00000393629.2_Missense_Mutation_p.F362L|MON2_ENST00000280379.6_Missense_Mutation_p.F362L|MON2_ENST00000552738.1_Missense_Mutation_p.F362L	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	362					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.F362L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TACACAGATTCTGTGTGCAGC	0.358																																					p.F362L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1086G	12						.						68.0	70.0	69.0					12																	62918396		2203	4300	6503	61204663	SO:0001583	missense	23041	exon9				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.1086C>G	12.37:g.62918396C>G	ENSP00000377252:p.Phe362Leu		61204663	NM_015026	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	1.126	-0.653958	0.03480	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;1.96	5.08	-4.64	0.03349	.	0.061421	0.64402	N	0.000002	T	0.15219	0.0367	N	0.00750	-1.22	0.23162	N	0.998195	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.29579	-1.0007	9	.	.	.	-3.318	2.6247	0.04926	0.0911:0.2904:0.2685:0.35	.	362;362;362;362	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	L	362;362;362;362;290;362;362;362	ENSP00000377252:F362L;ENSP00000377250:F362L;ENSP00000280379:F362L;ENSP00000447407:F362L;ENSP00000449215:F362L;ENSP00000377249:F362L;ENSP00000446635:F362L	.	F	+	3	2	MON2	61204663	0.000000	0.05858	0.835000	0.33067	0.730000	0.41778	-2.568000	0.00915	-1.094000	0.03054	-2.047000	0.00414	TTC		0.358	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026	
IFT81	28981	hgsc.bcm.edu	37	12	110573199	110573199	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr12:110573199G>C	ENST00000242591.5	+	7	1159	c.653G>C	c.(652-654)aGa>aCa	p.R218T	IFT81_ENST00000552912.1_Missense_Mutation_p.R218T|IFT81_ENST00000361948.4_Missense_Mutation_p.R218T	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	218					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)	p.R218T(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						GAAAAAGAGAGAGAAGAATAT	0.353																																					p.R218T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G653C	12						.						72.0	68.0	70.0					12																	110573199		2203	4300	6503	109057582	SO:0001583	missense	28981	exon7			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.653G>C	12.37:g.110573199G>C	ENSP00000242591:p.Arg218Thr		109057582	NM_001143779	Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749520	0.69533	.	.	ENSG00000122970	ENST00000361948;ENST00000552912;ENST00000242591;ENST00000546374	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.29	4.4	0.53042	.	0.041854	0.85682	D	0.000000	D	0.82291	0.5005	L	0.53249	1.67	0.80722	D	1	P;D	0.67145	0.935;0.996	P;D	0.77557	0.61;0.99	T	0.82032	-0.0658	10	0.41790	T	0.15	-21.0216	14.5025	0.67732	0.071:0.0:0.929:0.0	.	218;218	Q8WYA0;Q8WYA0-3	IFT81_HUMAN;.	T	218;218;218;188	ENSP00000355372:R218T;ENSP00000449718:R218T;ENSP00000242591:R218T;ENSP00000446950:R188T	ENSP00000242591:R218T	R	+	2	0	IFT81	109057582	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.237000	0.72345	1.385000	0.46445	-0.126000	0.14955	AGA		0.353	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055	
ADAM29	11086	hgsc.bcm.edu	37	4	175897289	175897289	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr4:175897289G>A	ENST00000359240.3	+	5	1283	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	ADAM29_ENST00000445694.1_Missense_Mutation_p.V205I|ADAM29_ENST00000404450.4_Missense_Mutation_p.V205I|ADAM29_ENST00000514159.1_Missense_Mutation_p.V205I|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	205	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.		V -> I (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V205I(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AATTGTAGTCGTCATTGATAA	0.348																																					p.V205I	Ovarian(140;1727 1835 21805 25838 41440)											ADAM29,large_intestine,colon,Substitution - Missense,0	.	2	Substitution - Missense(2)	large_intestine(2)	c.G613A	4						.						86.0	87.0	87.0					4																	175897289		2203	4300	6503	176133864	SO:0001583	missense	11086	exon3			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.613G>A	4.37:g.175897289G>A	ENSP00000352177:p.Val205Ile		176133864	NM_001130705	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.504909	0.44558	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	3.74	2.9	0.33743	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.330976	0.16461	N	0.213409	T	0.75627	0.3875	M	0.64080	1.96	0.09310	N	1	D	0.59357	0.985	P	0.58970	0.849	T	0.63435	-0.6638	9	.	.	.	.	7.3233	0.26540	0.1206:0.0:0.8794:0.0	.	205	Q9UKF5	ADA29_HUMAN	I	205	ENSP00000352177:V205I;ENSP00000414544:V205I;ENSP00000384229:V205I;ENSP00000423517:V205I	.	V	+	1	0	ADAM29	176133864	0.714000	0.27936	0.004000	0.12327	0.001000	0.01503	1.522000	0.35921	1.155000	0.42497	0.643000	0.83706	GTC		0.348	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
