#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AGK	55750	hgsc.bcm.edu	37	7	141341644	141341644	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr7:141341644A>G	ENST00000355413.4	+	13	1171	c.911A>G	c.(910-912)aAa>aGa	p.K304R	AGK_ENST00000535825.1_3'UTR|AGK_ENST00000473247.1_Missense_Mutation_p.K276R	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	304					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GAGGTCTGGAAAGATGTGCAG	0.473																																																	0													76.0	59.0	65.0					7																	141341644		2203	4299	6502	SO:0001583	missense	55750			BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.911A>G	7.37:g.141341644A>G	ENSP00000347581:p.Lys304Arg	Somatic		WXS	SOLID	Phase_I	Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	A	9.989	1.230406	0.22542	.	.	ENSG00000006530	ENST00000355413;ENST00000473247	T;T	0.13901	2.55;2.55	4.7	3.49	0.39957	.	0.470695	0.26352	N	0.024870	T	0.08891	0.0220	L	0.29908	0.895	0.42249	D	0.991963	B	0.02656	0.0	B	0.04013	0.001	T	0.22730	-1.0208	10	0.19590	T	0.45	.	7.4277	0.27109	0.8851:0.0:0.1149:0.0	.	304	Q53H12	AGK_HUMAN	R	304;276	ENSP00000347581:K304R;ENSP00000420776:K276R	ENSP00000347581:K304R	K	+	2	0	AGK	140988113	0.942000	0.31987	0.722000	0.30670	0.946000	0.59487	2.690000	0.47001	0.703000	0.31848	0.374000	0.22700	AAA		0.473	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1		NM_018238	
ALPL	249	hgsc.bcm.edu	37	1	21887655	21887655	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr1:21887655G>A	ENST00000374840.3	+	4	497	c.247G>A	c.(247-249)Gag>Aag	p.E83K	ALPL_ENST00000374832.1_Missense_Mutation_p.E83K|ALPL_ENST00000539907.1_Intron|ALPL_ENST00000425315.2_Missense_Mutation_p.E83K|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000540617.1_Missense_Mutation_p.E28K	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	83					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.E83K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	CAACCCTGGGGAGGAGACCAG	0.622																																																	1	Substitution - Missense(1)	ovary(1)											86.0	60.0	69.0					1																	21887655		2202	4300	6502	SO:0001583	missense	249			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.247G>A	1.37:g.21887655G>A	ENSP00000363973:p.Glu83Lys	Somatic		WXS	SOLID	Phase_I	A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	37	CCDS217.1	.	.	.	.	.	.	.	.	.	.	G	35	5.480171	0.96307	.	.	ENSG00000162551	ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315	D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25	5.29	5.29	0.74685	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98710	0.9567	M	0.90082	3.085	0.80722	D	1	B;D	0.89917	0.318;1.0	B;D	0.91635	0.385;0.999	D	0.99785	1.1029	10	0.87932	D	0	-15.0435	17.4801	0.87670	0.0:0.0:1.0:0.0	.	31;83	B7Z1D1;P05186	.;PPBT_HUMAN	K	28;83;83;83	ENSP00000442672:E28K;ENSP00000363973:E83K;ENSP00000363965:E83K;ENSP00000394765:E83K	ENSP00000363965:E83K	E	+	1	0	ALPL	21760242	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.404000	0.97306	2.476000	0.83614	0.462000	0.41574	GAG		0.622	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1		NM_000478	
ARHGEF17	9828	hgsc.bcm.edu	37	11	73021006	73021007	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr11:73021006_73021007delCA	ENST00000263674.3	+	1	1673_1674	c.1323_1324delCA	c.(1321-1326)ggcaccfs	p.T442fs	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	442					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GACCTGGAGGCACCTCTAGGGC	0.609																																																	0																																										SO:0001589	frameshift_variant	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1323_1324delCA	11.37:g.73021006_73021007delCA	ENSP00000263674:p.Thr442fs	Somatic		WXS	SOLID	Phase_I	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Frame_Shift_Del	DEL	ENST00000263674.3	37	CCDS8221.1																																																																																				0.609	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1		NM_014786	
