#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
OGT	8473	hgsc.bcm.edu	37	X	70775084	70775085	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	-	-	-	CC	-	-	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chrX:70775084_70775085insCC	ENST00000373719.3	+	7	990_991	c.773_774insCC	c.(772-777)cacgcafs	p.A259fs	OGT_ENST00000373701.3_Frame_Shift_Ins_p.A249fs	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	259					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)	p.A249fs*17(1)|p.A259fs*17(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AGTCCAAATCACGCAGTGGTGC	0.48																																					p.H248fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.743_744insCC	X						.																																			70691810	SO:0001589	frameshift_variant	8473	exon7			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	Exception_encountered	X.37:g.70775084_70775085insCC	ENSP00000362824:p.Ala259fs	Somatic		Capture	SOLID	Phase_I	70691809	NM_181673	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Frame_Shift_Ins	INS	ENST00000373719.3	37	CCDS14414.1																																																																																				0.480	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672	
SEMA3E	9723	hgsc.bcm.edu	37	7	83021940	83021940	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr7:83021940C>T	ENST00000307792.3	-	14	2065	c.1598G>A	c.(1597-1599)cGa>cAa	p.R533Q	SEMA3E_ENST00000427262.1_Missense_Mutation_p.R473Q	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	533					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.R533Q(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GTAAGGGTCTCGAGCCAGGCA	0.498																																					p.R533Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1598A	7						.						129.0	109.0	116.0					7																	83021940		2203	4300	6503	82859876	SO:0001583	missense	9723	exon14			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1598G>A	7.37:g.83021940C>T	ENSP00000303212:p.Arg533Gln	Somatic		Capture	SOLID	Phase_I	82859876	NM_012431	B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	36	5.662379	0.96734	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.25414	1.8;1.8	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.57929	-0.7726	10	0.66056	D	0.02	.	19.3565	0.94416	0.0:1.0:0.0:0.0	.	533	O15041	SEM3E_HUMAN	Q	533;473;533	ENSP00000303212:R533Q;ENSP00000405052:R473Q	ENSP00000303212:R533Q	R	-	2	0	SEMA3E	82859876	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.750000	0.85110	2.652000	0.90054	0.585000	0.79938	CGA		0.498	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	
ABCB4	5244	hgsc.bcm.edu	37	7	87083892	87083892	+	Silent	SNP	C	C	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr7:87083892C>T	ENST00000265723.4	-	5	414	c.303G>A	c.(301-303)tcG>tcA	p.S101S	ABCB4_ENST00000358400.3_Silent_p.S101S|ABCB4_ENST00000359206.3_Silent_p.S101S|ABCB4_ENST00000545634.1_Silent_p.S101S|ABCB4_ENST00000453593.1_Silent_p.S101S	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	101	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.S101S(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GATTTAGCAGCGACAAGGAAA	0.264																																					p.S101S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G303A	7						.						40.0	44.0	42.0					7																	87083892		2202	4294	6496	86921828	SO:0001819	synonymous_variant	5244	exon5			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.303G>A	7.37:g.87083892C>T		Somatic		Capture	SOLID	Phase_I	86921828	NM_018849	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	CCDS5606.1																																																																																				0.264	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
TMEM130	222865	hgsc.bcm.edu	37	7	98460911	98460911	+	Silent	SNP	G	G	A			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr7:98460911G>A	ENST00000416379.2	-	2	202	c.198C>T	c.(196-198)gaC>gaT	p.D66D	TMEM130_ENST00000450876.1_De_novo_Start_OutOfFrame|TMEM130_ENST00000546258.1_Silent_p.D47D|TMEM130_ENST00000339375.4_Silent_p.D66D|TMEM130_ENST00000345589.4_Intron			Q8N3G9	TM130_HUMAN	transmembrane protein 130	66						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.D66D(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGAGGTGGGCGTCAGCGGGCA	0.652																																					p.D66D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C198T	7						.						54.0	51.0	52.0					7																	98460911		2203	4300	6503	98298847	SO:0001819	synonymous_variant	222865	exon2				CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.198C>T	7.37:g.98460911G>A		Somatic		Capture	SOLID	Phase_I	98298847	NM_001134450	A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Silent	SNP	ENST00000416379.2	37	CCDS47650.1																																																																																				0.652	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913	
EPHA1	2041	hgsc.bcm.edu	37	7	143088818	143088818	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr7:143088818C>T	ENST00000275815.3	-	17	2833	c.2747G>A	c.(2746-2748)cGa>cAa	p.R916Q	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	916	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.R916Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGAGACGGTTCGATATGGGAT	0.582																																					p.R916Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2747A	7						.						83.0	63.0	70.0					7																	143088818		2203	4300	6503	142798940	SO:0001583	missense	2041	exon17			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2747G>A	7.37:g.143088818C>T	ENSP00000275815:p.Arg916Gln	Somatic		Capture	SOLID	Phase_I	142798940	NM_005232	A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726943	0.48833	.	.	ENSG00000146904	ENST00000275815	T	0.49139	0.79	4.67	4.67	0.58626	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.46758	D	0.000274	T	0.58949	0.2158	L	0.33245	0.995	0.38179	D	0.93956	D	0.89917	1.0	D	0.76071	0.987	T	0.61821	-0.6984	10	0.44086	T	0.13	.	18.1442	0.89649	0.0:1.0:0.0:0.0	.	916	P21709	EPHA1_HUMAN	Q	916	ENSP00000275815:R916Q	ENSP00000275815:R916Q	R	-	2	0	EPHA1	142798940	0.931000	0.31567	0.375000	0.26029	0.004000	0.04260	2.005000	0.40864	2.583000	0.87209	0.561000	0.74099	CGA		0.582	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1		
DDX27	55661	hgsc.bcm.edu	37	20	47860196	47860196	+	Silent	SNP	C	C	A			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr20:47860196C>A	ENST00000371764.4	+	20	2337	c.2328C>A	c.(2326-2328)ggC>ggA	p.G776G	ZNFX1_ENST00000469991.1_Intron|ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	776						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.G776G(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AACAGTTGGGCTTGCCCCACC	0.453																																					p.G776G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2328A	20						.						89.0	89.0	89.0					20																	47860196		2203	4300	6503	47293603	SO:0001819	synonymous_variant	55661	exon20			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.2328C>A	20.37:g.47860196C>A		Somatic		Capture	SOLID	Phase_I	47293603	NM_017895	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Silent	SNP	ENST00000371764.4	37	CCDS13416.1																																																																																				0.453	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1		
SALL2	6297	hgsc.bcm.edu	37	14	21992636	21992636	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr14:21992636C>T	ENST00000327430.3	-	2	1520	c.1226G>A	c.(1225-1227)cGt>cAt	p.R409H	SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Missense_Mutation_p.R272H|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	409					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.R409H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGTGGTAAAACGGTTTCCACA	0.537																																					p.R409H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1226A	14						.						124.0	103.0	110.0					14																	21992636		2203	4300	6503	21062476	SO:0001583	missense	6297	exon2			AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1226G>A	14.37:g.21992636C>T	ENSP00000333537:p.Arg409His	Somatic		Capture	SOLID	Phase_I	21062476	NM_005407	B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.160985|4.160985	0.78226|0.78226	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000450879;ENST00000541876|ENST00000546363	T;T|.	0.53640|.	0.61;0.61|.	4.63|4.63	4.63|4.63	0.57726|0.57726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.38111|.	N|.	0.001809|.	T|T	0.55893|0.55893	0.1949|0.1949	L|L	0.33093|0.33093	0.98|0.98	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.999;0.999;0.999|.	T|T	0.51896|0.51896	-0.8647|-0.8647	10|5	0.87932|.	D|.	0|.	-36.6116|-36.6116	15.0135|15.0135	0.71567|0.71567	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	272;272;407;409|.	B4DK65;E7EW59;B4DFD9;Q9Y467|.	.;.;.;SALL2_HUMAN|.	H|I	409;272;409|268	ENSP00000333537:R409H;ENSP00000396773:R272H|.	ENSP00000333537:R409H|.	R|V	-|-	2|1	0|0	SALL2|SALL2	21062476|21062476	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	7.651000|7.651000	0.83577|0.83577	2.398000|2.398000	0.81561|0.81561	0.655000|0.655000	0.94253|0.94253	CGT|GTT		0.537	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407	
EP300	2033	hgsc.bcm.edu	37	22	41523729	41523729	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr22:41523729G>A	ENST00000263253.7	+	4	2364	c.1145G>A	c.(1144-1146)tGc>tAc	p.C382Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	382					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.C382Y(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATGACACACTGCCAGTCAGGC	0.502			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																												p.C382Y			Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1145A	22						.						80.0	73.0	75.0					22																	41523729		2203	4300	6503	39853675	SO:0001583	missense	2033	exon4	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1145G>A	22.37:g.41523729G>A	ENSP00000263253:p.Cys382Tyr	Somatic		Capture	SOLID	Phase_I	39853675	NM_001429	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986047	0.93044	.	.	ENSG00000100393	ENST00000263253	D	0.99382	-5.8	5.89	5.89	0.94794	Zinc finger, TAZ-type (5);	0.000000	0.53938	D	0.000059	D	0.99594	0.9853	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98285	1.0510	10	0.87932	D	0	-5.7726	20.2527	0.98410	0.0:0.0:1.0:0.0	.	382	Q09472	EP300_HUMAN	Y	382	ENSP00000263253:C382Y	ENSP00000263253:C382Y	C	+	2	0	EP300	39853675	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.788000	0.95919	0.557000	0.71058	TGC		0.502	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
MBD3	53615	hgsc.bcm.edu	37	19	1581173	1581173	+	Missense_Mutation	SNP	C	C	T	rs139802061	byFrequency	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr19:1581173C>T	ENST00000434436.3	-	5	724	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000590550.2_Missense_Mutation_p.A143T|UQCR11_ENST00000585937.1_3'UTR|AC005943.4_ENST00000592406.1_RNA|MBD3_ENST00000592012.1_Missense_Mutation_p.A167T|MBD3_ENST00000156825.1_Missense_Mutation_p.A199T	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	199					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)	p.A199T(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCTCCACGGCGGCCGAGAGC	0.657																																					p.A199T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G595A	19						.	C	THR/ALA	0,4406		0,0,2203	88.0	69.0	75.0		595	5.0	0.9	19	dbSNP_134	75	2,8598	2.2+/-6.3	0,2,4298	no	missense	MBD3	NM_003926.5	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	199/292	1581173	2,13004	2203	4300	6503	1532173	SO:0001583	missense	53615	exon5			AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.595G>A	19.37:g.1581173C>T	ENSP00000412302:p.Ala199Thr	Somatic		Capture	SOLID	Phase_I	1532173	NM_003926	A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Missense_Mutation	SNP	ENST00000434436.3	37	CCDS12072.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095002	0.76870	0.0	2.33E-4	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.98701	-5.08	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.97907	0.9312	L	0.41124	1.26	0.58432	D	0.999999	D;P	0.67145	0.996;0.867	P;B	0.53760	0.734;0.396	D	0.98427	1.0580	10	0.51188	T	0.08	-32.1302	17.2094	0.86927	0.0:1.0:0.0:0.0	.	167;199	O95983-2;O95983	.;MBD3_HUMAN	T	167;199	ENSP00000156825:A199T	ENSP00000156825:A199T	A	-	1	0	MBD3	1532173	1.000000	0.71417	0.944000	0.38274	0.694000	0.40290	7.634000	0.83273	2.287000	0.76781	0.462000	0.41574	GCC		0.657	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926	
ZNF536	9745	hgsc.bcm.edu	37	19	31039806	31039806	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr19:31039806G>A	ENST00000355537.3	+	4	3427	c.3280G>A	c.(3280-3282)Ggt>Agt	p.G1094S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1094					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.G1094S(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCAGAAGAGCGGTGCATGGAC	0.542																																					p.G1094S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3280A	19						.						77.0	87.0	84.0					19																	31039806		2203	4300	6503	35731646	SO:0001583	missense	9745	exon4				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3280G>A	19.37:g.31039806G>A	ENSP00000347730:p.Gly1094Ser	Somatic		Capture	SOLID	Phase_I	35731646	NM_014717	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	0.580	-0.837500	0.02692	.	.	ENSG00000198597	ENST00000355537	T	0.08458	3.09	5.63	-0.537	0.11872	.	0.438150	0.25636	N	0.029303	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B;B	0.20052	0.004;0.041	B;B	0.10450	0.002;0.005	T	0.41698	-0.9494	10	0.30854	T	0.27	-17.2272	6.5995	0.22693	0.3434:0.0:0.5336:0.1231	.	1094;1094	A7E228;O15090	.;ZN536_HUMAN	S	1094	ENSP00000347730:G1094S	ENSP00000347730:G1094S	G	+	1	0	ZNF536	35731646	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.328000	0.07945	0.326000	0.23384	-0.136000	0.14681	GGT		0.542	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