SH3KBP1	30011	hgsc.bcm.edu	37	X	19713745	19713745	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chrX:19713745G>T	ENST00000397821.3	-	5	795	c.505C>A	c.(505-507)Cag>Aag	p.Q169K	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.Q169K|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.Q132K	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	169					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.Q169K(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TTGGATAGCTGCTCATCCTGG	0.547																																					p.Q132K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C394A	X						.						163.0	135.0	145.0					X																	19713745		2203	4300	6503	19623666	SO:0001583	missense	30011	exon4			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.505C>A	X.37:g.19713745G>T	ENSP00000380921:p.Gln169Lys		19623666	NM_001024666	B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	G	9.548	1.115194	0.20795	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000397804;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234;ENST00000431164	T;T;T;T;T;T	0.49432	1.5;1.54;1.33;1.16;0.78;0.93	5.94	5.94	0.96194	.	0.262001	0.26773	N	0.022573	T	0.44008	0.1273	L	0.51422	1.61	0.80722	D	1	B;B	0.31435	0.323;0.278	B;B	0.26517	0.031;0.07	T	0.28106	-1.0054	10	0.20519	T	0.43	-6.253	19.2986	0.94134	0.0:0.0:1.0:0.0	.	169;132	Q96B97;Q5JPT5	SH3K1_HUMAN;.	K	110;169;77;132;105;169;116;77	ENSP00000380921:Q169K;ENSP00000369020:Q132K;ENSP00000369049:Q105K;ENSP00000369019:Q169K;ENSP00000388766:Q116K;ENSP00000409292:Q77K	ENSP00000369019:Q169K	Q	-	1	0	SH3KBP1	19623666	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.040000	0.64191	2.509000	0.84616	0.529000	0.55759	CAG		0.547	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892	
PFKFB1	5207	hgsc.bcm.edu	37	X	54984793	54984793	+	Silent	SNP	C	C	T			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chrX:54984793C>T	ENST00000375006.3	-	6	532	c.462G>A	c.(460-462)gtG>gtA	p.V154V	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.V89V	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	154	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)	p.V154V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CAATGAAAAACACCTATAAAA	0.393																																					p.V154V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G462A	X						.						99.0	86.0	91.0					X																	54984793		2203	4300	6503	55001518	SO:0001819	synonymous_variant	5207	exon6				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.462G>A	X.37:g.54984793C>T			55001518	NM_002625	B2RA88|B4DUN5|Q5JXS5|Q99951	Silent	SNP	ENST00000375006.3	37	CCDS14364.1																																																																																				0.393	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1		
TTN	7273	hgsc.bcm.edu	37	2	179640348	179640348	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr2:179640348G>T	ENST00000591111.1	-	28	6467	c.6243C>A	c.(6241-6243)ttC>ttA	p.F2081L	TTN_ENST00000342992.6_Missense_Mutation_p.F2081L|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F2035L|TTN_ENST00000360870.5_Missense_Mutation_p.F2081L|TTN_ENST00000460472.2_Missense_Mutation_p.F2035L|TTN_ENST00000359218.5_Missense_Mutation_p.F2035L|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F2081L|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12769	Ig-like 10.				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.F2035L(3)|p.F2081L(2)		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)			GGATTCTTTCGAAGATTTTTG	0.453																																					p.F2081L												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.C6243A	2						.						87.0	89.0	88.0					2																	179640348		2203	4300	6503	179348593	SO:0001583	missense	7273	exon28			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.6243C>A	2.37:g.179640348G>T	ENSP00000465570:p.Phe2081Leu		179348593	NM_133379	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		.	.	.	.	.	.	.	.	.	.	G	9.637	1.138076	0.21123	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59	5.19	-7.15	0.01521	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.26919	0.0659	N	0.00202	-1.86	0.21878	N	0.999493	B;B;B;B;B	0.11235	0.0;0.0;0.0;0.0;0.004	B;B;B;B;B	0.12837	0.002;0.002;0.002;0.002;0.008	T	0.36986	-0.9725	9	0.87932	D	0	.	4.9692	0.14105	0.4193:0.0903:0.3939:0.0965	.	2035;2035;2035;2081;2081	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	2081;2035;2035;2035;2035;2081	ENSP00000343764:F2081L;ENSP00000434586:F2035L;ENSP00000340554:F2035L;ENSP00000352154:F2035L;ENSP00000354117:F2081L	ENSP00000340554:F2035L	F	-	3	2	TTN	179348593	0.838000	0.29461	0.987000	0.45799	0.978000	0.69477	0.031000	0.13710	-0.629000	0.05575	-0.290000	0.09829	TTC		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SLC35F6	54978	hgsc.bcm.edu	37	2	26998356	26998356	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr2:26998356G>C	ENST00000344420.5	+	4	409	c.347G>C	c.(346-348)aGc>aCc	p.S116T	SLC35F6_ENST00000416475.2_Missense_Mutation_p.S33T|CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000482746.1_3'UTR	NM_017877.3	NP_060347.2	Q8N357	S35F6_HUMAN	solute carrier family 35, member F6	116	EamA.				negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)		p.S116T(1)									AGTGCCTCCAGCTTCCAGATG	0.552																																					p.S116T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G347C	2						.						100.0	95.0	97.0					2																	26998356		2203	4300	6503	26851860	SO:0001583	missense	54978	exon4			AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699			26055	protein-coding gene	gene with protein product	"""ANT2-binding protein"", ""transport and golgi organization 9 homolog (Drosophila)"""		"""chromosome 2 open reading frame 18"""	C2orf18		15911612, 19154410	Standard	NM_017877		Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.347G>C	2.37:g.26998356G>C	ENSP00000345528:p.Ser116Thr		26851860	NM_017877	D6W543|Q53GK2|Q8NBX6|Q9NWX0	Missense_Mutation	SNP	ENST00000344420.5	37	CCDS1728.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382137	0.82792	.	.	ENSG00000213699	ENST00000344420;ENST00000416475	T;T	0.67345	-0.26;-0.26	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.81375	0.4809	M	0.82132	2.575	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79784	0.988;0.989;0.993	T	0.79042	-0.1965	10	0.21014	T	0.42	.	16.999	0.86376	0.0:0.0:1.0:0.0	.	6;33;116	E7ET27;B4DLH2;Q8N357	.;.;CB018_HUMAN	T	116;33	ENSP00000345528:S116T;ENSP00000413413:S33T	ENSP00000345528:S116T	S	+	2	0	C2orf18	26851860	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.852000	0.92215	2.343000	0.79666	0.655000	0.94253	AGC		0.552	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250187.2	NM_017877	