ATR	545	hgsc.bcm.edu;ucsc.edu	37	3	142241591	142241591	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr3:142241591A>T	ENST00000350721.4	-	23	4366	c.4245T>A	c.(4243-4245)gaT>gaA	p.D1415E	ATR_ENST00000383101.3_Missense_Mutation_p.D1351E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1415					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AGGCAGCTGAATCTTGAGCTC	0.373								Other conserved DNA damage response genes																																									0													126.0	127.0	126.0					3																	142241591		2203	4300	6503	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4245T>A	3.37:g.142241591A>T	ENSP00000343741:p.Asp1415Glu	Somatic		WXS	SOLID	Phase_I	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.436774	0.83885	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.03831	3.81;3.79	5.26	5.26	0.73747	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.20700	0.0498	M	0.85462	2.755	0.58432	D	0.999999	D	0.89917	1.0	D	0.71414	0.973	T	0.00704	-1.1602	10	0.42905	T	0.14	-22.263	9.6667	0.39988	0.922:0.0:0.078:0.0	.	1415	Q13535	ATR_HUMAN	E	1415;1351	ENSP00000343741:D1415E;ENSP00000372581:D1351E	ENSP00000343741:D1415E	D	-	3	2	ATR	143724281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.954000	0.49113	1.973000	0.57446	0.528000	0.53228	GAT		0.373	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2		NM_001184	
BAI2	576	hgsc.bcm.edu	37	1	32193184	32193184	+	Missense_Mutation	SNP	C	C	G	rs372902157		TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr1:32193184C>G	ENST00000373658.3	-	33	4936	c.4595G>C	c.(4594-4596)cGc>cCc	p.R1532P	BAI2_ENST00000257070.4_Missense_Mutation_p.R1498P|BAI2_ENST00000398542.1_Missense_Mutation_p.R1413P|BAI2_ENST00000398556.3_Missense_Mutation_p.R1447P|BAI2_ENST00000398547.1_Missense_Mutation_p.R1446P|BAI2_ENST00000527361.1_Missense_Mutation_p.R1498P|BAI2_ENST00000398538.1_Missense_Mutation_p.R1501P|BAI2_ENST00000440175.2_Missense_Mutation_p.R1122P|BAI2_ENST00000373655.2_Missense_Mutation_p.R1531P|BAI2_ENST00000465256.1_5'UTR	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1532					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CAAGCTGGGGCGCTCCCCAGG	0.612																																																	0													21.0	21.0	21.0					1																	32193184		2203	4300	6503	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4595G>C	1.37:g.32193184C>G	ENSP00000362762:p.Arg1532Pro	Somatic		WXS	SOLID	Phase_I	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965288	0.34659	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.47528	3.35;1.65;3.35;3.35;1.83;3.35;3.35;1.49;0.84	4.29	2.33	0.28932	.	0.412552	0.18103	N	0.151610	T	0.38161	0.1030	L	0.52011	1.625	0.29945	N	0.820694	B;B;B;B;B;P	0.42039	0.426;0.004;0.0;0.426;0.002;0.769	B;B;B;B;B;B	0.38985	0.287;0.008;0.003;0.287;0.003;0.268	T	0.40869	-0.9540	10	0.72032	D	0.01	.	6.2544	0.20865	0.0:0.757:0.0:0.243	.	1498;1520;1122;1531;1532;1501	O60241-4;O60241-3;B4DKC3;O60241-2;O60241;A2A3C2	.;.;.;.;BAI2_HUMAN;.	P	1447;1446;1532;1531;1413;1498;1498;1122;1501	ENSP00000381564:R1447P;ENSP00000381555:R1446P;ENSP00000362762:R1532P;ENSP00000362759:R1531P;ENSP00000381550:R1413P;ENSP00000257070:R1498P;ENSP00000435397:R1498P;ENSP00000391071:R1122P;ENSP00000381548:R1501P	ENSP00000257070:R1498P	R	-	2	0	BAI2	31965771	0.012000	0.17670	0.971000	0.41717	0.933000	0.57130	0.358000	0.20216	0.516000	0.28340	0.561000	0.74099	CGC		0.612	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1		NM_001703	
BIRC6	57448	hgsc.bcm.edu	37	2	32692693	32692693	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr2:32692693T>G	ENST00000421745.2	+	27	5591	c.5457T>G	c.(5455-5457)atT>atG	p.I1819M		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1819					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAATTGACATTTGGACATTAG	0.433																																					Pancreas(94;175 1509 16028 18060 45422)												0													153.0	145.0	147.0					2																	32692693		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.5457T>G	2.37:g.32692693T>G	ENSP00000393596:p.Ile1819Met	Somatic		WXS	SOLID	Phase_I	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	T	15.92	2.976224	0.53720	.	.	ENSG00000115760	ENST00000421745	T	0.79749	-1.3	5.61	2.84	0.33178	.	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	M	0.71206	2.165	0.42075	D	0.991225	P	0.44578	0.838	B	0.42422	0.387	T	0.76572	-0.2910	10	0.87932	D	0	.	5.6506	0.17614	0.1397:0.1813:0.0:0.679	.	1819	Q9NR09	BIRC6_HUMAN	M	1819	ENSP00000393596:I1819M	ENSP00000393596:I1819M	I	+	3	3	BIRC6	32546197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.333000	0.33816	0.939000	0.37446	0.456000	0.33151	ATT		0.433	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252	