PNMAL1	55228	hgsc.bcm.edu	37	19	46974222	46974222	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr19:46974222G>A	ENST00000313683.10	-	2	376	c.71C>T	c.(70-72)tCc>tTc	p.S24F	PNMAL1_ENST00000602246.1_Missense_Mutation_p.S24F|PNMAL1_ENST00000438932.2_Missense_Mutation_p.S24F	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	24								p.S24F(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		gaccaacaaggacctgtggat	0.552																																					p.S24F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C71T	19						.						89.0	81.0	84.0					19																	46974222		2203	4300	6503	51666062	SO:0001583	missense	55228	exon2			BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.71C>T	19.37:g.46974222G>A	ENSP00000318131:p.Ser24Phe	Somatic		Capture	SOLID	Phase_I	51666062	NM_018215	A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	ENST00000313683.10	37	CCDS33059.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224531	0.58668	.	.	ENSG00000182013	ENST00000438932;ENST00000313683;ENST00000417103	T;T	0.14266	2.52;2.52	3.94	1.76	0.24704	.	0.617545	0.13581	N	0.377347	T	0.32346	0.0826	M	0.77820	2.39	0.21256	N	0.999743	D;D	0.65815	0.983;0.995	P;P	0.61201	0.698;0.885	T	0.06770	-1.0808	10	0.62326	D	0.03	-7.7257	10.3979	0.44211	0.0:0.3864:0.6136:0.0	.	24;24	Q86V59-2;Q86V59	.;PNML1_HUMAN	F	24	ENSP00000410273:S24F;ENSP00000318131:S24F	ENSP00000318131:S24F	S	-	2	0	PNMAL1	51666062	0.736000	0.28164	0.352000	0.25734	0.683000	0.39861	1.746000	0.38288	0.610000	0.30035	0.655000	0.94253	TCC		0.552	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215	
SLC17A7	57030	hgsc.bcm.edu	37	19	49937050	49937050	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr19:49937050G>A	ENST00000221485.3	-	7	971	c.800C>T	c.(799-801)tCg>tTg	p.S267L	SLC17A7_ENST00000543531.1_Missense_Mutation_p.S255L|SLC17A7_ENST00000600601.1_Missense_Mutation_p.S200L	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	267					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)	p.S267L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CTCCTCCTCCGAGATGCTGGG	0.652																																					p.S267L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C800T	19						.						61.0	53.0	56.0					19																	49937050		2203	4300	6503	54628862	SO:0001583	missense	57030	exon7			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.800C>T	19.37:g.49937050G>A	ENSP00000221485:p.Ser267Leu	Somatic		Capture	SOLID	Phase_I	54628862	NM_020309	B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.246487	0.80024	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.59502	0.26;0.26	4.4	4.4	0.53042	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.50627	D	0.000113	T	0.60431	0.2268	M	0.77820	2.39	0.58432	D	0.999992	P;P	0.40638	0.586;0.725	B;B	0.39152	0.248;0.292	T	0.70019	-0.4987	10	0.87932	D	0	.	14.8847	0.70557	0.0:0.0:1.0:0.0	.	200;267	B4DFR9;Q9P2U7	.;VGLU1_HUMAN	L	267;255	ENSP00000221485:S267L;ENSP00000441767:S255L	ENSP00000221485:S267L	S	-	2	0	SLC17A7	54628862	1.000000	0.71417	0.965000	0.40720	0.988000	0.76386	7.644000	0.83416	2.463000	0.83235	0.556000	0.70494	TCG		0.652	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2		
VAV1	7409	hgsc.bcm.edu	37	19	6829915	6829915	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr19:6829915C>T	ENST00000602142.1	+	14	1466	c.1384C>T	c.(1384-1386)Cga>Tga	p.R462*	VAV1_ENST00000596764.1_Nonsense_Mutation_p.R430*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.R365*|VAV1_ENST00000304076.2_Nonsense_Mutation_p.R462*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.R407*	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	462	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R462R(1)|p.R462*(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TTCAGGAGACCGAGACAACAA	0.552																																					p.R462X												.	.	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C1384T	19						.						116.0	102.0	107.0					19																	6829915		2203	4300	6503	6780915	SO:0001587	stop_gained	7409	exon14				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1384C>T	19.37:g.6829915C>T	ENSP00000472929:p.Arg462*	Somatic		Capture	SOLID	Phase_I	6780915	NM_005428	B4DVK9|M0QXX6|Q15860	Nonsense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778769	0.49891	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	.	.	.	4.92	-4.34	0.03666	.	0.141877	0.43747	D	0.000529	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	10.6093	0.45412	0.6871:0.238:0.0:0.0748	.	.	.	.	X	462;365	.	ENSP00000302269:R462X	R	+	1	2	VAV1	6780915	0.002000	0.14202	0.016000	0.15963	0.012000	0.07955	0.323000	0.19593	-0.385000	0.07833	-1.047000	0.02352	CGA		0.552	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		
NLRP7	199713	hgsc.bcm.edu	37	19	55451582	55451582	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr19:55451582G>A	ENST00000590030.1	-	3	645	c.605C>T	c.(604-606)cCg>cTg	p.P202L	NLRP7_ENST00000340844.2_Missense_Mutation_p.P202L|NLRP7_ENST00000592784.1_Missense_Mutation_p.P202L|NLRP7_ENST00000588756.1_Missense_Mutation_p.P202L|NLRP7_ENST00000448121.2_Missense_Mutation_p.P202L|NLRP7_ENST00000446217.1_Missense_Mutation_p.P230L|NLRP7_ENST00000328092.5_Missense_Mutation_p.P202L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	202	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.P202L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCTGAGCGTCGGGCTGAGGTT	0.587																																					p.P202L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C605T	19						.						112.0	108.0	110.0					19																	55451582		2203	4300	6503	60143394	SO:0001583	missense	199713	exon4			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.605C>T	19.37:g.55451582G>A	ENSP00000465520:p.Pro202Leu	Somatic		Capture	SOLID	Phase_I	60143394	NM_139176	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	G	6.570	0.473532	0.12521	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	1.88	-3.43	0.04810	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.55955	0.1953	N	0.17474	0.49	0.09310	N	1	B;B;B;B	0.25609	0.13;0.13;0.13;0.106	B;B;B;B	0.20577	0.03;0.03;0.03;0.017	T	0.38373	-0.9664	9	0.56958	D	0.05	.	4.2637	0.10752	0.0:0.2627:0.328:0.4093	.	230;202;202;202	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	L	202;202;202;230	ENSP00000329568:P202L;ENSP00000409137:P202L;ENSP00000339491:P202L;ENSP00000414273:P230L	ENSP00000329568:P202L	P	-	2	0	NLRP7	60143394	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.782000	0.01772	-1.134000	0.02899	-0.521000	0.04368	CCG		0.587	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
ADHFE1	137872	hgsc.bcm.edu	37	8	67372555	67372555	+	Missense_Mutation	SNP	G	G	A	rs144952353		TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr8:67372555G>A	ENST00000396623.3	+	13	1206	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H	C8orf46_ENST00000482608.2_3'UTR|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.R344H	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	392					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)	p.R344H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCCGACACCCGCACTGCCAGG	0.517											OREG0018808	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R392H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1175A	8						.	A	HIS/ARG	0,4406		0,0,2203	102.0	105.0	104.0		1175	3.0	1.0	8	dbSNP_134	104	2,8598	1.2+/-3.3	0,2,4298	yes	missense	ADHFE1	NM_144650.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	392/468	67372555	2,13004	2203	4300	6503	67535109	SO:0001583	missense	137872	exon13			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.1175G>A	8.37:g.67372555G>A	ENSP00000379865:p.Arg392His	Somatic	1099	Capture	SOLID	Phase_I	67535109	NM_144650	B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	g	10.81	1.455134	0.26161	0.0	2.33E-4	ENSG00000147576	ENST00000396623;ENST00000415254	T;T	0.42900	0.96;0.96	5.71	2.99	0.34606	Alcohol dehydrogenase, iron-type (1);	0.210048	0.50627	N	0.000108	T	0.35711	0.0941	L	0.48362	1.52	0.80722	D	1	B	0.16396	0.017	B	0.18561	0.022	T	0.12682	-1.0538	10	0.51188	T	0.08	-11.3411	11.0998	0.48168	0.1995:0.0:0.8005:0.0	.	392	Q8IWW8	HOT_HUMAN	H	392;344	ENSP00000379865:R392H;ENSP00000407115:R344H	ENSP00000379865:R392H	R	+	2	0	ADHFE1	67535109	1.000000	0.71417	0.991000	0.47740	0.011000	0.07611	2.177000	0.42509	0.364000	0.24374	-0.213000	0.12676	CGC		0.517	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650	
CNGB3	54714	hgsc.bcm.edu	37	8	87645092	87645092	+	Missense_Mutation	SNP	C	C	G	rs147876778	byFrequency	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr8:87645092C>G	ENST00000320005.5	-	11	1255	c.1208G>C	c.(1207-1209)cGa>cCa	p.R403P		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	403			R -> Q (in macular degeneration; dbSNP:rs147876778). {ECO:0000269|PubMed:15712225}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R403P(1)|p.R403L(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AATTAAAGTTCGAACTGCCCA	0.328																																					p.R403P												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1208C	8	GRCh37	CM043918	CNGB3	M	rs147876778	.						63.0	63.0	63.0					8																	87645092		2203	4300	6503	87714208	SO:0001583	missense	54714	exon11			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1208G>C	8.37:g.87645092C>G	ENSP00000316605:p.Arg403Pro	Somatic		Capture	SOLID	Phase_I	87714208	NM_019098	C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639340	0.67244	.	.	ENSG00000170289	ENST00000320005	D	0.97480	-4.4	5.12	5.12	0.69794	.	0.270404	0.30043	N	0.010558	D	0.98235	0.9416	M	0.76574	2.34	0.51482	D	0.999929	D;P	0.76494	0.999;0.566	D;B	0.70935	0.971;0.446	D	0.98737	1.0715	10	0.54805	T	0.06	.	18.9236	0.92536	0.0:1.0:0.0:0.0	.	403;403	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	P	403	ENSP00000316605:R403P	ENSP00000316605:R403P	R	-	2	0	CNGB3	87714208	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.175000	0.50855	2.543000	0.85770	0.591000	0.81541	CGA		0.328	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	
SLC26A7	115111	hgsc.bcm.edu	37	8	92352765	92352765	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr8:92352765A>T	ENST00000276609.3	+	8	1251	c.1012A>T	c.(1012-1014)Att>Ttt	p.I338F	SLC26A7_ENST00000309536.2_Missense_Mutation_p.I338F|SLC26A7_ENST00000523719.1_Missense_Mutation_p.I338F	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.I338F(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CAAATATTCAATTGATGACAA	0.473																																					p.I338F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1012T	8						.						89.0	82.0	84.0					8																	92352765		2203	4300	6503	92421941	SO:0001583	missense	115111	exon8			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1012A>T	8.37:g.92352765A>T	ENSP00000276609:p.Ile338Phe	Somatic		Capture	SOLID	Phase_I	92421941	NM_134266		Missense_Mutation	SNP	ENST00000276609.3	37	CCDS6254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.86|15.86	2.957379|2.957379	0.53400|0.53400	.|.	.|.	ENSG00000147606|ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536|ENST00000520818	D;D;D|.	0.93859|.	-3.3;-3.3;-3.3|.	5.72|5.72	4.84|4.84	0.62591|0.62591	Sulphate transporter (1);|.	0.076944|.	0.53938|.	D|.	0.000050|.	T|T	0.63558|0.63558	0.2521|0.2521	M|M	0.76328|0.76328	2.33|2.33	0.32066|0.32066	N|N	0.595107|0.595107	B;B|.	0.21381|.	0.045;0.055|.	B;B|.	0.27170|.	0.046;0.077|.	T|T	0.71196|0.71196	-0.4664|-0.4664	10|5	0.87932|.	D|.	0|.	.|.	11.4114|11.4114	0.49927|0.49927	0.1475:0.0:0.8525:0.0|0.1475:0.0:0.8525:0.0	.|.	338;338|.	Q8TE54-2;Q8TE54|.	.;S26A7_HUMAN|.	F|H	338|205	ENSP00000428849:I338F;ENSP00000276609:I338F;ENSP00000309504:I338F|.	ENSP00000276609:I338F|.	I|Q	+|+	1|3	0|2	SLC26A7|SLC26A7	92421941|92421941	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.212000|2.212000	0.42835|0.42835	1.535000|1.535000	0.49220|0.49220	-0.242000|-0.242000	0.12053|0.12053	ATT|CAA		0.473	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1		
COL22A1	169044	hgsc.bcm.edu	37	8	139734291	139734291	+	Silent	SNP	C	C	A	rs374425269	byFrequency	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr8:139734291C>A	ENST00000303045.6	-	26	2735	c.2289G>T	c.(2287-2289)ccG>ccT	p.P763P	COL22A1_ENST00000341807.4_Intron|COL22A1_ENST00000435777.1_Silent_p.P763P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	763	Collagen-like 5.|Gly-rich.|Pro-rich.			GKDGPNGPPGPPGTK -> CILAAKTAPGLKQLN (in Ref. 2; AAH42075). {ECO:0000305}.	extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P763P(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGTTCCTGGCGGACCTGGTG	0.478										HNSCC(7;0.00092)																											p.P763P												.	.	2	Substitution - coding silent(2)	urinary_tract(1)|large_intestine(1)	c.G2289T	8						.						46.0	38.0	41.0					8																	139734291		2202	4298	6500	139803473	SO:0001819	synonymous_variant	169044	exon26			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2289G>T	8.37:g.139734291C>A		Somatic		Capture	SOLID	Phase_I	139803473	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																				0.478	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