IKZF2	22807	hgsc.bcm.edu	37	2	213921696	213921696	+	Silent	SNP	C	C	T			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr2:213921696C>T	ENST00000434687.1	-	5	576	c.267G>A	c.(265-267)gaG>gaA	p.E89E	IKZF2_ENST00000421754.2_Silent_p.E89E|IKZF2_ENST00000374319.4_Silent_p.E89E|IKZF2_ENST00000413091.3_Silent_p.E89E|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000342002.2_Silent_p.E95E|IKZF2_ENST00000451136.2_Silent_p.E89E|IKZF2_ENST00000457361.1_Silent_p.E89E			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	89					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E89E(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGTCAGCCACCTCGCTGCTCT	0.527																																					p.E89E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G267A	2						.						129.0	115.0	120.0					2																	213921696		2203	4300	6503	213629941	SO:0001819	synonymous_variant	22807	exon4			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.267G>A	2.37:g.213921696C>T			213629941	NM_016260	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Silent	SNP	ENST00000434687.1	37	CCDS2395.1																																																																																				0.527	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260	
TAF1L	138474	hgsc.bcm.edu	37	9	32631851	32631851	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr9:32631851G>A	ENST00000242310.4	-	1	3816	c.3727C>T	c.(3727-3729)Cgg>Tgg	p.R1243W	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	1243					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.R1243W(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)		ATCCTCCGCCGTTCTTTCCGC	0.453																																					p.R1243W												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C3727T	9						.						98.0	96.0	96.0					9																	32631851		2203	4300	6503	32621851	SO:0001583	missense	138474	exon1			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.3727C>T	9.37:g.32631851G>A	ENSP00000418379:p.Arg1243Trp		32621851	NM_153809	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265050	0.40095	.	.	ENSG00000122728	ENST00000242310	T	0.64260	-0.09	1.04	-0.675	0.11364	.	0.106321	0.64402	D	0.000005	T	0.59622	0.2207	L	0.29908	0.895	0.45528	D	0.99848	D	0.89917	1.0	D	0.71414	0.973	T	0.59369	-0.7467	10	0.87932	D	0	.	4.4056	0.11407	0.0:0.0:0.419:0.5809	.	1243	Q8IZX4	TAF1L_HUMAN	W	1243	ENSP00000418379:R1243W	ENSP00000418379:R1243W	R	-	1	2	TAF1L	32621851	1.000000	0.71417	0.784000	0.31847	0.128000	0.20619	1.695000	0.37763	0.507000	0.28148	0.195000	0.17529	CGG		0.453	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
BICD2	23299	hgsc.bcm.edu	37	9	95491439	95491439	+	Missense_Mutation	SNP	G	G	A	rs398123028		TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr9:95491439G>A	ENST00000375512.3	-	2	387	c.320C>T	c.(319-321)tCg>tTg	p.S107L	BICD2_ENST00000356884.6_Missense_Mutation_p.S107L	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	107			S -> L (in SMALED2; causes Golgi fragmentation; affects interaction with RAB6A and DNAI1 and the subcellular location of the protein). {ECO:0000269|PubMed:23664116, ECO:0000269|PubMed:23664119, ECO:0000269|PubMed:23664120}.		cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)	p.S107L(1)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTTGGAGGCCGACTCCTGGAT	0.572																																					p.S107L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C320T	9						.						125.0	96.0	106.0					9																	95491439		2203	4300	6503	94531260	SO:0001583	missense	23299	exon2			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.320C>T	9.37:g.95491439G>A	ENSP00000364662:p.Ser107Leu		94531260	NM_015250	O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944756	0.92593	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.57107	0.42;0.42	5.27	5.27	0.74061	.	0.069073	0.64402	D	0.000011	T	0.70954	0.3283	M	0.80183	2.485	0.54753	D	0.999988	D;D	0.76494	0.999;0.999	P;D	0.66351	0.905;0.943	T	0.67612	-0.5626	10	0.19590	T	0.45	-9.9639	16.7831	0.85567	0.0:0.0:1.0:0.0	.	107;107	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	L	107	ENSP00000349351:S107L;ENSP00000364662:S107L	ENSP00000349351:S107L	S	-	2	0	BICD2	94531260	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	7.595000	0.82710	2.630000	0.89119	0.655000	0.94253	TCG		0.572	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250	
COL5A1	1289	hgsc.bcm.edu	37	9	137716640	137716640	+	Silent	SNP	G	G	A			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr9:137716640G>A	ENST00000371817.3	+	62	5307	c.4893G>A	c.(4891-4893)acG>acA	p.T1631T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1631	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.T1631T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCTGGGCACGCAGCAGAACC	0.647																																					p.T1631T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4893A	9						.						52.0	48.0	49.0					9																	137716640		2203	4300	6503	136856461	SO:0001819	synonymous_variant	1289	exon62			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4893G>A	9.37:g.137716640G>A			136856461	NM_000093	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449124	0.26074	.	.	ENSG00000130635	ENST00000371820	.	.	.	4.16	-4.94	0.03057	.	.	.	.	.	T	0.34948	0.0915	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41910	-0.9482	4	.	.	.	.	0.2346	0.00184	0.2832:0.2677:0.2046:0.2445	.	.	.	.	T	51	.	.	A	+	1	0	COL5A1	136856461	0.002000	0.14202	0.991000	0.47740	0.998000	0.95712	-1.309000	0.02728	-0.495000	0.06659	0.539000	0.68188	GCA		0.647	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