TEX30	93081	hgsc.bcm.edu	37	13	103418816	103418816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr13:103418816C>A	ENST00000376032.4	-	6	808	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	TEX30_ENST00000376019.1_Nonsense_Mutation_p.E166*|TEX30_ENST00000376022.1_3'UTR|TEX30_ENST00000376029.3_3'UTR|TEX30_ENST00000376021.4_Nonsense_Mutation_p.E166*|TEX30_ENST00000487260.1_5'Flank|TEX30_ENST00000376027.1_3'UTR	NM_138779.3	NP_620134.3	Q5JUR7	TEX30_HUMAN	testis expressed 30	207										lung(1)|urinary_tract(1)	2						GTATTTATTTCTTTGAAAACA	0.363																																																	0													116.0	109.0	111.0					13																	103418816		2203	4300	6503	SO:0001587	stop_gained	0			AF070559	CCDS9503.2, CCDS66577.1, CCDS66578.1	13q33.1	2012-02-09	2012-02-09	2012-02-09	ENSG00000151287	ENSG00000151287			25188	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 27"""	C13orf27			Standard	XM_005254097		Approved		uc001vpo.3	Q5JUR7	OTTHUMG00000017306	ENST00000376032.4:c.619G>T	13.37:g.103418816C>A	ENSP00000365200:p.Glu207*	Somatic		WXS	SOLID	Phase_I	Q5JUR8|Q96KZ8	Nonsense_Mutation	SNP	ENST00000376032.4	37	CCDS9503.2	.	.	.	.	.	.	.	.	.	.	C	37	6.130195	0.97310	.	.	ENSG00000151287	ENST00000376019;ENST00000376021;ENST00000376032	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-18.2035	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	166;166;207	.	ENSP00000365187:E166X	E	-	1	0	C13orf27	102216817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.588000	0.67517	2.941000	0.99782	0.655000	0.94253	GAA		0.363	TEX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045691.4		NM_138779	
CACNA1I	8911	hgsc.bcm.edu;ucsc.edu	37	22	40078528	40078528	+	Missense_Mutation	SNP	C	C	T	rs185177048	byFrequency	TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr22:40078528C>T	ENST00000402142.3	+	35	5692	c.5692C>T	c.(5692-5694)Cgt>Tgt	p.R1898C	CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1863C|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1863C|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1863C|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R1904C|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1898C	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1898					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TGAGCCCATGCGTGTGGGAGA	0.592													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19690	0.0		0.001	False		,,,				2504	0.0																0													104.0	112.0	109.0					22																	40078528		2102	4205	6307	SO:0001583	missense	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5692C>T	22.37:g.40078528C>T	ENSP00000385019:p.Arg1898Cys	Somatic		WXS	SOLID	Phase_I	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	CCDS46710.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	5.598	0.295079	0.10622	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96913	-4.15;-4.11;-4.15;-4.11;-4.17;-4.08	4.94	1.44	0.22558	.	4.340870	0.00465	N	0.000104	D	0.91036	0.7180	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.81758	-0.0786	10	0.56958	D	0.05	.	2.6327	0.04949	0.1378:0.4765:0.2105:0.1752	.	1863;1898;1863;1898	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	C	1898;1863;1898;1863;1904;1863	ENSP00000385019:R1898C;ENSP00000384093:R1863C;ENSP00000383887:R1898C;ENSP00000385680:R1863C;ENSP00000337829:R1904C;ENSP00000383028:R1863C	ENSP00000337829:R1904C	R	+	1	0	CACNA1I	38408474	0.002000	0.14202	0.003000	0.11579	0.185000	0.23345	0.655000	0.24933	0.152000	0.19188	-1.814000	0.00607	CGT		0.592	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1		NM_001003406	
DCHS2	54798	hgsc.bcm.edu	37	4	155156936	155156936	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr4:155156936C>A	ENST00000357232.4	-	25	7502	c.7503G>T	c.(7501-7503)atG>atT	p.M2501I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2501	Cadherin 22. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CGATTATTTTCATTTCCAAGG	0.368																																																	0													94.0	100.0	98.0					4																	155156936		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7503G>T	4.37:g.155156936C>A	ENSP00000349768:p.Met2501Ile	Somatic		WXS	SOLID	Phase_I	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521482	0.27211	.	.	ENSG00000197410	ENST00000357232	T	0.58940	0.3	5.82	4.07	0.47477	Cadherin (3);Cadherin-like (1);	0.402700	0.26549	N	0.023745	T	0.37320	0.0999	N	0.17901	0.54	0.80722	D	1	B	0.14805	0.011	B	0.08055	0.003	T	0.22977	-1.0201	10	0.44086	T	0.13	.	5.4173	0.16380	0.2592:0.5471:0.1254:0.0682	.	2501	Q6V1P9	PCD23_HUMAN	I	2501	ENSP00000349768:M2501I	ENSP00000349768:M2501I	M	-	3	0	DCHS2	155376386	0.003000	0.15002	0.983000	0.44433	0.838000	0.47535	0.193000	0.17116	1.441000	0.47550	0.467000	0.42956	ATG		0.368	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2		NM_001142552	