SPAG17	200162	hgsc.bcm.edu	37	1	118537064	118537064	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr1:118537064G>A	ENST00000336338.5	-	35	5208	c.5143C>T	c.(5143-5145)Cgg>Tgg	p.R1715W		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1715						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.R1715W(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GACCTTGACCGGAGATTAGGA	0.428																																					p.R1715W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5143T	1						.						181.0	159.0	166.0					1																	118537064		2203	4299	6502	118338587	SO:0001583	missense	200162	exon35				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5143C>T	1.37:g.118537064G>A	ENSP00000337804:p.Arg1715Trp	Somatic		Capture	SOLID	Phase_I	118338587	NM_206996	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633709	0.67130	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.23754	1.89	5.64	4.73	0.59995	.	0.550723	0.21196	N	0.078551	T	0.10035	0.0246	L	0.27053	0.805	0.30689	N	0.751471	D	0.65815	0.995	B	0.43123	0.409	T	0.03051	-1.1078	10	0.72032	D	0.01	.	11.7236	0.51696	0.0816:0.0:0.9184:0.0	.	1715	Q6Q759	SPG17_HUMAN	W	1715;195	ENSP00000337804:R1715W	ENSP00000337804:R1715W	R	-	1	2	SPAG17	118338587	1.000000	0.71417	0.972000	0.41901	0.735000	0.41995	5.708000	0.68377	1.623000	0.50342	0.650000	0.86243	CGG		0.428	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
TAS1R1	80835	hgsc.bcm.edu	37	1	6636576	6636576	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr1:6636576G>T	ENST00000333172.6	+	4	1555	c.1362G>T	c.(1360-1362)tgG>tgT	p.W454C	TAS1R1_ENST00000328191.4_Intron|TAS1R1_ENST00000351136.3_Missense_Mutation_p.W200C	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	454					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.W454C(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TAATTGCCTGGGACTGGAATG	0.478																																					p.W200C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G600T	1						.						141.0	136.0	137.0					1																	6636576		2203	4300	6503	6559163	SO:0001583	missense	80835	exon3				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1362G>T	1.37:g.6636576G>T	ENSP00000331867:p.Trp454Cys	Somatic		Capture	SOLID	Phase_I	6559163	NM_177540	B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	CCDS81.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.90|18.90	3.720640|3.720640	0.68959|0.68959	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000415267|ENST00000333172;ENST00000437392;ENST00000351136	.|D;T	.|0.86956	.|-2.19;-0.85	5.05|5.05	5.05|5.05	0.67936|0.67936	.|Extracellular ligand-binding receptor (1);	.|0.129983	.|0.56097	.|D	.|0.000023	D|D	0.94686|0.94686	0.8286|0.8286	M|M	0.91972|0.91972	3.26|3.26	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;0.999;1.0	D|D	0.95744|0.95744	0.8786|0.8786	5|10	.|0.87932	.|D	.|0	.|.	15.5748|15.5748	0.76368|0.76368	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|200;200;454	.|Q7RTX1-4;Q7RTX1-2;Q7RTX1	.|.;.;TS1R1_HUMAN	V|C	126|454;122;200	.|ENSP00000331867:W454C;ENSP00000312558:W200C	.|ENSP00000331867:W454C	G|W	+|+	2|3	0|0	TAS1R1|TAS1R1	6559163|6559163	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.872000|0.872000	0.50106|0.50106	8.098000|8.098000	0.89540|0.89540	2.320000|2.320000	0.78422|0.78422	0.591000|0.591000	0.81541|0.81541	GGG|TGG		0.478	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1		
PABPC4	8761	hgsc.bcm.edu	37	1	40034518	40034518	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr1:40034518G>A	ENST00000372857.3	-	6	1624	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	PABPC4_ENST00000529216.1_5'Flank|SNORA55_ENST00000364587.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.R278W|PABPC4_ENST00000372862.3_Missense_Mutation_p.R278W|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.R278W	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	278					blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)	p.R278W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCAAATTTCCGTTTTAACTCT	0.408																																					p.R278W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C832T	1						.						225.0	208.0	214.0					1																	40034518		2203	4300	6503	39807105	SO:0001583	missense	8761	exon6			U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.832C>T	1.37:g.40034518G>A	ENSP00000361948:p.Arg278Trp	Somatic		Capture	SOLID	Phase_I	39807105	NM_001135653	B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	CCDS438.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601073	0.66332	.	.	ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	6.04	1.91	0.25777	.	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	M	0.93978	3.48	0.53688	D	0.999977	P;P;D	0.60575	0.934;0.918;0.988	B;B;P	0.50970	0.303;0.349;0.655	T	0.17745	-1.0359	10	0.87932	D	0	.	10.5916	0.45312	0.0609:0.0:0.4878:0.4512	.	278;278;278	Q13310;Q13310-2;Q4VC03	PABP4_HUMAN;.;.	W	278	ENSP00000361953:R278W;ENSP00000361949:R278W;ENSP00000361948:R278W;ENSP00000361947:R278W	ENSP00000361947:R278W	R	-	1	2	PABPC4	39807105	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	1.798000	0.38814	0.391000	0.25143	0.563000	0.77884	CGG		0.408	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653	
GPBP1L1	60313	hgsc.bcm.edu	37	1	46120963	46120963	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr1:46120963C>G	ENST00000290795.3	-	4	1310	c.89G>C	c.(88-90)gGa>gCa	p.G30A	GPBP1L1_ENST00000355105.3_Missense_Mutation_p.G30A			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	30					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G30A(1)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TAGGTGCTCTCCGTGTTTTTC	0.428																																					p.G30A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G89C	1						.						143.0	138.0	140.0					1																	46120963		2203	4300	6503	45893550	SO:0001583	missense	60313	exon5				CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.89G>C	1.37:g.46120963C>G	ENSP00000290795:p.Gly30Ala	Somatic		Capture	SOLID	Phase_I	45893550	NM_021639	D3DQ10|Q9H751	Missense_Mutation	SNP	ENST00000290795.3	37	CCDS528.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694545	0.68386	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.52526	0.66;0.66	6.17	4.32	0.51571	.	0.049979	0.85682	D	0.000000	T	0.46964	0.1420	L	0.59436	1.845	0.45528	D	0.998483	P	0.35894	0.526	B	0.37346	0.247	T	0.48603	-0.9021	10	0.62326	D	0.03	-25.912	13.3236	0.60447	0.0:0.8725:0.0:0.1275	.	30	Q9HC44	GPBL1_HUMAN	A	30	ENSP00000290795:G30A;ENSP00000347224:G30A	ENSP00000290795:G30A	G	-	2	0	GPBP1L1	45893550	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.507000	0.66999	0.951000	0.37770	0.655000	0.94253	GGA		0.428	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639	
TNN	63923	hgsc.bcm.edu	37	1	175097822	175097822	+	Silent	SNP	C	C	T	rs61740198	byFrequency	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr1:175097822C>T	ENST00000239462.4	+	15	3383	c.3270C>T	c.(3268-3270)ggC>ggT	p.G1090G		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1090	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.G1090G(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACCTGCATGGCGATGCCAGCC	0.607													C|||	59	0.0117812	0.0446	0.0	5008	,	,		17443	0.0		0.0	False		,,,				2504	0.0				p.G1090G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3270T	1						.	C		151,4255	103.8+/-142.4	4,143,2056	97.0	92.0	94.0		3270	-6.7	0.0	1	dbSNP_129	94	1,8599		0,1,4299	no	coding-synonymous	TNN	NM_022093.1		4,144,6355	TT,TC,CC		0.0116,3.4271,1.1687		1090/1300	175097822	152,12854	2203	4300	6503	173364445	SO:0001819	synonymous_variant	63923	exon15			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3270C>T	1.37:g.175097822C>T		Somatic		Capture	SOLID	Phase_I	173364445	NM_022093	B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	CCDS30943.1																																																																																				0.607	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
HTR3A	3359	hgsc.bcm.edu	37	11	113860378	113860378	+	Missense_Mutation	SNP	C	C	T	rs377539661		TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr11:113860378C>T	ENST00000504030.2	+	9	1775	c.1330C>T	c.(1330-1332)Cgc>Tgc	p.R444C	HTR3A_ENST00000375498.2_Missense_Mutation_p.R450C|HTR3A_ENST00000506841.2_Missense_Mutation_p.R476C|HTR3A_ENST00000535865.1_Missense_Mutation_p.R188C|HTR3A_ENST00000299961.5_Missense_Mutation_p.R429C|HTR3A_ENST00000355556.2_Missense_Mutation_p.R482C			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	444	HA-stretch.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.R476C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	AGACTGGCTGCGCGTGGGCTC	0.612																																					p.R450C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1348T	11						.	C	CYS/ARG,CYS/ARG,CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	75.0	70.0	72.0		1348,1285,1444	5.7	1.0	11		72	0,8592		0,0,4296	no	missense,missense,missense	HTR3A	NM_000869.5,NM_001161772.2,NM_213621.3	180,180,180	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	450/485,429/464,482/517	113860378	1,12993	2201	4296	6497	113365588	SO:0001583	missense	3359	exon9			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1330C>T	11.37:g.113860378C>T	ENSP00000424189:p.Arg444Cys	Somatic		Capture	SOLID	Phase_I	113365588	NM_000869	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37		.	.	.	.	.	.	.	.	.	.	C	22.6	4.317109	0.81469	2.27E-4	0.0	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	5.71	5.71	0.89125	.	0.262559	0.37715	N	0.001978	D	0.88945	0.6575	L	0.53249	1.67	0.49213	D	0.999768	D;D;D	0.69078	0.997;0.98;0.997	P;P;P	0.59761	0.79;0.663;0.863	D	0.89593	0.3829	10	0.87932	D	0	-1.6799	14.6719	0.68951	0.1452:0.8548:0.0:0.0	.	429;482;450	B4DSY6;G5E986;Q7KZM7	.;.;.	C	444;482;450;476;188;429	ENSP00000424189:R444C;ENSP00000347754:R482C;ENSP00000364648:R450C;ENSP00000424776:R476C;ENSP00000437776:R188C;ENSP00000299961:R429C	ENSP00000299961:R429C	R	+	1	0	HTR3A	113365588	1.000000	0.71417	0.954000	0.39281	0.535000	0.34838	4.586000	0.60984	2.710000	0.92621	0.655000	0.94253	CGC		0.612	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869	
ILK	3611	hgsc.bcm.edu	37	11	6630580	6630580	+	Silent	SNP	G	G	A	rs147368550	byFrequency	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr11:6630580G>A	ENST00000396751.2	+	7	1125	c.669G>A	c.(667-669)aaG>aaA	p.K223K	ILK_ENST00000526711.1_3'UTR|ILK_ENST00000299421.4_Silent_p.K223K|ILK_ENST00000420936.2_Silent_p.K223K|TAF10_ENST00000531760.1_5'Flank|ILK_ENST00000537806.1_Silent_p.K89K|ILK_ENST00000528995.1_Silent_p.K162K|RP11-732A19.2_ENST00000527398.1_RNA	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	223	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.K223K(1)		central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		AGGTGCTGAAGGTTCGAGACT	0.542																																					p.K223K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G669A	11						.						96.0	92.0	93.0					11																	6630580		2201	4296	6497	6587156	SO:0001819	synonymous_variant	3611	exon8			U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"""Ankyrin repeat domain containing"""	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.669G>A	11.37:g.6630580G>A		Somatic		Capture	SOLID	Phase_I	6587156	NM_004517	B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Silent	SNP	ENST00000396751.2	37	CCDS7768.1																																																																																				0.542	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	NM_004517	
IPO7	10527	hgsc.bcm.edu	37	11	9456484	9456484	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr11:9456484T>C	ENST00000379719.3	+	19	2220	c.2078T>C	c.(2077-2079)aTg>aCg	p.M693T	CTD-2371O3.2_ENST00000531111.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	693					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)	p.M693T(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AATACAGATATGATGCCCCTC	0.323																																					p.M693T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2078C	11						.						111.0	107.0	108.0					11																	9456484		2201	4294	6495	9413060	SO:0001583	missense	10527	exon19			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2078T>C	11.37:g.9456484T>C	ENSP00000369042:p.Met693Thr	Somatic		Capture	SOLID	Phase_I	9413060	NM_006391	A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.074832	0.76415	.	.	ENSG00000205339	ENST00000379719	T	0.65364	-0.15	5.63	5.63	0.86233	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83599	0.5289	M	0.92649	3.33	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.87856	0.2661	10	0.87932	D	0	.	15.8478	0.78905	0.0:0.0:0.0:1.0	.	693	O95373	IPO7_HUMAN	T	693	ENSP00000369042:M693T	ENSP00000369042:M693T	M	+	2	0	IPO7	9413060	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.921000	0.87530	2.157000	0.67596	0.374000	0.22700	ATG		0.323	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391	
INPPL1	3636	hgsc.bcm.edu	37	11	71942167	71942167	+	Silent	SNP	C	C	T	rs374378161		TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr11:71942167C>T	ENST00000298229.2	+	12	1635	c.1431C>T	c.(1429-1431)ggC>ggT	p.G477G	INPPL1_ENST00000538751.1_Silent_p.G235G|INPPL1_ENST00000541756.1_Silent_p.G235G	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	477					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)	p.G477G(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACTCAGTGGGCGACCGCGAGT	0.612																																					p.G477G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1431T	11						.	C		0,4400		0,0,2200	161.0	166.0	164.0		1431	-10.6	0.3	11		164	1,8585		0,1,4292	no	coding-synonymous	INPPL1	NM_001567.3		0,1,6492	TT,TC,CC		0.0116,0.0,0.0077		477/1259	71942167	1,12985	2200	4293	6493	71619815	SO:0001819	synonymous_variant	3636	exon12			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1431C>T	11.37:g.71942167C>T		Somatic		Capture	SOLID	Phase_I	71619815	NM_001567	B2RTX5|Q13577|Q13578	Silent	SNP	ENST00000298229.2	37	CCDS8213.1																																																																																				0.612	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567	