FGF9	2254	hgsc.bcm.edu	37	13	22275487	22275487	+	Silent	SNP	G	G	A			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr13:22275487G>A	ENST00000382353.5	+	3	1070	c.540G>A	c.(538-540)cgG>cgA	p.R180R	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	180					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic digestive tract development (GO:0048566)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|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)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus (GO:0006606)|regulation of timing of cell differentiation (GO:0048505)|signal transduction (GO:0007165)|substantia nigra development (GO:0021762)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.R180R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GGACTAAACGGCACCAGAAAT	0.428																																					p.R180R	Melanoma(195;1939 2127 12623 13963 52730)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G540A	13						.						99.0	91.0	94.0					13																	22275487		2203	4300	6503	21173487	SO:0001819	synonymous_variant	2254	exon3			D14838	CCDS9298.1	13q11-q12	2014-01-30	2013-06-18		ENSG00000102678	ENSG00000102678		"""Endogenous ligands"""	3687	protein-coding gene	gene with protein product	"""glia-activating factor"""	600921	"""fibroblast growth factor 9 (glia-activating factor)"""			8321227	Standard	NM_002010		Approved		uc001uog.2	P31371	OTTHUMG00000017412	ENST00000382353.5:c.540G>A	13.37:g.22275487G>A			21173487	NM_002010	A8K427|Q3SY32	Silent	SNP	ENST00000382353.5	37	CCDS9298.1																																																																																				0.428	FGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046002.2		
SGCG	6445	hgsc.bcm.edu	37	13	23894856	23894856	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr13:23894856C>T	ENST00000218867.3	+	7	783	c.659C>T	c.(658-660)gCg>gTg	p.A220V	SGCG_ENST00000537476.1_Missense_Mutation_p.A220V|SGCG_ENST00000545013.1_Missense_Mutation_p.A220V	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	220					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.A220V(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		AAAATTGAGGCGCTTTCTCAA	0.448																																					p.A220V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C659T	13						.						94.0	94.0	94.0					13																	23894856		2203	4300	6503	22792856	SO:0001583	missense	6445	exon7			U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.659C>T	13.37:g.23894856C>T	ENSP00000218867:p.Ala220Val		22792856	NM_000231	Q32M32|Q5T9J6	Missense_Mutation	SNP	ENST00000218867.3	37	CCDS9299.1	.	.	.	.	.	.	.	.	.	.	C	7.835	0.720641	0.15372	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.94092	-3.35;-3.35;-3.35	5.62	2.95	0.34219	.	0.359451	0.32401	N	0.006155	D	0.85767	0.5773	L	0.35723	1.085	0.32340	N	0.559927	B	0.16802	0.019	B	0.16722	0.016	T	0.75536	-0.3283	10	0.09843	T	0.71	-11.4823	5.7878	0.18343	0.0:0.5251:0.2669:0.208	.	220	Q13326	SGCG_HUMAN	V	220	ENSP00000218867:A220V;ENSP00000444100:A220V;ENSP00000442232:A220V	ENSP00000218867:A220V	A	+	2	0	SGCG	22792856	0.071000	0.21146	0.994000	0.49952	0.001000	0.01503	0.217000	0.17603	0.743000	0.32719	-0.822000	0.03109	GCG		0.448	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	NM_000231	
PARP4	143	hgsc.bcm.edu	37	13	25030615	25030615	+	Splice_Site	SNP	C	C	T	rs139822298		TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr13:25030615C>T	ENST00000381989.3	-	21	2531	c.2426G>A	c.(2425-2427)cGc>cAc	p.R809H	PARP4_ENST00000480576.1_5'UTR	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	809					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R809H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GCAGTCTGTGCGCTGCAAAAC	0.483																																					p.R809H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2426A	13						.						115.0	96.0	103.0					13																	25030615		2203	4300	6503	23928615	SO:0001630	splice_region_variant	143	exon21			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2425-1G>A	13.37:g.25030615C>T			23928615	NM_006437	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.820450	0.32145	.	.	ENSG00000102699	ENST00000381989	T	0.02140	4.43	5.11	2.11	0.27256	.	0.648951	0.16256	N	0.222463	T	0.02767	0.0083	L	0.50333	1.59	0.23371	N	0.997816	D	0.61697	0.99	P	0.45099	0.469	T	0.45818	-0.9235	10	0.41790	T	0.15	1.6486	3.475	0.07581	0.4169:0.424:0.0:0.1592	.	809	Q9UKK3	PARP4_HUMAN	H	809	ENSP00000371419:R809H	ENSP00000371419:R809H	R	-	2	0	PARP4	23928615	0.699000	0.27786	0.632000	0.29296	0.637000	0.38172	0.364000	0.20325	0.696000	0.31696	0.638000	0.83543	CGC		0.483	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	Missense_Mutation
SLC46A3	283537	hgsc.bcm.edu	37	13	29287633	29287633	+	Missense_Mutation	SNP	T	T	C	rs150053579		TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr13:29287633T>C	ENST00000266943.6	-	3	613	c.244A>G	c.(244-246)Att>Gtt	p.I82V	SLC46A3_ENST00000380814.4_Missense_Mutation_p.I82V	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	82					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.I82V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AGACCAGGAATTAATCCACTT	0.368																																					p.I82V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A244G	13						.						58.0	56.0	57.0					13																	29287633		2203	4300	6503	28185633	SO:0001583	missense	283537	exon3				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.244A>G	13.37:g.29287633T>C	ENSP00000266943:p.Ile82Val		28185633	NM_181785	Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	ENST00000266943.6	37	CCDS9332.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.657098	0.47467	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.81330	-1.48;-1.48	6.17	6.17	0.99709	Major facilitator superfamily domain, general substrate transporter (1);	0.113198	0.64402	D	0.000015	T	0.77883	0.4197	L	0.47716	1.5	0.48975	D	0.999738	P;P;P	0.48089	0.905;0.724;0.767	B;B;P	0.47376	0.416;0.41;0.545	T	0.74160	-0.3755	10	0.16896	T	0.51	-44.1137	12.5976	0.56478	0.0:0.0657:0.0:0.9343	.	7;82;82	B5MEH0;Q7Z3Q1-2;Q7Z3Q1	.;.;S46A3_HUMAN	V	82	ENSP00000266943:I82V;ENSP00000370192:I82V	ENSP00000266943:I82V	I	-	1	0	SLC46A3	28185633	0.996000	0.38824	0.992000	0.48379	0.701000	0.40568	1.692000	0.37731	2.371000	0.80710	0.533000	0.62120	ATT		0.368	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785	