DCT	1638	hgsc.bcm.edu	37	13	95121259	95121259	+	Silent	SNP	G	G	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr13:95121259G>A	ENST00000377028.5	-	2	749	c.336C>T	c.(334-336)ggC>ggT	p.G112G	DCT_ENST00000490854.1_5'Flank|DCT_ENST00000446125.1_Silent_p.G112G	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	112					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GACCGGTCCAGCCAAACTTGC	0.483																																																	0													121.0	129.0	127.0					13																	95121259		2203	4300	6503	SO:0001819	synonymous_variant	1638			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.336C>T	13.37:g.95121259G>A		Somatic		WXS	SOLID	Phase_I	Q09GT4	Silent	SNP	ENST00000377028.5	37	CCDS9470.1																																																																																				0.483	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			
DEPDC1B	55789	hgsc.bcm.edu	37	5	59895075	59895075	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr5:59895075C>A	ENST00000265036.5	-	10	1322	c.1255G>T	c.(1255-1257)Gga>Tga	p.G419*	DEPDC1B_ENST00000545085.1_Intron|DEPDC1B_ENST00000453022.2_Intron	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	419					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				ATATCAGCTCCTGGGTATTTT	0.333																																																	0													57.0	60.0	59.0					5																	59895075		2203	4300	6503	SO:0001587	stop_gained	55789			AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.1255G>T	5.37:g.59895075C>A	ENSP00000265036:p.Gly419*	Somatic		WXS	SOLID	Phase_I	A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Nonsense_Mutation	SNP	ENST00000265036.5	37	CCDS3977.1	.	.	.	.	.	.	.	.	.	.	C	37	6.015276	0.97205	.	.	ENSG00000035499	ENST00000265036	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.4127	19.4557	0.94886	0.0:1.0:0.0:0.0	.	.	.	.	X	419	.	.	G	-	1	0	DEPDC1B	59930832	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.303000	0.72794	2.601000	0.87937	0.591000	0.81541	GGA		0.333	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1		NM_018369	
EIF4E1B	253314	hgsc.bcm.edu;ucsc.edu	37	5	176070710	176070710	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr5:176070710G>A	ENST00000318682.6	+	5	855	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	EIF4E1B_ENST00000504597.1_Missense_Mutation_p.V91M	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	91					regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTCACCAAGGTGGACACTGT	0.642																																																	0													30.0	34.0	33.0					5																	176070710		2051	4180	6231	SO:0001583	missense	253314				CCDS47345.1	5q35.2	2008-06-12			ENSG00000175766	ENSG00000175766			33179	protein-coding gene	gene with protein product						16191198	Standard	NM_001099408		Approved	FLJ36951	uc010jkf.1	A6NMX2	OTTHUMG00000163227	ENST00000318682.6:c.271G>A	5.37:g.176070710G>A	ENSP00000323714:p.Val91Met	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000318682.6	37	CCDS47345.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765338	0.69878	.	.	ENSG00000175766	ENST00000318682;ENST00000504597	T;T	0.51325	0.71;0.71	5.33	-0.0753	0.13727	Translation Initiation factor eIF- 4e-like  domain (2);	0.199988	0.42682	D	0.000665	T	0.47893	0.1470	L	0.43701	1.375	0.23496	N	0.997555	P	0.45126	0.851	P	0.50860	0.652	T	0.49072	-0.8977	9	.	.	.	.	14.3614	0.66773	0.0:0.0:0.4944:0.5056	.	91	A6NMX2	I4E1B_HUMAN	M	91	ENSP00000323714:V91M;ENSP00000427633:V91M	.	V	+	1	0	EIF4E1B	176003316	1.000000	0.71417	0.917000	0.36280	0.731000	0.41821	1.304000	0.33482	-0.237000	0.09739	-0.500000	0.04577	GTG		0.642	EIF4E1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372187.1		NM_001099408	