KMT2A	4297	hgsc.bcm.edu	37	11	118371831	118371831	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr11:118371831G>T	ENST00000389506.5	+	25	6279	c.6279G>T	c.(6277-6279)agG>agT	p.R2093S	KMT2A_ENST00000534358.1_Missense_Mutation_p.R2096S|KMT2A_ENST00000354520.4_Missense_Mutation_p.R2055S			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2093					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.R2093S(1)									ATGAAAACAGGACCATTGCCC	0.488																																					p.R2093S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6279T	11						.						164.0	127.0	140.0					11																	118371831		2200	4296	6496	117877041	SO:0001583	missense	4297	exon25			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6279G>T	11.37:g.118371831G>T	ENSP00000374157:p.Arg2093Ser	Somatic		Capture	SOLID	Phase_I	117877041	NM_005933	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909159	0.52439	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82081	-1.57;-1.57;-1.52	5.24	1.22	0.21188	.	0.114511	0.56097	D	0.000034	T	0.80929	0.4718	L	0.59436	1.845	0.53005	D	0.999962	D;B	0.54207	0.965;0.0	P;B	0.52343	0.696;0.001	T	0.73658	-0.3913	10	0.25751	T	0.34	.	5.2978	0.15762	0.3044:0.2519:0.4437:0.0	.	2096;2093	E9PQG7;Q03164	.;MLL1_HUMAN	S	2096;2093;2055;1003	ENSP00000436786:R2096S;ENSP00000374157:R2093S;ENSP00000346516:R2055S	ENSP00000346516:R2055S	R	+	3	2	MLL	117877041	1.000000	0.71417	0.915000	0.36163	0.969000	0.65631	0.881000	0.28173	-0.029000	0.13827	-0.424000	0.05967	AGG		0.488	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
HIST1H3C	8352	hgsc.bcm.edu	37	6	26045654	26045654	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr6:26045654C>G	ENST00000540144.1	+	1	16	c.16C>G	c.(16-18)Caa>Gaa	p.Q6E	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	6					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.Q6E(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						TCGTACGAAGCAAACAGCTCG	0.517																																					p.Q6E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C16G	6						.						49.0	52.0	51.0					6																	26045654		2203	4299	6502	26153633	SO:0001583	missense	8352	exon1			X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.16C>G	6.37:g.26045654C>G	ENSP00000439493:p.Gln6Glu	Somatic		Capture	SOLID	Phase_I	26153633	NM_003531	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000540144.1	37	CCDS4576.1	.	.	.	.	.	.	.	.	.	.	C	9.830	1.188076	0.21954	.	.	ENSG00000196532	ENST00000540144	T	0.44881	0.91	4.67	4.67	0.58626	.	.	.	.	.	T	0.54854	0.1884	.	.	.	0.43168	D	0.99496	.	.	.	.	.	.	T	0.60459	-0.7259	6	0.72032	D	0.01	.	17.4292	0.87534	0.0:1.0:0.0:0.0	.	.	.	.	E	6	ENSP00000439493:Q6E	ENSP00000439493:Q6E	Q	+	1	0	HIST1H3C	26153633	1.000000	0.71417	0.999000	0.59377	0.158000	0.22134	7.685000	0.84117	2.529000	0.85273	0.591000	0.81541	CAA		0.517	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531	
BAI3	577	hgsc.bcm.edu	37	6	69349156	69349156	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr6:69349156A>T	ENST00000370598.1	+	3	1410	c.589A>T	c.(589-591)Acc>Tcc	p.T197S		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	197					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T197S(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TACAAAATGCACCTGCCCTCA	0.463																																					p.T197S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A589T	6						.						68.0	68.0	68.0					6																	69349156		2203	4300	6503	69405877	SO:0001583	missense	577	exon3			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.589A>T	6.37:g.69349156A>T	ENSP00000359630:p.Thr197Ser	Somatic		Capture	SOLID	Phase_I	69405877	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.632747	0.29068	.	.	ENSG00000135298	ENST00000370598	T	0.19105	2.17	5.12	3.93	0.45458	.	0.000000	0.64402	D	0.000001	T	0.03827	0.0108	N	0.24115	0.695	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.27157	-1.0082	10	0.02654	T	1	.	11.3779	0.49739	0.8641:0.0:0.0:0.1359	.	197	O60242	BAI3_HUMAN	S	197	ENSP00000359630:T197S	ENSP00000359630:T197S	T	+	1	0	BAI3	69405877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.068000	0.76748	0.861000	0.35504	0.533000	0.62120	ACC		0.463	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
THBS2	7058	hgsc.bcm.edu	37	6	169625307	169625307	+	Silent	SNP	G	G	A	rs145307568	byFrequency	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr6:169625307G>A	ENST00000366787.3	-	18	2955	c.2706C>T	c.(2704-2706)aaC>aaT	p.N902N	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'Flank	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	902					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.N902N(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ggacgccatcgttgtcatcat	0.602													G|||	2	0.000399361	0.0	0.0014	5008	,	,		19504	0.0		0.001	False		,,,				2504	0.0				p.N902N	Esophageal Squamous(91;219 1934 18562 44706)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2706T	6						.	G		0,4406		0,0,2203	188.0	164.0	172.0		2706	-9.0	0.0	6	dbSNP_134	172	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	THBS2	NM_003247.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		902/1173	169625307	3,13003	2203	4300	6503	169367232	SO:0001819	synonymous_variant	7058	exon18				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2706C>T	6.37:g.169625307G>A		Somatic		Capture	SOLID	Phase_I	169367232	NM_003247	A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	CCDS34574.1																																																																																				0.602	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	
KRT37	8688	hgsc.bcm.edu	37	17	39580422	39580422	+	Silent	SNP	G	G	A			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr17:39580422G>A	ENST00000225550.3	-	1	353	c.354C>T	c.(352-354)taC>taT	p.Y118Y	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	118	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.Y118Y(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CCTTCTCCAGGTAGTTGGCCA	0.587																																					p.Y118Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C354T	17						.						111.0	94.0	100.0					17																	39580422		2203	4300	6503	36833948	SO:0001819	synonymous_variant	8688	exon1			Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.354C>T	17.37:g.39580422G>A		Somatic		Capture	SOLID	Phase_I	36833948	NM_003770		Silent	SNP	ENST00000225550.3	37	CCDS32653.1																																																																																				0.587	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770	
CDC27	996	hgsc.bcm.edu	37	17	45234629	45234629	+	Silent	SNP	C	C	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr17:45234629C>T	ENST00000066544.3	-	6	690	c.597G>A	c.(595-597)gaG>gaA	p.E199E	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Silent_p.E199E|CDC27_ENST00000446365.2_Silent_p.E138E|CDC27_ENST00000527547.1_Silent_p.E199E	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	199					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.E199E(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TAAGAACTGTCTCAGGCTGTC	0.343																																					p.E199E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G597A	17						.						60.0	60.0	60.0					17																	45234629		2203	4300	6503	42589628	SO:0001819	synonymous_variant	996	exon6			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.597G>A	17.37:g.45234629C>T		Somatic		Capture	SOLID	Phase_I	42589628	NM_001114091	G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	CCDS11509.1																																																																																				0.343	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
TP53	7157	hgsc.bcm.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.R175H	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,lung,NS,Substitution - Missense,0	.	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	c.G524A	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578	.						50.0	50.0	50.0					17																	7578406		2203	4300	6503	7519131	SO:0001583	missense	7157	exon5	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	Somatic		Capture	SOLID	Phase_I	7519131	NM_001126114	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
ADAM11	4185	hgsc.bcm.edu	37	17	42854557	42854557	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr17:42854557G>A	ENST00000200557.6	+	21	1874	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	ADAM11_ENST00000535346.1_Missense_Mutation_p.E369K	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	569	Cys-rich.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E569K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CTTCTGCTACGAGAAGCTGAA	0.637																																					p.E569K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1705A	17						.						44.0	47.0	46.0					17																	42854557		2203	4300	6503	40210083	SO:0001583	missense	4185	exon21			D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1705G>A	17.37:g.42854557G>A	ENSP00000200557:p.Glu569Lys	Somatic		Capture	SOLID	Phase_I	40210083	NM_002390	Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398777	0.96030	.	.	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	T;T	0.22336	1.96;1.96	4.43	4.43	0.53597	ADAM, cysteine-rich (2);	0.122762	0.52532	D	0.000068	T	0.39989	0.1099	L	0.60904	1.88	0.80722	D	1	D;D	0.69078	0.987;0.997	P;D	0.63488	0.888;0.915	T	0.09335	-1.0679	10	0.34782	T	0.22	.	16.687	0.85311	0.0:0.0:1.0:0.0	.	369;569	B4DKD2;O75078	.;ADA11_HUMAN	K	569;369;469	ENSP00000200557:E569K;ENSP00000443773:E369K	ENSP00000200557:E569K	E	+	1	0	ADAM11	40210083	1.000000	0.71417	0.992000	0.48379	0.880000	0.50808	9.298000	0.96132	2.405000	0.81733	0.478000	0.44815	GAG		0.637	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390	
ABCA10	10349	hgsc.bcm.edu	37	17	67178330	67178330	+	Silent	SNP	C	C	T	rs369792865		TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr17:67178330C>T	ENST00000269081.4	-	23	3642	c.2733G>A	c.(2731-2733)acG>acA	p.T911T	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	911					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T911T(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GAATAAGCTCCGTGAAGTTAA	0.373																																					p.T911T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2733A	17						.	C		0,4406		0,0,2203	53.0	50.0	51.0		2733	0.2	0.0	17		51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCA10	NM_080282.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		911/1544	67178330	1,13005	2203	4300	6503	64689925	SO:0001819	synonymous_variant	10349	exon23			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2733G>A	17.37:g.67178330C>T		Somatic		Capture	SOLID	Phase_I	64689925	NM_080282	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	CCDS11684.1																																																																																				0.373	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
IL4R	3566	hgsc.bcm.edu	37	16	27367196	27367196	+	Silent	SNP	C	C	T	rs140725309		TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr16:27367196C>T	ENST00000395762.2	+	8	997	c.738C>T	c.(736-738)gcC>gcT	p.A246A	IL4R_ENST00000170630.2_Silent_p.A246A|IL4R_ENST00000543915.2_Silent_p.A246A|IL4R_ENST00000380922.3_Silent_p.A231A|IL4R_ENST00000565915.1_3'UTR	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	246					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.A246A(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TCATCCTGGCCGTCTGCCTGT	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18055	0.0		0.0	False		,,,				2504	0.0				p.A246A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C738T	16						.	C		9,4385	15.5+/-35.6	0,9,2188	139.0	109.0	119.0		738	-0.2	0.0	16	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	IL4R	NM_000418.2		0,9,6488	TT,TC,CC		0.0,0.2048,0.0693		246/826	27367196	9,12985	2197	4300	6497	27274697	SO:0001819	synonymous_variant	3566	exon8			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.738C>T	16.37:g.27367196C>T		Somatic		Capture	SOLID	Phase_I	27274697	NM_000418	B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	ENST00000395762.2	37	CCDS10629.1																																																																																				0.622	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4		
ADAMTS18	170692	hgsc.bcm.edu	37	16	77389928	77389928	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr16:77389928C>A	ENST00000282849.5	-	9	1787	c.1369G>T	c.(1369-1371)Gaa>Taa	p.E457*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	457	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E457*(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATATTGCCTTCAGCCTTTCTG	0.438																																					p.E457X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1369T	16						.						127.0	111.0	116.0					16																	77389928		2198	4300	6498	75947429	SO:0001587	stop_gained	170692	exon9			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1369G>T	16.37:g.77389928C>A	ENSP00000282849:p.Glu457*	Somatic		Capture	SOLID	Phase_I	75947429	NM_199355	Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	41	8.809138	0.98962	.	.	ENSG00000140873	ENST00000282849	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	18.2505	0.90000	0.0:1.0:0.0:0.0	.	.	.	.	X	457	.	ENSP00000282849:E457X	E	-	1	0	ADAMTS18	75947429	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.609000	0.82925	2.865000	0.98341	0.655000	0.94253	GAA		0.438	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