DCLK1	9201	hgsc.bcm.edu	37	13	36428681	36428681	+	Silent	SNP	C	C	T	rs200783749		TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr13:36428681C>T	ENST00000360631.3	-	6	1201	c.990G>A	c.(988-990)tcG>tcA	p.S330S	DCLK1_ENST00000255448.4_Silent_p.S330S|DCLK1_ENST00000460982.1_5'UTR|DCLK1_ENST00000379893.1_Silent_p.S23S|DCLK1_ENST00000379892.4_Silent_p.S330S			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	330	Pro/Ser-rich.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.S330S(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATGGGCTTGGCGACTTGCCTG	0.493													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18161	0.0		0.0	False		,,,				2504	0.0				p.S23S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G69A	13						.						132.0	116.0	121.0					13																	36428681		2203	4300	6503	35326681	SO:0001819	synonymous_variant	9201	exon2			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.990G>A	13.37:g.36428681C>T			35326681	NM_001195430	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37																																																																																					0.493	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734	
DGKH	160851	hgsc.bcm.edu	37	13	42733458	42733458	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr13:42733458T>G	ENST00000337343.4	+	6	700	c.679T>G	c.(679-681)Tgg>Ggg	p.W227G	DGKH_ENST00000261491.5_Missense_Mutation_p.W227G|DGKH_ENST00000379274.2_Missense_Mutation_p.W91G|DGKH_ENST00000538674.1_Intron|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.W91G|DGKH_ENST00000540693.1_Missense_Mutation_p.W227G	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	227					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.W227G(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TAACTGTAAATGGACTACCCT	0.403																																					p.W227G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T679G	13						.						83.0	68.0	73.0					13																	42733458		2203	4300	6503	41631458	SO:0001583	missense	160851	exon6			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.679T>G	13.37:g.42733458T>G	ENSP00000337572:p.Trp227Gly		41631458	NM_178009	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.492445	0.64074	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612	D;T;D;T;T	0.83419	-1.72;-1.14;-1.72;-1.34;-1.34	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.91157	0.7215	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.994;0.995;0.999	D	0.92449	0.5968	10	0.87932	D	0	.	15.2546	0.73576	0.0:0.0:0.0:1.0	.	91;227;227	Q86XP1-3;Q86XP1-2;Q86XP1	.;.;DGKH_HUMAN	G	227;227;227;91;91	ENSP00000440823:W227G;ENSP00000337572:W227G;ENSP00000261491:W227G;ENSP00000368576:W91G;ENSP00000445114:W91G	ENSP00000261491:W227G	W	+	1	0	DGKH	41631458	1.000000	0.71417	0.998000	0.56505	0.507000	0.33981	7.651000	0.83577	1.992000	0.58205	0.533000	0.62120	TGG		0.403	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009	
NALCN	259232	hgsc.bcm.edu	37	13	101890181	101890181	+	Silent	SNP	G	G	A			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr13:101890181G>A	ENST00000251127.6	-	12	1440	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.F453F	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	453					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.F453F(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTAGTAGTTCGAATTTGTGGA	0.348																																					p.F453F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1359T	13						.						163.0	174.0	171.0					13																	101890181		2203	4300	6503	100688182	SO:0001819	synonymous_variant	259232	exon12			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1359C>T	13.37:g.101890181G>A			100688182	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	CCDS9498.1																																																																																				0.348	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
CUBN	8029	hgsc.bcm.edu	37	10	16946007	16946007	+	Missense_Mutation	SNP	G	G	A	rs370911149		TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr10:16946007G>A	ENST00000377833.4	-	51	8085	c.8020C>T	c.(8020-8022)Cgt>Tgt	p.R2674C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2674	CUB 19. {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)	p.R2674C(1)		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)	TGTTCTACACGTTCGTTGGTG	0.353																																					p.R2674C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8020T	10						.	G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	70.0	64.0	66.0		8020	5.6	0.0	10		66	0,8600		0,0,4300	no	missense	CUBN	NM_001081.3	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	2674/3624	16946007	2,13004	2203	4300	6503	16986013	SO:0001583	missense	8029	exon51			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.8020C>T	10.37:g.16946007G>A	ENSP00000367064:p.Arg2674Cys		16986013	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402586	0.42613	4.54E-4	0.0	ENSG00000107611	ENST00000377833	T	0.18810	2.19	5.59	5.59	0.84812	CUB (5);	1.362850	0.04944	N	0.459160	T	0.40347	0.1113	L	0.55481	1.735	0.18873	N	0.999987	D	0.71674	0.998	P	0.57911	0.829	T	0.26121	-1.0112	10	0.49607	T	0.09	.	11.3483	0.49573	0.0:0.1265:0.7267:0.1468	.	2674	O60494	CUBN_HUMAN	C	2674	ENSP00000367064:R2674C	ENSP00000367064:R2674C	R	-	1	0	CUBN	16986013	0.042000	0.20092	0.008000	0.14137	0.673000	0.39480	2.506000	0.45433	2.787000	0.95880	0.591000	0.81541	CGT		0.353	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