FZD4	8322	hgsc.bcm.edu	37	11	86662332	86662332	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr11:86662332A>G	ENST00000531380.1	-	2	1771	c.1466T>C	c.(1465-1467)aTc>aCc	p.I489T	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	489					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCTGAAGTGATGCCCACCAA	0.408																																																	0													102.0	100.0	100.0					11																	86662332		2201	4299	6500	SO:0001583	missense	8322			AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.1466T>C	11.37:g.86662332A>G	ENSP00000434034:p.Ile489Thr	Somatic		WXS	SOLID	Phase_I	A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	37	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615949	0.66672	.	.	ENSG00000174804	ENST00000531380	D	0.86865	-2.18	6.06	6.06	0.98353	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.95092	0.8410	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.95998	0.8991	9	.	.	.	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	489	Q9ULV1	FZD4_HUMAN	T	489	ENSP00000434034:I489T	.	I	-	2	0	FZD4	86339980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.265000	0.95647	2.324000	0.78689	0.533000	0.62120	ATC		0.408	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2		NM_012193	
GGA3	23163	hgsc.bcm.edu	37	17	73235514	73235514	+	Silent	SNP	C	C	G	rs535140507		TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr17:73235514C>G	ENST00000245541.6	-	14	1938	c.1722G>C	c.(1720-1722)ccG>ccC	p.P574P	GGA3_ENST00000582486.1_Silent_p.P502P|GGA3_ENST00000578348.1_Silent_p.P452P|GGA3_ENST00000582717.1_Silent_p.P502P|GGA3_ENST00000351904.7_Silent_p.P541P|GGA3_ENST00000538886.1_Silent_p.P452P	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	574	Unstructured hinge.		P -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CAGGCCCCTTCGGGGGGCTGC	0.682											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													21.0	24.0	23.0					17																	73235514		2203	4299	6502	SO:0001819	synonymous_variant	23163			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.1722G>C	17.37:g.73235514C>G		Somatic	1143	WXS	SOLID	Phase_I	B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Silent	SNP	ENST00000245541.6	37	CCDS11717.1																																																																																				0.682	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1		NM_138619	
GRIN2B	2904	hgsc.bcm.edu	37	12	13716545	13716545	+	Silent	SNP	C	C	G	rs149089581		TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr12:13716545C>G	ENST00000609686.1	-	13	3836	c.3627G>C	c.(3625-3627)cgG>cgC	p.R1209R		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1209					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R1209R(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGCCCCCGGACCGGTCCTCCC	0.642																																																	1	Substitution - coding silent(1)	skin(1)											78.0	87.0	84.0					12																	13716545		2203	4300	6503	SO:0001819	synonymous_variant	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3627G>C	12.37:g.13716545C>G		Somatic		WXS	SOLID	Phase_I	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	CCDS8662.1																																																																																				0.642	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			
HOXB1	3211	hgsc.bcm.edu	37	17	46608181	46608181	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr17:46608181G>C	ENST00000239174.6	-	1	178	c.86C>G	c.(85-87)aCc>aGc	p.T29S	HOXB1_ENST00000577092.1_Missense_Mutation_p.T29S	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	29					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGAAAGGAGGTTGGGGCGCT	0.622																																																	0													60.0	69.0	66.0					17																	46608181		2203	4299	6502	SO:0001583	missense	3211				CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.86C>G	17.37:g.46608181G>C	ENSP00000355140:p.Thr29Ser	Somatic		WXS	SOLID	Phase_I	Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658737	0.47467	.	.	ENSG00000120094	ENST00000239174	D	0.89196	-2.48	5.17	5.17	0.71159	.	0.000000	0.46758	D	0.000264	D	0.84588	0.5505	L	0.42744	1.35	0.33102	D	0.539424	B	0.19445	0.036	B	0.12156	0.007	T	0.80781	-0.1229	10	0.12103	T	0.63	.	18.4599	0.90735	0.0:0.0:1.0:0.0	.	29	P14653	HXB1_HUMAN	S	29	ENSP00000355140:T29S	ENSP00000355140:T29S	T	-	2	0	HOXB1	43963180	0.811000	0.29063	0.998000	0.56505	0.782000	0.44232	3.143000	0.50608	2.689000	0.91719	0.551000	0.68910	ACC		0.622	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			