CCDC80	151887	hgsc.bcm.edu	37	3	112358452	112358452	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr3:112358452C>T	ENST00000206423.3	-	2	1254	c.301G>A	c.(301-303)Gcc>Acc	p.A101T	CCDC80_ENST00000439685.2_Missense_Mutation_p.A101T|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	101					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.A101T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GGTCTCACGGCGGCCCCATTG	0.602																																					p.A101T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G301A	3						.						69.0	68.0	69.0					3																	112358452		2203	4300	6503	113841142	SO:0001583	missense	151887	exon2			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.301G>A	3.37:g.112358452C>T	ENSP00000206423:p.Ala101Thr	Somatic		Capture	SOLID	Phase_I	113841142	NM_199511	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	4.454	0.084017	0.08583	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.42513	0.97;0.97	5.35	3.58	0.41010	.	0.628823	0.13991	N	0.348804	T	0.18087	0.0434	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.20887	0.049;0.003;0.012	B;B;B	0.06405	0.002;0.0;0.001	T	0.13255	-1.0516	10	0.35671	T	0.21	-1.2268	5.5881	0.17285	0.0764:0.132:0.6397:0.1519	.	112;101;101	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	T	101	ENSP00000206423:A101T;ENSP00000411814:A101T	ENSP00000206423:A101T	A	-	1	0	CCDC80	113841142	0.001000	0.12720	0.001000	0.08648	0.036000	0.12997	0.593000	0.23999	0.843000	0.35070	-0.139000	0.14373	GCC		0.602	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511	
STAC	6769	hgsc.bcm.edu	37	3	36422216	36422216	+	Silent	SNP	T	T	C	rs73052248	byFrequency	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr3:36422216T>C	ENST00000273183.3	+	1	381	c.81T>C	c.(79-81)tcT>tcC	p.S27S	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Silent_p.S27S	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	27					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)	p.S27S(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AACCGCCCTCTCCTGCATCCA	0.662													T|||	867	0.173123	0.031	0.2579	5008	,	,		14453	0.1994		0.2475	False		,,,				2504	0.2014				p.S27S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T81C	3						.	T		266,4128		12,242,1943	26.0	21.0	23.0		81	-0.7	1.0	3	dbSNP_130	23	1974,6604		238,1498,2553	no	coding-synonymous	STAC	NM_003149.1		250,1740,4496	CC,CT,TT		23.0124,6.0537,17.268		27/403	36422216	2240,10732	2197	4289	6486	36397220	SO:0001819	synonymous_variant	6769	exon1			D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.81T>C	3.37:g.36422216T>C		Somatic		Capture	SOLID	Phase_I	36397220	NM_003149	B2R8S8	Silent	SNP	ENST00000273183.3	37	CCDS2662.1																																																																																				0.662	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149	
CADPS	8618	hgsc.bcm.edu	37	3	62570899	62570899	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr3:62570899G>T	ENST00000383710.4	-	8	1887	c.1538C>A	c.(1537-1539)gCt>gAt	p.A513D	CADPS_ENST00000283269.9_Missense_Mutation_p.A513D|CADPS_ENST00000357948.3_Missense_Mutation_p.A513D	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	513					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.A513D(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CATTCGGACAGCAAGTTTGAT	0.448																																					p.A513D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1538A	3						.						200.0	188.0	192.0					3																	62570899		2203	4300	6503	62545939	SO:0001583	missense	8618	exon8			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1538C>A	3.37:g.62570899G>T	ENSP00000373215:p.Ala513Asp	Somatic		Capture	SOLID	Phase_I	62545939	NM_183393	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	33	5.214185	0.95104	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000542833	T;T;T	0.58358	0.35;0.34;0.34	6.04	6.04	0.98038	.	0.055818	0.64402	D	0.000001	T	0.73590	0.3606	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.83275	0.994;0.996;0.996;0.994	T	0.73597	-0.3932	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	513;513;513;513	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	D	513;513;513;513;8	ENSP00000373215:A513D;ENSP00000350632:A513D;ENSP00000283269:A513D	ENSP00000283269:A513D	A	-	2	0	CADPS	62545939	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	GCT		0.448	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
DGKG	1608	hgsc.bcm.edu	37	3	185990068	185990068	+	Silent	SNP	G	G	A			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr3:185990068G>A	ENST00000265022.3	-	11	1514	c.975C>T	c.(973-975)taC>taT	p.Y325Y	DGKG_ENST00000382164.4_Silent_p.Y325Y|DGKG_ENST00000344484.4_Silent_p.Y325Y|DGKG_ENST00000544847.1_Silent_p.Y325Y	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	325					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.Y325Y(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TGGCTTTTGAGTACGTTTTGA	0.453																																					p.Y325Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C975T	3						.						290.0	232.0	252.0					3																	185990068		2203	4300	6503	187472762	SO:0001819	synonymous_variant	1608	exon11			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.975C>T	3.37:g.185990068G>A		Somatic		Capture	SOLID	Phase_I	187472762	NM_001080744	B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	37	CCDS3274.1																																																																																				0.453	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3		
CLEC4D	338339	hgsc.bcm.edu	37	12	8672912	8672912	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr12:8672912C>A	ENST00000299665.2	+	5	668	c.475C>A	c.(475-477)Cag>Aag	p.Q159K		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	159	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.Q159K(1)		large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					TTGGGTGGACCAGACGCCATT	0.408																																					p.Q159K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C475A	12						.						96.0	97.0	96.0					12																	8672912		2203	4300	6503	8564179	SO:0001583	missense	338339	exon5			AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.475C>A	12.37:g.8672912C>A	ENSP00000299665:p.Gln159Lys	Somatic		Capture	SOLID	Phase_I	8564179	NM_080387	Q8N5J5	Missense_Mutation	SNP	ENST00000299665.2	37	CCDS8593.1	.	.	.	.	.	.	.	.	.	.	C	1.906	-0.451880	0.04572	.	.	ENSG00000166527	ENST00000299665	T	0.16597	2.33	4.39	-2.8	0.05823	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.06234	0.0161	N	0.04508	-0.205	0.19300	N	0.999978	B	0.06786	0.001	B	0.11329	0.006	T	0.43393	-0.9394	8	.	.	.	.	7.0248	0.24934	0.5746:0.2046:0.2208:0.0	.	159	Q8WXI8	CLC4D_HUMAN	K	159	ENSP00000299665:Q159K	.	Q	+	1	0	CLEC4D	8564179	0.000000	0.05858	0.450000	0.26969	0.802000	0.45316	-1.056000	0.03489	-0.440000	0.07211	0.643000	0.83706	CAG		0.408	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387	
KRAS	3845	hgsc.bcm.edu	37	12	25378647	25378647	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr12:25378647T>G	ENST00000256078.4	-	4	414	c.351A>C	c.(349-351)aaA>aaC	p.K117N	KRAS_ENST00000311936.3_Missense_Mutation_p.K117N|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000557334.1_Intron	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	117			K -> N (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.K117N(9)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCAAATCACATTTATTTCCTA	0.358		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.K117N	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS,large_intestine,NS,Substitution - Missense,0	.	9	Substitution - Missense(9)	large_intestine(8)|haematopoietic_and_lymphoid_tissue(1)	c.A351C	12						.						164.0	149.0	154.0					12																	25378647		2202	4299	6501	25269914	SO:0001583	missense	3845	exon4	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.351A>C	12.37:g.25378647T>G	ENSP00000256078:p.Lys117Asn	Somatic		Capture	SOLID	Phase_I	25269914	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850395	0.71719	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.94650	-3.48;-2.31	5.52	0.583	0.17417	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.98448	0.9483	H	0.99940	5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.976;0.998	D	0.96017	0.9006	10	0.72032	D	0.01	.	9.1263	0.36816	0.0:0.4112:0.0:0.5888	.	117;117	P01116-2;P01116	.;RASK_HUMAN	N	117	ENSP00000308495:K117N;ENSP00000256078:K117N	ENSP00000256078:K117N	K	-	3	2	KRAS	25269914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.664000	0.25068	0.131000	0.18576	0.477000	0.44152	AAA		0.358	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
DUOX2	50506	hgsc.bcm.edu	37	15	45389555	45389555	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr15:45389555A>C	ENST00000603300.1	-	29	3930	c.3728T>G	c.(3727-3729)cTg>cGg	p.L1243R	DUOX2_ENST00000389039.6_Missense_Mutation_p.L1243R	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1243	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.L1243R(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GAAAGTGGGCAGCTGGATCAG	0.587																																					p.L1243R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3728G	15						.						115.0	108.0	110.0					15																	45389555		2198	4298	6496	43176847	SO:0001583	missense	50506	exon29			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3728T>G	15.37:g.45389555A>C	ENSP00000475084:p.Leu1243Arg	Somatic		Capture	SOLID	Phase_I	43176847	NM_014080	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	A	12.82	2.053634	0.36277	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.37	2.92	0.33932	.	0.211172	0.39210	N	0.001429	T	0.24044	0.0582	N	0.13299	0.325	0.33109	D	0.54024	B	0.21225	0.053	B	0.22880	0.042	T	0.16867	-1.0388	9	0.16420	T	0.52	-5.3292	4.5161	0.11935	0.6003:0.0:0.0911:0.3086	.	1243	Q9NRD8	DUOX2_HUMAN	R	1243	.	ENSP00000373691:L1243R	L	-	2	0	DUOX2	43176847	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	3.711000	0.54868	0.877000	0.35895	0.379000	0.24179	CTG		0.587	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080	
GABPB1	2553	hgsc.bcm.edu	37	15	50570972	50570972	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr15:50570972C>A	ENST00000220429.8	-	9	1213	c.1045G>T	c.(1045-1047)Gct>Tct	p.A349S	GABPB1_ENST00000380877.3_Missense_Mutation_p.A337S|GABPB1_ENST00000543881.1_Missense_Mutation_p.A273S			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	349					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A349S(1)		cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TTCTGAAGAGCTTCTCTCTCC	0.328																																					p.A349S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1045T	15						.						106.0	97.0	100.0					15																	50570972		2196	4295	6491	48358264	SO:0001583	missense	2553	exon9			D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.1045G>T	15.37:g.50570972C>A	ENSP00000220429:p.Ala349Ser	Somatic		Capture	SOLID	Phase_I	48358264	NM_005254	A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	ENST00000220429.8	37	CCDS32239.1	.	.	.	.	.	.	.	.	.	.	C	1.344	-0.593412	0.03771	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881	T;T	0.79141	-1.24;0.79	5.68	4.75	0.60458	.	0.084074	0.52532	D	0.000077	T	0.44180	0.1281	N	0.02011	-0.69	0.80722	D	1	B;B	0.12013	0.005;0.0	B;B	0.08055	0.003;0.001	T	0.44757	-0.9307	10	0.05620	T	0.96	-9.8994	5.192	0.15214	0.0:0.6373:0.1866:0.1761	.	349;337	Q06547;Q06547-2	GABP1_HUMAN;.	S	337;349;273	ENSP00000370259:A349S;ENSP00000442500:A273S	ENSP00000220429:A337S	A	-	1	0	GABPB1	48358264	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	1.525000	0.35953	1.393000	0.46605	0.650000	0.86243	GCT		0.328	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1		
ABHD2	11057	hgsc.bcm.edu	37	15	89738522	89738522	+	Silent	SNP	C	C	A			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr15:89738522C>A	ENST00000352732.5	+	11	1666	c.1146C>A	c.(1144-1146)ggC>ggA	p.G382G	ABHD2_ENST00000355100.3_Silent_p.G382G|ABHD2_ENST00000565973.1_Silent_p.G382G	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	382					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.G382G(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCTTTGAGGGCTCTGTGCTGT	0.552																																					p.G382G	Colon(11;252 417 24570 33239 41878)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1146A	15						.						128.0	114.0	118.0					15																	89738522		2200	4299	6499	87539526	SO:0001819	synonymous_variant	11057	exon11			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.1146C>A	15.37:g.89738522C>A		Somatic		Capture	SOLID	Phase_I	87539526	NM_152924	Q53G48|Q53GU0|Q5FVD9|Q8TC79	Silent	SNP	ENST00000352732.5	37	CCDS10348.1																																																																																				0.552	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2		
ADD1	118	hgsc.bcm.edu	37	4	2877778	2877778	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr4:2877778C>T	ENST00000398129.1	+	1	156	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	ADD1_ENST00000398123.2_Missense_Mutation_p.R46C|ADD1_ENST00000398125.1_Missense_Mutation_p.R46C|ADD1_ENST00000264758.7_Missense_Mutation_p.R46C|ADD1_ENST00000503455.2_Missense_Mutation_p.R46C|ADD1_ENST00000513328.2_Missense_Mutation_p.R46C|ADD1_ENST00000446856.1_Missense_Mutation_p.R46C|ADD1_ENST00000355842.3_Missense_Mutation_p.R46C			P35611	ADDA_HUMAN	adducin 1 (alpha)	46					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)	p.R46C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCAGACCTTCGCCAGGACTT	0.512																																					p.R46C	Esophageal Squamous(71;505 1201 20414 34538 37449)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C136T	4						.						122.0	118.0	119.0					4																	2877778		2203	4300	6503	2847576	SO:0001583	missense	118	exon2			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.136C>T	4.37:g.2877778C>T	ENSP00000381197:p.Arg46Cys	Somatic		Capture	SOLID	Phase_I	2847576	NM_001119	A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060558	0.93846	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000511797;ENST00000513328;ENST00000508277;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.60051	0.2239	M	0.80028	2.48	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.997;1.0;0.988;0.997;0.973	T	0.65492	-0.6155	10	0.87932	D	0	-17.3626	18.4459	0.90683	0.0:1.0:0.0:0.0	.	46;46;46;46;46;46;46	E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;.;ADDA_HUMAN;.;.;.	C	46	ENSP00000264758:R46C;ENSP00000399828:R46C;ENSP00000381193:R46C;ENSP00000421918:R46C;ENSP00000421907:R46C;ENSP00000426700:R46C;ENSP00000423024:R46C;ENSP00000348100:R46C;ENSP00000381191:R46C;ENSP00000381197:R46C	ENSP00000264758:R46C	R	+	1	0	ADD1	2847576	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.526000	0.53509	2.597000	0.87782	0.591000	0.81541	CGC		0.512	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189	