NEUROG3	50674	hgsc.bcm.edu	37	10	71332516	71332516	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr10:71332516C>T	ENST00000242462.4	-	2	313	c.284G>A	c.(283-285)cGa>cAa	p.R95Q		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	95	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)	p.R95Q(1)		endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						GTTGTGCATTCGATTGCGCTC	0.667																																					p.R95Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G284A	10						.						99.0	62.0	75.0					10																	71332516		2203	4300	6503	71002522	SO:0001583	missense	50674	exon2			AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"""Basic helix-loop-helix proteins"""	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.284G>A	10.37:g.71332516C>T	ENSP00000242462:p.Arg95Gln		71002522	NM_020999	Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	ENST00000242462.4	37	CCDS31212.1	.	.	.	.	.	.	.	.	.	.	C	36	5.707922	0.96821	.	.	ENSG00000122859	ENST00000242462	D	0.99722	-6.53	4.7	4.7	0.59300	Helix-loop-helix DNA-binding (5);	0.000000	0.36665	N	0.002472	D	0.99859	0.9934	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96344	0.9253	10	0.87932	D	0	-15.7707	16.3734	0.83374	0.0:1.0:0.0:0.0	.	95	Q9Y4Z2	NGN3_HUMAN	Q	95	ENSP00000242462:R95Q	ENSP00000242462:R95Q	R	-	2	0	NEUROG3	71002522	1.000000	0.71417	0.957000	0.39632	0.993000	0.82548	7.516000	0.81772	2.416000	0.81992	0.591000	0.81541	CGA		0.667	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1	NM_020999	
ABCC2	1244	hgsc.bcm.edu	37	10	101594176	101594176	+	Missense_Mutation	SNP	C	C	T	rs142715085	byFrequency	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr10:101594176C>T	ENST00000370449.4	+	24	3411	c.3298C>T	c.(3298-3300)Cgc>Tgc	p.R1100C		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1100	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.R1100C(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TCAGTCCTTGCGCAGCTGGAT	0.468																																					p.R1100C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3298T	10						.		CYS/ARG	0,4406		0,0,2203	274.0	206.0	229.0		3298	4.4	0.9	10	dbSNP_134	229	7,8593	5.7+/-21.5	0,7,4293	yes	missense	ABCC2	NM_000392.3	180	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	probably-damaging	1100/1546	101594176	7,12999	2203	4300	6503	101584166	SO:0001583	missense	1244	exon24			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3298C>T	10.37:g.101594176C>T	ENSP00000359478:p.Arg1100Cys		101584166	NM_000392	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058211	0.55325	0.0	8.14E-4	ENSG00000023839	ENST00000370449	D	0.89681	-2.55	5.28	4.38	0.52667	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95468	0.8528	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96170	0.9122	10	0.87932	D	0	-10.2227	13.8333	0.63393	0.0:0.9261:0.0:0.0739	.	1100	Q92887	MRP2_HUMAN	C	1100	ENSP00000359478:R1100C	ENSP00000359478:R1100C	R	+	1	0	ABCC2	101584166	1.000000	0.71417	0.852000	0.33557	0.053000	0.15095	4.409000	0.59768	1.228000	0.43614	0.511000	0.50034	CGC		0.468	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	
CCT5	22948	hgsc.bcm.edu	37	5	10262693	10262693	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr5:10262693T>C	ENST00000280326.4	+	9	1700	c.1280T>C	c.(1279-1281)aTa>aCa	p.I427T	CCT5_ENST00000515390.1_Missense_Mutation_p.I372T|CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000515676.1_Missense_Mutation_p.I389T|CCT5_ENST00000503026.1_Missense_Mutation_p.I406T|CCT5_ENST00000506600.1_Missense_Mutation_p.I334T	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	427					'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)|response to virus (GO:0009615)	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)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)	p.I427T(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GCTGCTGAGATATCCTGTGCC	0.527																																					p.I427T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1280C	5						.						164.0	135.0	145.0					5																	10262693		2203	4300	6503	10315693	SO:0001583	missense	22948	exon9			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1280T>C	5.37:g.10262693T>C	ENSP00000280326:p.Ile427Thr		10315693	NM_012073	A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	ENST00000280326.4	37	CCDS3877.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.305093	0.60305	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.80904	0.4713	M	0.76002	2.32	0.80722	D	1	B;B;B;B;B	0.27117	0.02;0.02;0.101;0.168;0.168	B;B;B;B;B	0.37451	0.032;0.136;0.13;0.25;0.25	T	0.80432	-0.1385	10	0.51188	T	0.08	-27.645	14.4046	0.67073	0.0:0.0:0.0:1.0	.	334;372;425;427;427	B4DYD8;E7ENZ3;Q9BU08;A8K2X8;P48643	.;.;.;.;TCPE_HUMAN	T	427;406;372;400;389;334	ENSP00000280326:I427T;ENSP00000423318:I406T;ENSP00000426923:I372T;ENSP00000427297:I389T;ENSP00000423052:I334T	ENSP00000280326:I427T	I	+	2	0	CCT5	10315693	1.000000	0.71417	0.032000	0.17829	0.925000	0.55904	7.587000	0.82613	2.045000	0.60652	0.456000	0.33151	ATA		0.527	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2		