ITGAM	3684	hgsc.bcm.edu;ucsc.edu	37	16	31336054	31336054	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr16:31336054A>G	ENST00000287497.8	+	18	2315	c.2240A>G	c.(2239-2241)aAc>aGc	p.N747S	ITGAM_ENST00000544665.3_Missense_Mutation_p.N748S			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	747					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCTTTCGGGAACCTCCGGCCA	0.577																																																	0													60.0	60.0	60.0					16																	31336054		1968	4151	6119	SO:0001583	missense	3684			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2240A>G	16.37:g.31336054A>G	ENSP00000287497:p.Asn747Ser	Somatic		WXS	SOLID	Phase_I	Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	A	7.033	0.561020	0.13498	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.46451	0.87;0.87	4.91	4.91	0.64330	Integrin alpha-2 (1);	.	.	.	.	T	0.39860	0.1094	L	0.58969	1.84	0.09310	N	1	B;B;B	0.30851	0.297;0.029;0.029	B;B;B	0.33042	0.157;0.083;0.083	T	0.39881	-0.9592	9	0.56958	D	0.05	.	7.2126	0.25941	0.9027:0.0:0.0973:0.0	.	153;747;747	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	S	748;747	ENSP00000441691:N748S;ENSP00000287497:N747S	ENSP00000287497:N747S	N	+	2	0	ITGAM	31243555	0.351000	0.24887	0.065000	0.19835	0.045000	0.14185	1.657000	0.37366	2.056000	0.61249	0.460000	0.39030	AAC		0.577	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1		NM_000632	
JAKMIP1	152789	hgsc.bcm.edu	37	4	6086641	6086641	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr4:6086641C>T	ENST00000282924.5	-	5	1371	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E131K|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E296K|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.E296K|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E131K	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	296	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)	p.E296*(2)|p.E296K(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAATTCAGTTCAGCAATTTTT	0.393																																																	3	Substitution - Nonsense(2)|Substitution - Missense(1)	lung(2)|ovary(1)											233.0	226.0	228.0					4																	6086641		2203	4300	6503	SO:0001583	missense	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.886G>A	4.37:g.6086641C>T	ENSP00000282924:p.Glu296Lys	Somatic		WXS	SOLID	Phase_I	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	32	5.136085	0.94517	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.45276	1.37;0.96;1.37;1.37;0.9	4.79	4.79	0.61399	.	0.216872	0.32640	N	0.005823	T	0.59555	0.2202	L	0.54323	1.7	0.51482	D	0.999929	D;B;D;D;B	0.67145	0.996;0.008;0.996;0.996;0.035	D;B;D;D;B	0.76071	0.981;0.009;0.987;0.987;0.015	T	0.63323	-0.6663	10	0.87932	D	0	.	15.0225	0.71640	0.0:1.0:0.0:0.0	.	131;296;131;296;296	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	K	296;131;296;296;188;296;296;131	ENSP00000386711:E296K;ENSP00000387042:E131K;ENSP00000282924:E296K;ENSP00000386925:E296K;ENSP00000386745:E131K	ENSP00000282924:E296K	E	-	1	0	JAKMIP1	6137542	1.000000	0.71417	0.988000	0.46212	0.973000	0.67179	7.396000	0.79891	2.203000	0.70933	0.591000	0.81541	GAA		0.393	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2		NM_144720	
LIN54	132660	hgsc.bcm.edu;ucsc.edu	37	4	83849392	83849392	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr4:83849392C>G	ENST00000340417.3	-	13	2490	c.2113G>C	c.(2113-2115)Gca>Cca	p.A705P	LIN54_ENST00000510557.1_Missense_Mutation_p.A484P|LIN54_ENST00000505397.1_Missense_Mutation_p.A705P|LIN54_ENST00000506560.1_Missense_Mutation_p.A616P|LIN54_ENST00000395283.2_Missense_Mutation_p.A616P|LIN54_ENST00000505905.1_5'Flank|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000442461.2_Missense_Mutation_p.A484P|LIN54_ENST00000446851.2_Missense_Mutation_p.A484P	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	705					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				GCCTGCTCTGCCTGGGCAAGG	0.443																																																	0													137.0	113.0	121.0					4																	83849392		2203	4300	6503	SO:0001583	missense	132660			BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.2113G>C	4.37:g.83849392C>G	ENSP00000341947:p.Ala705Pro	Somatic		WXS	SOLID	Phase_I	Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	C	34	5.350068	0.95830	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.83027	0.5165	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.996	T	0.83041	-0.0157	9	0.66056	D	0.02	-22.6082	20.452	0.99131	0.0:1.0:0.0:0.0	.	616;577;705	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	P	705;616;484;484;484;616;705	.	ENSP00000341947:A705P	A	-	1	0	LIN54	84068416	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.734000	0.84928	2.838000	0.97847	0.591000	0.81541	GCA		0.443	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2		NM_194282	