SLC34A2	10568	hgsc.bcm.edu	37	4	25677981	25677981	+	Silent	SNP	C	C	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr4:25677981C>T	ENST00000382051.3	+	13	1733	c.1683C>T	c.(1681-1683)ccC>ccT	p.P561P	SLC34A2_ENST00000504570.1_Silent_p.P560P|SLC34A2_ENST00000503434.1_Silent_p.P560P	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	561					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.P561P(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCGGGGTTCCCGTCGTCTTCA	0.607			T	ROS1	NSCLC																																p.P560P			Dom	yes		4	4p15.2	10568	"""solute carrier family 34 (sodium phosphate), member 2"""		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1680T	4						.						118.0	112.0	114.0					4																	25677981		2203	4300	6503	25287079	SO:0001819	synonymous_variant	10568	exon13			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1683C>T	4.37:g.25677981C>T		Somatic		Capture	SOLID	Phase_I	25287079	NM_001177999	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	CCDS3435.1																																																																																				0.607	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424	
FAM198B	51313	hgsc.bcm.edu	37	4	159092181	159092181	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr4:159092181C>T	ENST00000296530.8	-	2	968	c.347G>A	c.(346-348)aGc>aAc	p.S116N	RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.S116N|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_Missense_Mutation_p.S116N|FAM198B_ENST00000585682.1_Missense_Mutation_p.S116N	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	116						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.S116N(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GGCCGGCTTGCTGCGCTTGGA	0.617																																					p.S116N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G347A	4						.						78.0	75.0	76.0					4																	159092181		2203	4300	6503	159311631	SO:0001583	missense	51313	exon2				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.347G>A	4.37:g.159092181C>T	ENSP00000296530:p.Ser116Asn	Somatic		Capture	SOLID	Phase_I	159311631	NM_001128424	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565860	0.65651	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.31769	1.48;1.48	4.96	4.96	0.65561	.	0.235838	0.44688	D	0.000429	T	0.41305	0.1153	M	0.62723	1.935	0.32232	N	0.573791	P;D;P	0.54601	0.919;0.967;0.874	P;B;B	0.51229	0.663;0.44;0.277	T	0.53802	-0.8387	10	0.46703	T	0.11	-21.3848	13.3866	0.60799	0.1571:0.8429:0.0:0.0	.	116;116;116	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	N	116	ENSP00000296530:S116N;ENSP00000377396:S116N	ENSP00000296530:S116N	S	-	2	0	FAM198B	159311631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.843000	0.39259	2.590000	0.87494	0.655000	0.94253	AGC		0.617	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613	
EDA2R	60401	hgsc.bcm.edu	37	X	65824341	65824341	+	Nonsense_Mutation	SNP	G	G	A	rs141501145		TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chrX:65824341G>A	ENST00000374719.3	-	4	330	c.274C>T	c.(274-276)Cga>Tga	p.R92*	EDA2R_ENST00000253392.5_Nonsense_Mutation_p.R92*|EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000450752.1_Nonsense_Mutation_p.R92*|EDA2R_ENST00000396050.1_Nonsense_Mutation_p.R92*|EDA2R_ENST00000456230.2_Nonsense_Mutation_p.R92*	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	92					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)	p.R92*(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CGTGTCTTTCGGTAGAACCTG	0.512																																					p.R92X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C274T	X						.						207.0	140.0	163.0					X																	65824341		2203	4300	6503	65741066	SO:0001587	stop_gained	60401	exon4			AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"""Tumor necrosis factor receptor superfamily"""	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.274C>T	X.37:g.65824341G>A	ENSP00000363851:p.Arg92*	Somatic		Capture	SOLID	Phase_I	65741066	NM_001199687	Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Nonsense_Mutation	SNP	ENST00000374719.3	37	CCDS14386.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876616	0.91664	.	.	ENSG00000131080	ENST00000374719;ENST00000396050;ENST00000253392;ENST00000456230;ENST00000450752	.	.	.	4.23	2.05	0.26809	.	0.660669	0.12767	U	0.440838	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.1736	3.1639	0.06529	0.1507:0.0:0.4144:0.4348	.	.	.	.	X	92	.	ENSP00000253392:R92X	R	-	1	2	EDA2R	65741066	0.993000	0.37304	0.993000	0.49108	0.975000	0.68041	1.357000	0.34090	1.680000	0.50976	0.600000	0.82982	CGA		0.512	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	NM_021783	
KLHL13	90293	hgsc.bcm.edu	37	X	117043309	117043309	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chrX:117043309C>A	ENST00000262820.3	-	5	2230	c.1321G>T	c.(1321-1323)Gga>Tga	p.G441*	KLHL13_ENST00000545703.1_Nonsense_Mutation_p.G399*|KLHL13_ENST00000541812.1_Nonsense_Mutation_p.G425*|KLHL13_ENST00000371876.1_Nonsense_Mutation_p.G390*|KLHL13_ENST00000371878.1_Nonsense_Mutation_p.G390*|KLHL13_ENST00000539496.1_Nonsense_Mutation_p.G444*|KLHL13_ENST00000540167.1_Nonsense_Mutation_p.G425*|KLHL13_ENST00000469946.1_Nonsense_Mutation_p.G390*|KLHL13_ENST00000371882.1_Nonsense_Mutation_p.G390*	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	441					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)		p.G441*(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TACAGATATCCTTTGAGGGCA	0.388																																					p.G435X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1303T	X						.						47.0	42.0	44.0					X																	117043309		2203	4300	6503	116927337	SO:0001587	stop_gained	90293	exon5			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1321G>T	X.37:g.117043309C>A	ENSP00000262820:p.Gly441*	Somatic		Capture	SOLID	Phase_I	116927337	NM_001168300	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Nonsense_Mutation	SNP	ENST00000262820.3	37	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	C	41	8.863202	0.98982	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.4247	0.87524	0.0:1.0:0.0:0.0	.	.	.	.	X	390;390;390;390;425;425;444;441;399;390	.	ENSP00000262820:G441X	G	-	1	0	KLHL13	116927337	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.297000	0.77311	0.594000	0.82650	GGA		0.388	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495	
ACSL3	2181	hgsc.bcm.edu	37	2	223806250	223806250	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr2:223806250C>T	ENST00000357430.3	+	17	2572	c.2041C>T	c.(2041-2043)Cgt>Tgt	p.R681C	ACSL3_ENST00000392066.3_Missense_Mutation_p.R681C	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	681					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.R681C(5)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AGTAAAAATTCGTTTGAGTCC	0.378			T	ETV1	prostate																																p.R681C			Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	.	.	5	Substitution - Missense(5)	skin(4)|large_intestine(1)	c.C2041T	2						.						67.0	69.0	68.0					2																	223806250		2203	4300	6503	223514494	SO:0001583	missense	2181	exon17			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.2041C>T	2.37:g.223806250C>T	ENSP00000350012:p.Arg681Cys	Somatic		Capture	SOLID	Phase_I	223514494	NM_004457	Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908868	0.52439	.	.	ENSG00000123983	ENST00000357430;ENST00000392066	T;T	0.11495	2.77;2.77	5.79	5.79	0.91817	.	0.104246	0.64402	D	0.000001	T	0.15349	0.0370	L	0.55834	1.745	0.80722	D	1	B	0.21821	0.061	B	0.15870	0.014	T	0.02104	-1.1213	10	0.42905	T	0.14	-15.325	20.0411	0.97590	0.0:1.0:0.0:0.0	.	681	O95573	ACSL3_HUMAN	C	681	ENSP00000350012:R681C;ENSP00000375918:R681C	ENSP00000350012:R681C	R	+	1	0	ACSL3	223514494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.642000	0.61383	2.739000	0.93911	0.655000	0.94253	CGT		0.378	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457	
FAM98A	25940	hgsc.bcm.edu	37	2	33810437	33810437	+	Silent	SNP	C	C	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr2:33810437C>T	ENST00000238823.8	-	8	1103	c.963G>A	c.(961-963)ccG>ccA	p.P321P	FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000441530.2_Silent_p.P126P			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	322							poly(A) RNA binding (GO:0044822)	p.P321P(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					TCTTCTGCCACGGTGGCATCT	0.542																																					p.P321P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G963A	2						.						48.0	45.0	46.0					2																	33810437		2203	4300	6503	33663941	SO:0001819	synonymous_variant	25940	exon8				CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.963G>A	2.37:g.33810437C>T		Somatic		Capture	SOLID	Phase_I	33663941	NM_015475	B2RNA2|Q9Y3Y6	Silent	SNP	ENST00000238823.8	37	CCDS33179.1																																																																																				0.542	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475	
GPR17	2840	hgsc.bcm.edu	37	2	128409013	128409013	+	Missense_Mutation	SNP	G	G	A	rs148246717	byFrequency	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr2:128409013G>A	ENST00000272644.3	+	3	862	c.788G>A	c.(787-789)cGc>cAc	p.R263H	LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.R263H|GPR17_ENST00000544369.1_Missense_Mutation_p.R263H|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000410011.1_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	263					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.R263H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		AAGGCAGTGCGCATGATCGCC	0.627																																					p.R263H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G788A	2						.	G	,,,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,	1,4405		0,1,2202	151.0	124.0	133.0		,,,788,704,704,788,	4.3	1.0	2	dbSNP_134	133	8,8592		0,8,4292	yes	intron,intron,intron,missense,missense,missense,missense,intron	GPR17,LIMS2	NM_001136037.2,NM_001161403.1,NM_001161404.1,NM_001161415.1,NM_001161416.1,NM_001161417.1,NM_005291.2,NM_017980.4	,,,29,29,29,29,	0,9,6494	AA,AG,GG		0.093,0.0227,0.0692	,,,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	,,,263/368,235/340,235/340,263/368,	128409013	9,12997	2203	4300	6503	128125483	SO:0001583	missense	2840	exon3				CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.788G>A	2.37:g.128409013G>A	ENSP00000272644:p.Arg263His	Somatic		Capture	SOLID	Phase_I	128125483	NM_005291	A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Missense_Mutation	SNP	ENST00000272644.3	37	CCDS2148.1	.	.	.	.	.	.	.	.	.	.	.	24.0	4.480430	0.84747	2.27E-4	9.3E-4	ENSG00000144230	ENST00000544369;ENST00000272644;ENST00000393018	T;T;T	0.40225	1.04;1.04;1.04	5.34	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.148935	0.46145	D	0.000312	T	0.49847	0.1581	M	0.67625	2.065	0.52099	D	0.999946	D	0.71674	0.998	P	0.57846	0.828	T	0.55016	-0.8206	10	0.62326	D	0.03	.	3.4736	0.07577	0.3711:0.0:0.6288:0.0	.	263	Q13304	GPR17_HUMAN	H	263	ENSP00000442982:R263H;ENSP00000272644:R263H;ENSP00000376741:R263H	ENSP00000272644:R263H	R	+	2	0	GPR17	128125483	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	5.367000	0.66127	2.504000	0.84457	0.561000	0.74099	CGC		0.627	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1		
HTR2B	3357	hgsc.bcm.edu	37	2	231973985	231973985	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr2:231973985G>T	ENST00000258400.3	-	4	1204	c.692C>A	c.(691-693)gCa>gAa	p.A231E	PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000409643.1_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	231					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.A231E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	AATCATAATTGCAAGAGGTGT	0.438																																					p.A231E	Ovarian(155;1331 1891 12853 14038 34991)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C692A	2						.						109.0	100.0	103.0					2																	231973985		2203	4300	6503	231682229	SO:0001583	missense	3357	exon4				CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5294	protein-coding gene	gene with protein product		601122	"""5-hydroxytryptamine (serotonin) receptor 2B"""			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.692C>A	2.37:g.231973985G>T	ENSP00000258400:p.Ala231Glu	Somatic		Capture	SOLID	Phase_I	231682229	NM_000867	B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	ENST00000258400.3	37	CCDS2483.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504330	0.44558	.	.	ENSG00000135914	ENST00000258400	T	0.39056	1.1	5.95	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.331645	0.36134	N	0.002762	T	0.56426	0.1984	M	0.76838	2.35	0.09310	N	1	P;P	0.34699	0.464;0.464	P;P	0.45343	0.456;0.477	T	0.54483	-0.8287	10	0.51188	T	0.08	.	16.0904	0.81088	0.0:0.3803:0.6197:0.0	.	46;231	B3VRC5;P41595	.;5HT2B_HUMAN	E	231	ENSP00000258400:A231E	ENSP00000258400:A231E	A	-	2	0	HTR2B	231682229	0.080000	0.21391	0.228000	0.23943	0.902000	0.53008	1.843000	0.39259	0.807000	0.34208	0.655000	0.94253	GCA		0.438	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867	