APC	324	hgsc.bcm.edu	37	5	112174223	112174223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr5:112174223C>T	ENST00000457016.1	+	16	3312	c.2932C>T	c.(2932-2934)Caa>Taa	p.Q978*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.Q978*|APC_ENST00000508376.2_Nonsense_Mutation_p.Q978*			P25054	APC_HUMAN	adenomatous polyposis coli	978	Responsible for down-regulation through a process mediated by direct ubiquitination.|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.Q978*(3)|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)		TAAAAGAGGTCAAATGAAACC	0.363		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)																											p.Q960X	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"""	.	.	4	Substitution - Nonsense(3)|Unknown(1)	large_intestine(3)|skin(1)	c.C2878T	5	GRCh37	CM995165	APC	M		.						79.0	74.0	76.0					5																	112174223		2202	4300	6502	112202122	SO:0001587	stop_gained	324	exon14	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.2932C>T	5.37:g.112174223C>T	ENSP00000413133:p.Gln978*		112202122	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	38	6.742256	0.97805	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.75	5.75	0.90469	.	0.049455	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-12.6895	19.94	0.97155	0.0:1.0:0.0:0.0	.	.	.	.	X	978;960;978;978;978	.	ENSP00000257430:Q978X	Q	+	1	0	APC	112202122	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	5.849000	0.69465	2.721000	0.93114	0.650000	0.86243	CAA		0.363	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175328	112175328	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr5:112175328C>A	ENST00000457016.1	+	16	4417	c.4037C>A	c.(4036-4038)tCa>tAa	p.S1346*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.S1346*|APC_ENST00000508376.2_Nonsense_Mutation_p.S1346*			P25054	APC_HUMAN	adenomatous polyposis coli	1346	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.S1346*(14)|p.K1192fs*3(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)		TCTTCAGAATCAGCCAGGCAC	0.483		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)																											p.S1328X	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"""	APC,large_intestine,colon,Substitution - Nonsense,0	.	16	Substitution - Nonsense(14)|Unknown(1)|Deletion - Frameshift(1)	large_intestine(14)|soft_tissue(1)|skin(1)	c.C3983A	5						.						59.0	63.0	61.0					5																	112175328		2202	4300	6502	112203227	SO:0001587	stop_gained	324	exon14	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.4037C>A	5.37:g.112175328C>A	ENSP00000413133:p.Ser1346*		112203227	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	41	8.997357	0.99031	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.03	6.03	0.97812	.	0.386425	0.26734	N	0.022770	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.3113	20.1672	0.98154	0.0:1.0:0.0:0.0	.	.	.	.	X	1346	.	.	S	+	2	0	APC	112203227	0.997000	0.39634	0.940000	0.37924	0.981000	0.71138	5.272000	0.65559	2.861000	0.98227	0.655000	0.94253	TCA		0.483	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
SLC12A2	6558	hgsc.bcm.edu	37	5	127484536	127484536	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr5:127484536A>G	ENST00000262461.2	+	12	2161	c.1972A>G	c.(1972-1974)Aca>Gca	p.T658A	SLC12A2_ENST00000343225.4_Missense_Mutation_p.T658A	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	658					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.T658A(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CTACATCTTAACATTCTTAAT	0.333																																					p.T658A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1972G	5						.						186.0	185.0	186.0					5																	127484536		2203	4300	6503	127512435	SO:0001583	missense	6558	exon12				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1972A>G	5.37:g.127484536A>G	ENSP00000262461:p.Thr658Ala		127512435	NM_001046	Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.850978	0.51270	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98914	-5.23;-5.23	4.2	4.2	0.49525	Amino acid permease domain (1);	0.105496	0.64402	D	0.000005	D	0.97773	0.9269	L	0.60455	1.87	0.80722	D	1	P;P	0.46327	0.876;0.832	P;P	0.48368	0.539;0.575	D	0.97279	0.9916	10	0.35671	T	0.21	.	14.367	0.66812	1.0:0.0:0.0:0.0	.	658;658	P55011-3;P55011	.;S12A2_HUMAN	A	658	ENSP00000262461:T658A;ENSP00000340878:T658A	ENSP00000262461:T658A	T	+	1	0	SLC12A2	127512435	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.084000	0.94076	2.138000	0.66242	0.473000	0.43528	ACA		0.333	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046	
FBN2	2201	hgsc.bcm.edu	37	5	127680195	127680195	+	Silent	SNP	A	A	G			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr5:127680195A>G	ENST00000508053.1	-	31	4199	c.3225T>C	c.(3223-3225)aaT>aaC	p.N1075N	FBN2_ENST00000262464.4_Silent_p.N1075N|FBN2_ENST00000508989.1_Silent_p.N1042N			P35556	FBN2_HUMAN	fibrillin 2	1075	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.N1075N(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTTGCATTCATTGATGTCTA	0.403																																					p.N1075N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3225C	5						.						98.0	96.0	97.0					5																	127680195		2203	4300	6503	127708094	SO:0001819	synonymous_variant	2201	exon25			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3225T>C	5.37:g.127680195A>G			127708094	NM_001999	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																				0.403	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
DNAH5	1767	hgsc.bcm.edu	37	5	13923452	13923452	+	Silent	SNP	C	C	T			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr5:13923452C>T	ENST00000265104.4	-	4	479	c.375G>A	c.(373-375)ggG>ggA	p.G125G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	125	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G125G(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACACACATACCCCAGTAAGAG	0.468									Kartagener syndrome																												p.G125G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G375A	5						.						244.0	230.0	235.0					5																	13923452		2203	4300	6503	13976452	SO:0001819	synonymous_variant	1767	exon4	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.375G>A	5.37:g.13923452C>T			13976452	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																				0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