LRRC27	80313	hgsc.bcm.edu	37	10	134161545	134161545	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr10:134161545T>G	ENST00000368614.3	+	6	716	c.611T>G	c.(610-612)tTg>tGg	p.L204W	LRRC27_ENST00000344079.5_Missense_Mutation_p.L204W|LRRC27_ENST00000368612.1_Missense_Mutation_p.L142W|LRRC27_ENST00000392638.2_Missense_Mutation_p.L204W|LRRC27_ENST00000368610.3_Missense_Mutation_p.L142W|LRRC27_ENST00000432555.2_Missense_Mutation_p.L77W|LRRC27_ENST00000356571.4_3'UTR|LRRC27_ENST00000368615.3_Missense_Mutation_p.L204W|LRRC27_ENST00000368613.4_Missense_Mutation_p.L204W	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	204										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GGACTGGAGTTGTCTGGAGAC	0.567																																																	0													90.0	93.0	92.0					10																	134161545		2203	4300	6503	SO:0001583	missense	80313			AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.611T>G	10.37:g.134161545T>G	ENSP00000357603:p.Leu204Trp	Somatic		WXS	SOLID	Phase_I	A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	CCDS31316.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.71|15.71	2.915017|2.915017	0.52546|0.52546	.|.	.|.	ENSG00000148814|ENSG00000148814	ENST00000450442|ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555	.|T;T;T;T;T;T;T;T	.|0.52754	.|2.35;2.26;2.26;2.27;2.27;4.03;4.03;0.65	3.75|3.75	3.75|3.75	0.43078|0.43078	.|.	.|0.000000	.|0.32190	.|N	.|0.006450	T|T	0.60025|0.60025	0.2237|0.2237	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.991;0.999;0.994;0.986;0.996	T|T	0.49532|0.49532	-0.8930|-0.8930	5|10	.|0.66056	.|D	.|0.02	-11.4702|-11.4702	9.4239|9.4239	0.38567|0.38567	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|204;77;142;204;204	.|Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9;Q9C0I9-3	.|.;.;.;LRC27_HUMAN;.	G|W	156|204;204;204;204;204;142;142;77	.|ENSP00000357604:L204W;ENSP00000376413:L204W;ENSP00000342641:L204W;ENSP00000357603:L204W;ENSP00000357602:L204W;ENSP00000357601:L142W;ENSP00000357599:L142W;ENSP00000407949:L77W	.|ENSP00000342641:L204W	C|L	+|+	1|2	0|0	LRRC27|LRRC27	134011535|134011535	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.001000|0.001000	0.01503|0.01503	-0.136000|-0.136000	0.10405|0.10405	1.659000|1.659000	0.50751|0.50751	0.533000|0.533000	0.62120|0.62120	TGT|TTG		0.567	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2		XM_290462	
MME	4311	hgsc.bcm.edu	37	3	154898167	154898167	+	Silent	SNP	G	G	A	rs201945617		TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr3:154898167G>A	ENST00000460393.1	+	23	2292	c.2172G>A	c.(2170-2172)caG>caA	p.Q724Q	MME_ENST00000492661.1_Silent_p.Q724Q|MME_ENST00000493237.1_Silent_p.Q724Q|MME_ENST00000462745.1_Silent_p.Q724Q|MME_ENST00000360490.2_Silent_p.Q724Q|MME-AS1_ENST00000484721.1_RNA	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	724					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GGACTTTGCAGAACTCTGCAG	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		16973	0.001		0.0	False		,,,				2504	0.0																0													111.0	120.0	117.0					3																	154898167		2203	4300	6503	SO:0001819	synonymous_variant	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.2172G>A	3.37:g.154898167G>A		Somatic		WXS	SOLID	Phase_I	A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	37	CCDS3172.1																																																																																				0.433	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1		NM_000902	
MSH3	4437	hgsc.bcm.edu;ucsc.edu	37	5	80074600	80074600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr5:80074600C>T	ENST00000265081.6	+	17	2460	c.2380C>T	c.(2380-2382)Cag>Tag	p.Q794*		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	794					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ACATCTGAATCAGCTCCGGGA	0.393								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0													84.0	85.0	85.0					5																	80074600		2203	4300	6503	SO:0001587	stop_gained	4437			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2380C>T	5.37:g.80074600C>T	ENSP00000265081:p.Gln794*	Somatic		WXS	SOLID	Phase_I	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Nonsense_Mutation	SNP	ENST00000265081.6	37	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	41	8.717188	0.98927	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.8214	19.8454	0.96706	0.0:1.0:0.0:0.0	.	.	.	.	X	794;785	.	.	Q	+	1	0	MSH3	80110356	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.059000	0.76684	2.850000	0.98022	0.650000	0.86243	CAG		0.393	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1		NM_002439	