GRIN3A	116443	hgsc.bcm.edu	37	9	104385694	104385694	+	Silent	SNP	G	G	A	rs143827340	byFrequency	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr9:104385694G>A	ENST00000361820.3	-	5	3120	c.2520C>T	c.(2518-2520)gaC>gaT	p.D840D		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	840					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.D840E(1)|p.D840D(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TGATGAAGGCGTCTAGTTTCT	0.423													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19164	0.0		0.0	False		,,,				2504	0.001				p.D840D												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C2520T	9						.	G		1,4405	2.1+/-5.4	0,1,2202	143.0	128.0	133.0		2520	-1.5	1.0	9	dbSNP_134	133	0,8600		0,0,4300	no	coding-synonymous	GRIN3A	NM_133445.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		840/1116	104385694	1,13005	2203	4300	6503	103425515	SO:0001819	synonymous_variant	116443	exon5				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2520C>T	9.37:g.104385694G>A		Somatic		Capture	SOLID	Phase_I	103425515	NM_133445	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	CCDS6758.1																																																																																				0.423	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1		
NIPSNAP3A	25934	hgsc.bcm.edu	37	9	107513401	107513401	+	Silent	SNP	A	A	C			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr9:107513401A>C	ENST00000374767.4	+	2	330	c.225A>C	c.(223-225)gtA>gtC	p.V75V		NM_015469.1	NP_056284.1	Q9UFN0	NPS3A_HUMAN	nipsnap homolog 3A (C. elegans)	75						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V75V(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						ACTGGAGTGTAGAATTTGGAG	0.363																																					p.V75V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A225C	9						.						155.0	160.0	158.0					9																	107513401		2203	4300	6503	106553222	SO:0001819	synonymous_variant	25934	exon2			BC005935	CCDS6760.1	9q31.3	2003-11-27			ENSG00000136783	ENSG00000136783			23619	protein-coding gene	gene with protein product		608871				12477932	Standard	NM_015469		Approved	DKFZp564D177, FLJ13953, HSPC299, MGC14553		Q9UFN0	OTTHUMG00000020413	ENST00000374767.4:c.225A>C	9.37:g.107513401A>C		Somatic		Capture	SOLID	Phase_I	106553222	NM_015469	A6NM55|Q5VX32|Q9BRV7|Q9H843|Q9P083	Silent	SNP	ENST00000374767.4	37	CCDS6760.1																																																																																				0.363	NIPSNAP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053484.1	NM_015469	
COL27A1	85301	hgsc.bcm.edu	37	9	117071681	117071681	+	Missense_Mutation	SNP	C	C	T	rs201559884		TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr9:117071681C>T	ENST00000356083.3	+	60	5750	c.5359C>T	c.(5359-5361)Cgc>Tgc	p.R1787C		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1787	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.R1787C(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCAGGCCGTACGCTTCCGGGC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		13355	0.0		0.001	False		,,,				2504	0.0				p.R1787C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5359T	9						.						80.0	79.0	80.0					9																	117071681		2203	4300	6503	116111502	SO:0001583	missense	85301	exon60			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5359C>T	9.37:g.117071681C>T	ENSP00000348385:p.Arg1787Cys	Somatic		Capture	SOLID	Phase_I	116111502	NM_032888	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.43	3.387297	0.61956	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	T	0.74947	-0.89	6.06	6.06	0.98353	Fibrillar collagen, C-terminal (4);	.	.	.	.	D	0.88112	0.6349	M	0.86502	2.82	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.978;0.997	D	0.86875	0.2038	9	0.38643	T	0.18	.	18.1147	0.89549	0.0:1.0:0.0:0.0	.	102;1787	Q9HAA3;Q8IZC6	.;CORA1_HUMAN	C	1787;1794	ENSP00000348385:R1787C	ENSP00000348385:R1787C	R	+	1	0	COL27A1	116111502	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.892000	0.39748	2.882000	0.98803	0.655000	0.94253	CGC		0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	
SH3GL2	6456	hgsc.bcm.edu	37	9	17786392	17786392	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr9:17786392G>T	ENST00000380607.4	+	4	321	c.201G>T	c.(199-201)aaG>aaT	p.K67N	SH3GL2_ENST00000537391.1_Missense_Mutation_p.K20N	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	67	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Binds and tubulates liposomes. {ECO:0000250}.|Required for dimerization upon membrane association. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.K67N(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		CCAGAGCTAAGCTCAGCATGA	0.532																																					p.K67N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G201T	9						.						91.0	88.0	89.0					9																	17786392		2203	4300	6503	17776392	SO:0001583	missense	6456	exon4			X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.201G>T	9.37:g.17786392G>T	ENSP00000369981:p.Lys67Asn	Somatic		Capture	SOLID	Phase_I	17776392	NM_003026	B2R618|Q9NQK5	Missense_Mutation	SNP	ENST00000380607.4	37	CCDS6483.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776099	0.70107	.	.	ENSG00000107295	ENST00000380607;ENST00000537391	T;T	0.29397	1.57;1.57	6.03	1.54	0.23209	BAR (3);	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	M	0.90650	3.135	0.58432	D	0.999991	D;D	0.61697	0.973;0.99	P;D	0.72338	0.784;0.977	T	0.58999	-0.7536	10	0.87932	D	0	.	9.3117	0.37910	0.6737:0.0:0.3263:0.0	.	32;67	B7Z7W3;Q99962	.;SH3G2_HUMAN	N	67;20	ENSP00000369981:K67N;ENSP00000443365:K20N	ENSP00000369981:K67N	K	+	3	2	SH3GL2	17776392	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.640000	0.37186	0.037000	0.15575	-0.136000	0.14681	AAG		0.532	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026	
COL5A1	1289	hgsc.bcm.edu	37	9	137660300	137660300	+	Silent	SNP	C	C	T	rs372185208		TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr9:137660300C>T	ENST00000371817.3	+	25	2691	c.2277C>T	c.(2275-2277)gaC>gaT	p.D759D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	759	Triple-helical region.			D -> N (in Ref. 4; AA sequence). {ECO:0000305}.	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.D759D(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)		CCGGTGCTGACGGACCCCCGG	0.622																																					p.D759D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2277T	9						.	C		1,4405	2.1+/-5.4	0,1,2202	123.0	126.0	125.0		2277	-4.6	0.5	9		125	0,8600		0,0,4300	no	coding-synonymous	COL5A1	NM_000093.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		759/1839	137660300	1,13005	2203	4300	6503	136800121	SO:0001819	synonymous_variant	1289	exon25			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.2277C>T	9.37:g.137660300C>T		Somatic		Capture	SOLID	Phase_I	136800121	NM_000093	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																				0.622	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
PARP4	143	hgsc.bcm.edu	37	13	25029207	25029207	+	Silent	SNP	C	C	T	rs201350007		TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr13:25029207C>T	ENST00000381989.3	-	22	2811	c.2706G>A	c.(2704-2706)gcG>gcA	p.A902A	PARP4_ENST00000480576.1_5'Flank	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	902	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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.A902A(2)		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)		CCAAGGACAGCGCATGCAAGG	0.517													c|||	1	0.000199681	0.0	0.0	5008	,	,		20131	0.0		0.001	False		,,,				2504	0.0				p.A902A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2706A	13						.						279.0	240.0	253.0					13																	25029207		2203	4300	6503	23927207	SO:0001819	synonymous_variant	143	exon22			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.2706G>A	13.37:g.25029207C>T		Somatic		Capture	SOLID	Phase_I	23927207	NM_006437	O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	CCDS9307.1																																																																																				0.517	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	
POLR1D	51082	hgsc.bcm.edu	37	13	28240029	28240029	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr13:28240029A>G	ENST00000399697.3	+	3	426	c.308A>G	c.(307-309)tAc>tGc	p.Y103C	POLR1D_ENST00000465887.1_3'UTR	NM_001206559.1|NM_152705.2	NP_001193488.1|NP_689918.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.Y103C(1)		endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		TCCGCCAGTTACTCCCCGCCA	0.612																																					p.Y103C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A308G	13						.						62.0	69.0	67.0					13																	28240029		2203	4300	6503	27138029	SO:0001583	missense	51082	exon3			AF077044, BC018528	CCDS9324.1, CCDS9325.1, CCDS73555.1	13q12.2	2013-01-21			ENSG00000186184	ENSG00000186184		"""RNA polymerase subunits"""	20422	protein-coding gene	gene with protein product		613715				11042152, 12391170	Standard	NM_015972		Approved	RPAC2, RPA16, RPO1-3, RPA9, MGC9850	uc001urp.3	Q9Y2S0	OTTHUMG00000016635	ENST00000399697.3:c.308A>G	13.37:g.28240029A>G	ENSP00000382604:p.Tyr103Cys	Somatic		Capture	SOLID	Phase_I	27138029	NM_152705	Q5TBX2|Q96BR3	Missense_Mutation	SNP	ENST00000399697.3	37	CCDS9324.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.885504	0.33255	.	.	ENSG00000186184	ENST00000399697	.	.	.	5.92	-5.47	0.02600	.	1.101510	0.07004	U	0.823918	T	0.21718	0.0523	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.19484	-1.0304	8	0.35671	T	0.21	.	2.7509	0.05280	0.3175:0.3423:0.2446:0.0957	.	103	Q9Y2S0-2	.	C	103	.	ENSP00000382604:Y103C	Y	+	2	0	POLR1D	27138029	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.017000	0.12590	-0.769000	0.04620	0.454000	0.30748	TAC		0.612	POLR1D-004	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044306.1	NM_015972, NM_152705	
POSTN	10631	hgsc.bcm.edu	37	13	38154705	38154705	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr13:38154705G>A	ENST00000379747.4	-	11	1639	c.1522C>T	c.(1522-1524)Cgc>Tgc	p.R508C	POSTN_ENST00000541179.1_Missense_Mutation_p.R508C|POSTN_ENST00000541481.1_Missense_Mutation_p.R508C|POSTN_ENST00000379749.4_Missense_Mutation_p.R508C|POSTN_ENST00000379742.4_Missense_Mutation_p.R508C|POSTN_ENST00000379743.4_Missense_Mutation_p.R508C	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	508	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.R508C(3)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TACCTAAAGCGCTTATCTTGT	0.438																																					p.R508C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C1522T	13						.						279.0	267.0	271.0					13																	38154705		2203	4300	6503	37052705	SO:0001583	missense	10631	exon11			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1522C>T	13.37:g.38154705G>A	ENSP00000369071:p.Arg508Cys	Somatic		Capture	SOLID	Phase_I	37052705	NM_001135934	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047403	0.75846	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95;-2.95	5.02	5.02	0.67125	FAS1 domain (4);	0.290945	0.39475	N	0.001349	D	0.95758	0.8620	M	0.70275	2.135	0.54753	D	0.999982	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.993;0.999;0.996;0.975;0.993	D	0.95922	0.8931	10	0.62326	D	0.03	-9.2511	18.6988	0.91613	0.0:0.0:1.0:0.0	.	508;508;508;508;508;508;508	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	C	508	ENSP00000437959:R508C;ENSP00000369073:R508C;ENSP00000369071:R508C;ENSP00000369067:R508C;ENSP00000369066:R508C;ENSP00000437953:R508C	ENSP00000369066:R508C	R	-	1	0	POSTN	37052705	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.653000	0.61462	2.472000	0.83506	0.557000	0.71058	CGC		0.438	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	
CHAT	1103	hgsc.bcm.edu	37	10	50854615	50854615	+	Silent	SNP	G	G	A	rs200321426		TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr10:50854615G>A	ENST00000337653.2	+	8	1329	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	CHAT_ENST00000395562.2_Silent_p.A310A|CHAT_ENST00000395559.2_Silent_p.A274A|CHAT_ENST00000351556.3_Silent_p.A274A|CHAT_ENST00000339797.1_Silent_p.A274A|CHAT_ENST00000455728.2_Silent_p.A274A	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	392			A -> G. {ECO:0000269|PubMed:11172068, ECO:0000269|PubMed:1337937}.		adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.A392A(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GCCTGGACGCGCCAGGAGGCG	0.642																																					p.A274A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G822A	10						.						99.0	89.0	92.0					10																	50854615		2203	4300	6503	50524621	SO:0001819	synonymous_variant	1103	exon8			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1176G>A	10.37:g.50854615G>A		Somatic		Capture	SOLID	Phase_I	50524621	NM_001142929	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	CCDS7232.1																																																																																				0.642	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549	
KIAA1279	26128	hgsc.bcm.edu	37	10	70765526	70765526	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr10:70765526C>T	ENST00000361983.4	+	4	746	c.644C>T	c.(643-645)gCt>gTt	p.A215V		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	215					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)	p.A215V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						TATTACCTAGCTCAAGTCTAC	0.353																																					p.A215V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C644T	10						.						79.0	73.0	75.0					10																	70765526		2203	4300	6503	70435532	SO:0001583	missense	26128	exon4			BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.644C>T	10.37:g.70765526C>T	ENSP00000354848:p.Ala215Val	Somatic		Capture	SOLID	Phase_I	70435532	NM_015634	A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	ENST00000361983.4	37	CCDS7284.1	.	.	.	.	.	.	.	.	.	.	C	34	5.315864	0.95655	.	.	ENSG00000198954	ENST00000361983	T	0.60299	0.2	5.78	5.78	0.91487	Tetratricopeptide-like helical (1);	0.045120	0.85682	D	0.000000	T	0.78142	0.4237	M	0.78285	2.405	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.79438	-0.1803	10	0.72032	D	0.01	-13.995	19.9997	0.97405	0.0:1.0:0.0:0.0	.	215	Q96EK5	KBP_HUMAN	V	215	ENSP00000354848:A215V	ENSP00000354848:A215V	A	+	2	0	KIAA1279	70435532	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.634000	0.83273	2.717000	0.92951	0.585000	0.79938	GCT		0.353	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1	NM_015634	