SLC45A2	51151	hgsc.bcm.edu	37	5	33947441	33947441	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr5:33947441C>A	ENST00000296589.4	-	6	1341	c.1195G>T	c.(1195-1197)Ggt>Tgt	p.G399C	SLC45A2_ENST00000382102.3_Missense_Mutation_p.G399C|SLC45A2_ENST00000342059.3_Missense_Mutation_p.G340C	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	399					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.G399C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AAGTAAAGACCCTTTAATCCA	0.453																																					p.G399C	Ovarian(31;380 859 8490 22203 49048)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1195T	5						.						109.0	111.0	110.0					5																	33947441		2203	4300	6503	33983198	SO:0001583	missense	51151	exon6			AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1195G>T	5.37:g.33947441C>A	ENSP00000296589:p.Gly399Cys		33983198	NM_001012509	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654428	0.88056	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	5.62	5.62	0.85841	Major facilitator superfamily domain, general substrate transporter (1);	0.048947	0.85682	D	0.000000	D	0.95987	0.8693	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.72075	0.976;0.932	D	0.94864	0.8024	10	0.38643	T	0.18	-14.3093	19.6445	0.95771	0.0:1.0:0.0:0.0	.	399;399	Q9UMX9-4;Q9UMX9	.;S45A2_HUMAN	C	399;340;399;224	ENSP00000296589:G399C;ENSP00000341014:G340C;ENSP00000371534:G399C;ENSP00000424010:G224C	ENSP00000296589:G399C	G	-	1	0	SLC45A2	33983198	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.830000	0.69324	2.646000	0.89796	0.655000	0.94253	GGT		0.453	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180	
FBXO4	26272	hgsc.bcm.edu	37	5	41941371	41941371	+	Silent	SNP	G	G	A			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr5:41941371G>A	ENST00000281623.3	+	7	1208	c.1152G>A	c.(1150-1152)aaG>aaA	p.K384K	FBXO4_ENST00000509134.1_3'UTR	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	384					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)	p.K384K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TGGAATCTAAGCGTGCAAGAT	0.403																																					p.K384K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1152A	5						.						128.0	122.0	124.0					5																	41941371		2203	4300	6503	41977128	SO:0001819	synonymous_variant	26272	exon7			AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.1152G>A	5.37:g.41941371G>A			41977128	NM_012176	Q68CU8|Q86VT8|Q9UK98	Silent	SNP	ENST00000281623.3	37	CCDS3938.1																																																																																				0.403	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1		
MSH3	4437	hgsc.bcm.edu	37	5	80063887	80063887	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr5:80063887C>T	ENST00000265081.6	+	14	2112	c.2032C>T	c.(2032-2034)Ctc>Ttc	p.L678F		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	678					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)	p.L669F(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AATTCCTGAACTCCTCAGTCC	0.388								Mismatch excision repair (MMR)																													p.L678F	Melanoma(88;1010 1399 13793 26548 36275)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2032T	5						.						102.0	103.0	103.0					5																	80063887		2203	4299	6502	80099643	SO:0001583	missense	4437	exon14			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2032C>T	5.37:g.80063887C>T	ENSP00000265081:p.Leu678Phe		80099643	NM_002439	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387305	0.42308	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.93307	-3.2	5.73	4.83	0.62350	DNA mismatch repair protein MutS, core (3);	0.118440	0.64402	D	0.000013	D	0.93341	0.7877	L	0.39566	1.225	0.37044	D	0.897283	D	0.69078	0.997	D	0.67103	0.949	D	0.93021	0.6440	9	.	.	.	-8.8713	8.0525	0.30585	0.2855:0.6417:0.0:0.0728	.	678	P20585	MSH3_HUMAN	F	678;669	ENSP00000265081:L678F	.	L	+	1	0	MSH3	80099643	1.000000	0.71417	0.415000	0.26534	0.476000	0.33039	2.367000	0.44213	1.493000	0.48517	0.655000	0.94253	CTC		0.388	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439	
MYOT	9499	hgsc.bcm.edu	37	5	137219151	137219151	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3544-01A-01W-0831-10	TCGA-AA-3544-10A-01W-0831-10	g.chr5:137219151A>G	ENST00000239926.4	+	7	1269	c.895A>G	c.(895-897)Ata>Gta	p.I299V	MYOT_ENST00000515645.1_Missense_Mutation_p.I184V|MYOT_ENST00000421631.2_Missense_Mutation_p.I115V|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000508281.2_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	299	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.I299V(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCACAAAATGATAGTGTCTGA	0.433																																					p.I299V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A895G	5						.						135.0	126.0	129.0					5																	137219151		2203	4300	6503	137247050	SO:0001583	missense	9499	exon7			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.895A>G	5.37:g.137219151A>G	ENSP00000239926:p.Ile299Val		137247050	NM_006790	A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.638938	0.67130	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.65732	-0.17;-0.17;-0.17	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.59197	0.2176	L	0.37630	1.12	0.45403	D	0.998384	P	0.47677	0.899	P	0.50405	0.64	T	0.56486	-0.7971	10	0.30078	T	0.28	.	11.2017	0.48745	0.8465:0.1535:0.0:0.0	.	299	Q9UBF9	MYOTI_HUMAN	V	299;115;184	ENSP00000239926:I299V;ENSP00000391185:I115V;ENSP00000426281:I184V	ENSP00000239926:I299V	I	+	1	0	MYOT	137247050	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.488000	0.60300	2.021000	0.59480	0.533000	0.62120	ATA		0.433	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790	