KIF20B	9585	hgsc.bcm.edu	37	10	91511168	91511168	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr10:91511168C>G	ENST00000371728.3	+	24	4227	c.4162C>G	c.(4162-4164)Cag>Gag	p.Q1388E	KIF20B_ENST00000260753.4_Missense_Mutation_p.Q1348E|KIF20B_ENST00000416354.1_Missense_Mutation_p.Q1418E|KIF20B_ENST00000394289.2_Missense_Mutation_p.Q1388E|KIF20B_ENST00000478929.1_3'UTR	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1388					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.Q1348E(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GGAACAAACTCAGGTAGAACA	0.338																																					p.Q1348E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4042G	10						.						156.0	162.0	160.0					10																	91511168		2203	4300	6503	91501148	SO:0001583	missense	9585	exon24			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.4162C>G	10.37:g.91511168C>G	ENSP00000360793:p.Gln1388Glu	Somatic		Capture	SOLID	Phase_I	91501148	NM_016195	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	C	26.4	4.730350	0.89390	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;D;T	0.82081	-1.41;-1.47;-1.57;-1.48	5.71	5.71	0.89125	.	0.000000	0.50627	D	0.000118	D	0.91143	0.7211	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	D;D	0.83275	0.991;0.996	D	0.90899	0.4767	10	0.66056	D	0.02	-11.0582	20.2195	0.98323	0.0:1.0:0.0:0.0	.	1388;1348	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	E	1348;1418;1388;1388	ENSP00000260753:Q1348E;ENSP00000411545:Q1418E;ENSP00000377830:Q1388E;ENSP00000360793:Q1388E	ENSP00000260753:Q1348E	Q	+	1	0	KIF20B	91501148	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.932000	0.70121	2.852000	0.98041	0.643000	0.83706	CAG		0.338	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	
CYP2E1	1571	hgsc.bcm.edu	37	10	135350675	135350675	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr10:135350675G>A	ENST00000463117.2	+	9	1348	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	CYP2E1_ENST00000252945.3_Missense_Mutation_p.R359Q|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	359					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.R359Q(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GAGATTCAGCGGTTCATCACC	0.532									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																												p.R359Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1076A	10						.						216.0	149.0	172.0					10																	135350675		2203	4300	6503	135200665	SO:0001583	missense	1571	exon7	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1076G>A	10.37:g.135350675G>A	ENSP00000440689:p.Arg359Gln	Somatic		Capture	SOLID	Phase_I	135200665	NM_000773	Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737219	0.69304	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.98701	0.9564	H	0.95611	3.695	0.38747	D	0.954018	D;D	0.89917	1.0;0.993	P;P	0.60682	0.878;0.47	D	0.99932	1.1330	10	0.87932	D	0	.	15.7375	0.77856	0.0:0.0:1.0:0.0	.	255;359	Q59EW1;P05181	.;CP2E1_HUMAN	Q	359;359;272;222	ENSP00000440689:R359Q;ENSP00000252945:R359Q;ENSP00000412754:R272Q;ENSP00000397299:R222Q	ENSP00000252945:R359Q	R	+	2	0	CYP2E1	135200665	1.000000	0.71417	0.406000	0.26421	0.016000	0.09150	6.871000	0.75531	2.654000	0.90174	0.603000	0.83216	CGG		0.532	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773	
FBN2	2201	hgsc.bcm.edu	37	5	127622512	127622512	+	Missense_Mutation	SNP	C	C	T	rs368802769		TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr5:127622512C>T	ENST00000508053.1	-	61	7884	c.6910G>A	c.(6910-6912)Gac>Aac	p.D2304N	FBN2_ENST00000262464.4_Missense_Mutation_p.D2304N			P35556	FBN2_HUMAN	fibrillin 2	2304	EGF-like 39; 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.D2304N(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)		GATTCACAGTCGTGTAACCCT	0.433																																					p.D2304N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6910A	5						.	C	ASN/ASP	0,4406		0,0,2203	123.0	109.0	114.0		6910	4.5	1.0	5		114	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBN2	NM_001999.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	2304/2913	127622512	1,13005	2203	4300	6503	127650411	SO:0001583	missense	2201	exon55			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.6910G>A	5.37:g.127622512C>T	ENSP00000424571:p.Asp2304Asn	Somatic		Capture	SOLID	Phase_I	127650411	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196730	0.58126	0.0	1.16E-4	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.91577	-2.87;-2.87	5.34	4.47	0.54385	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000002	T	0.82245	0.4995	N	0.25426	0.745	0.44852	D	0.997868	P	0.39624	0.681	B	0.30782	0.12	T	0.81720	-0.0804	10	0.30854	T	0.27	.	14.6791	0.69004	0.0:0.9303:0.0:0.0697	.	2304	P35556	FBN2_HUMAN	N	2304	ENSP00000262464:D2304N;ENSP00000424571:D2304N	ENSP00000262464:D2304N	D	-	1	0	FBN2	127650411	1.000000	0.71417	0.989000	0.46669	0.453000	0.32348	4.782000	0.62396	1.629000	0.50426	-0.143000	0.13931	GAC		0.433	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
PCDHA13	56136	hgsc.bcm.edu	37	5	140263245	140263245	+	Silent	SNP	G	G	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr5:140263245G>T	ENST00000289272.2	+	1	1392	c.1392G>T	c.(1390-1392)gtG>gtT	p.V464V	PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.V464V|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	464	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V464V(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGTTCGTGAAGGAAAACA	0.672																																					p.V464V	Melanoma(147;1739 1852 5500 27947 37288)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1392T	5						.						64.0	68.0	66.0					5																	140263245		2203	4300	6503	140243429	SO:0001819	synonymous_variant	56136	exon1			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1392G>T	5.37:g.140263245G>T		Somatic		Capture	SOLID	Phase_I	140243429	NM_031865	O75277	Silent	SNP	ENST00000289272.2	37	CCDS4240.1																																																																																				0.672	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
CDH18	1016	hgsc.bcm.edu	37	5	19591259	19591259	+	Silent	SNP	G	G	A			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr5:19591259G>A	ENST00000507958.1	-	9	1896	c.906C>T	c.(904-906)gaC>gaT	p.D302D	CDH18_ENST00000382275.1_Silent_p.D302D|CDH18_ENST00000274170.4_Silent_p.D302D|CDH18_ENST00000506372.1_Silent_p.D302D|CDH18_ENST00000511273.1_Silent_p.D302D|CDH18_ENST00000502796.1_Silent_p.D302D			Q13634	CAD18_HUMAN	cadherin 18, type 2	302	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D302D(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGTAGGTCATGTCAGCATTTG	0.413																																					p.D302D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C906T	5						.						165.0	139.0	148.0					5																	19591259		2203	4300	6503	19627016	SO:0001819	synonymous_variant	1016	exon7			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.906C>T	5.37:g.19591259G>A		Somatic		Capture	SOLID	Phase_I	19627016	NM_004934	A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	CCDS3889.1																																																																																				0.413	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
C9	735	hgsc.bcm.edu	37	5	39308382	39308382	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr5:39308382C>A	ENST00000263408.4	-	8	1285	c.1190G>T	c.(1189-1191)gGa>gTa	p.G397V		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	397	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)		p.G397V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AAATTCAGCTCCAACAGAGAT	0.383																																					p.G397V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1190T	5						.						131.0	127.0	128.0					5																	39308382		2203	4300	6503	39344139	SO:0001583	missense	735	exon8				CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1190G>T	5.37:g.39308382C>A	ENSP00000263408:p.Gly397Val	Somatic		Capture	SOLID	Phase_I	39344139	NM_001737		Missense_Mutation	SNP	ENST00000263408.4	37	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	C	8.322	0.824601	0.16678	.	.	ENSG00000113600	ENST00000263408	T	0.32272	1.46	4.73	-9.46	0.00597	Membrane attack complex component/perforin (MACPF) domain (3);	2.344480	0.01281	N	0.009724	T	0.23249	0.0562	L	0.38175	1.15	0.09310	N	1	B	0.27416	0.178	B	0.28385	0.089	T	0.08700	-1.0709	10	0.35671	T	0.21	-0.4345	11.0625	0.47955	0.0:0.2029:0.1102:0.6869	.	397	P02748	CO9_HUMAN	V	397	ENSP00000263408:G397V	ENSP00000263408:G397V	G	-	2	0	C9	39344139	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.431000	0.02432	-2.845000	0.00333	-0.482000	0.04802	GGA		0.383	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3		
DAB2	1601	hgsc.bcm.edu	37	5	39383090	39383090	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr5:39383090G>T	ENST00000320816.6	-	10	1438	c.971C>A	c.(970-972)tCg>tAg	p.S324*	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000509337.1_Nonsense_Mutation_p.S303*|DAB2_ENST00000545653.1_Nonsense_Mutation_p.S303*	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	324	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.S324*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CGAGCTACTCGAATTCTCTTT	0.468																																					p.S324X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C971A	5						.						102.0	106.0	105.0					5																	39383090		2203	4300	6503	39418847	SO:0001587	stop_gained	1601	exon10			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.971C>A	5.37:g.39383090G>T	ENSP00000313391:p.Ser324*	Somatic		Capture	SOLID	Phase_I	39418847	NM_001343	A6NES5|Q13598|Q9BTY0|Q9UK04	Nonsense_Mutation	SNP	ENST00000320816.6	37	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595877	0.66332	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	.	.	.	5.73	-0.829	0.10796	.	0.998658	0.08105	N	0.997037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.1136	11.3431	0.49543	0.6031:0.0:0.3969:0.0	.	.	.	.	X	324;303;303	.	ENSP00000313391:S324X	S	-	2	0	DAB2	39418847	0.972000	0.33761	0.997000	0.53966	0.662000	0.39071	0.570000	0.23653	-0.060000	0.13132	-1.004000	0.02495	TCG		0.468	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343	
MAP1B	4131	hgsc.bcm.edu	37	5	71489934	71489934	+	Missense_Mutation	SNP	C	C	T	rs181565277		TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr5:71489934C>T	ENST00000296755.7	+	5	1050	c.752C>T	c.(751-753)tCg>tTg	p.S251L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	251					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.S251L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCTCCCACATCGGGTGGATTT	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		20301	0.0		0.001	False		,,,				2504	0.0				p.S251L	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C752T	5						.						91.0	89.0	89.0					5																	71489934		2203	4300	6503	71525690	SO:0001583	missense	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.752C>T	5.37:g.71489934C>T	ENSP00000296755:p.Ser251Leu	Somatic		Capture	SOLID	Phase_I	71525690	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.4	4.531595	0.85706	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.03889	3.77;3.77;3.77	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000019	T	0.24624	0.0597	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.00019	-1.2363	10	0.87932	D	0	-8.3249	20.6721	0.99693	0.0:1.0:0.0:0.0	.	125;251	A2BDK6;P46821	.;MAP1B_HUMAN	L	251;268;125	ENSP00000296755:S251L;ENSP00000423444:S268L;ENSP00000423416:S125L	ENSP00000296755:S251L	S	+	2	0	MAP1B	71525690	1.000000	0.71417	0.944000	0.38274	0.965000	0.64279	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	TCG		0.468	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
CDHR2	54825	hgsc.bcm.edu	37	5	176011487	176011487	+	Silent	SNP	G	G	A	rs140901428	byFrequency	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01G-01A-01W-A005-10	TCGA-AA-A01G-10A-01W-A005-10	g.chr5:176011487G>A	ENST00000510636.1	+	19	2479	c.2205G>A	c.(2203-2205)tcG>tcA	p.S735S	CDHR2_ENST00000506348.1_Silent_p.S735S|CDHR2_ENST00000261944.5_Silent_p.S735S	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	735	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S735S(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCAGCCTGTCGGGGAGTGGTG	0.647																																					p.S735S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2205A	5						.	A	,	1,4405	826.1+/-416.6	0,1,2202	110.0	107.0	108.0		2205,2205	-10.2	0.0	5	dbSNP_134	108	9,8591	818.5+/-406.9	0,9,4291	no	coding-synonymous,coding-synonymous	CDHR2	NM_001171976.1,NM_017675.4	,	0,10,6493	AA,AG,GG		0.1047,0.0227,0.0769	,	735/1311,735/1311	176011487	10,12996	2203	4300	6503	175944093	SO:0001819	synonymous_variant	54825	exon19			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2205G>A	5.37:g.176011487G>A		Somatic		Capture	SOLID	Phase_I	175944093	NM_001171976	A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	CCDS34297.1																																																																																				0.647	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675	