NBPF14	25832	hgsc.bcm.edu	37	1	148021592	148021592	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr1:148021592C>T	ENST00000369219.1	-	5	618	c.602G>A	c.(601-603)gGa>gAa	p.G201E				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	201	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGACACTGGTCCTTTTTCTTC	0.363																																																	0													98.0	133.0	123.0					1																	148021592		1767	4054	5821	SO:0001583	missense	25832			AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.602G>A	1.37:g.148021592C>T	ENSP00000358221:p.Gly201Glu	Somatic		WXS	SOLID	Phase_I	Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	8.250|8.250	0.808847|0.808847	0.16467|0.16467	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000310701;ENST00000444640;ENST00000431121;ENST00000436356;ENST00000448574;ENST00000458135;ENST00000392972;ENST00000426874|ENST00000369219	.|T	.|0.05382	.|3.45	.|.	.|.	.|.	.|DUF1220 (2);	.|.	.|.	.|.	.|.	T|T	0.03915|0.03915	0.0110|0.0110	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	.|D;P	.|0.56035	.|0.974;0.87	.|P;P	.|0.60789	.|0.879;0.681	T|T	0.30736|0.30736	-0.9968|-0.9968	3|7	.|0.33141	.|T	.|0.24	.|.	.|.	.|.	.|.	.|.	.|201;466	.|Q5TI25;Q5VTG7	.|NBPFE_HUMAN;.	N|E	207;212;212;212;212;212;212;212|201	.|ENSP00000358221:G201E	.|ENSP00000358221:G201E	D|G	-|-	1|2	0|0	NBPF14|NBPF14	146488216|146488216	0.998000|0.998000	0.40836|0.40836	0.001000|0.001000	0.08648|0.08648	0.000000|0.000000	0.00434|0.00434	0.711000|0.711000	0.25764|0.25764	-0.520000|-0.520000	0.06435|0.06435	-0.633000|-0.633000	0.03987|0.03987	GAC|GGA		0.363	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_015383	
NRG1	3084	hgsc.bcm.edu;ucsc.edu	37	8	32505779	32505779	+	Intron	SNP	T	T	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr8:32505779T>A	ENST00000405005.3	+	5	502				NRG1_ENST00000341377.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000520502.2_Missense_Mutation_p.F181L|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000523079.1_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TTTTTGCCTTTTCTTTCTTGC	0.502																																																	0													221.0	177.0	192.0					8																	32505779		2203	4300	6503	SO:0001627	intron_variant	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.502+31376T>A	8.37:g.32505779T>A		Somatic		WXS	SOLID	Phase_I	A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.877510	0.51801	.	.	ENSG00000157168	ENST00000520502;ENST00000523041	.	.	.	5.77	0.726	0.18248	.	.	.	.	.	T	0.26882	0.0658	N	0.17082	0.46	0.80722	D	1	P;P	0.43287	0.802;0.612	B;B	0.40677	0.337;0.256	T	0.06006	-1.0851	8	0.08837	T	0.75	.	10.455	0.44546	0.0:0.3351:0.0:0.6649	.	181;181	Q53F54;Q02297-10	.;.	L	181;141	.	ENSP00000433289:F181L	F	+	3	2	NRG1	32625321	0.966000	0.33281	0.999000	0.59377	0.975000	0.68041	-0.089000	0.11180	0.183000	0.20059	0.533000	0.62120	TTT		0.502	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			
OR13A1	79290	hgsc.bcm.edu	37	10	45799761	45799761	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr10:45799761T>C	ENST00000553795.1	-	4	418	c.110A>G	c.(109-111)gAg>gGg	p.E37G	OR13A1_ENST00000374401.2_Missense_Mutation_p.E37G|OR13A1_ENST00000536058.1_Missense_Mutation_p.E37G	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TTCTGGGTGCTCCGAAAAGCC	0.527																																																	0													68.0	80.0	76.0					10																	45799761		2203	4300	6503	SO:0001583	missense	79290			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.110A>G	10.37:g.45799761T>C	ENSP00000451950:p.Glu37Gly	Somatic		WXS	SOLID	Phase_I	Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	t	12.20	1.866833	0.32977	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00000	10.27;10.27;10.27	5.09	5.09	0.68999	.	0.000000	0.44688	D	0.000433	T	0.00039	0.0001	L	0.35854	1.095	0.09310	N	1	B	0.15473	0.013	B	0.15484	0.013	T	0.01413	-1.1361	10	0.44086	T	0.13	-32.1141	7.8708	0.29565	0.0:0.0935:0.0:0.9065	.	37	Q8NGR1	O13A1_HUMAN	G	37	ENSP00000451950:E37G;ENSP00000438657:E37G;ENSP00000363522:E37G	ENSP00000311379:E37G	E	-	2	0	OR13A1	45119767	0.000000	0.05858	0.978000	0.43139	0.828000	0.46876	0.346000	0.19997	2.042000	0.60477	0.491000	0.48974	GAG		0.527	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2		NM_001004297	
PAPOLB	56903	hgsc.bcm.edu	37	7	4901302	4901302	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr7:4901302A>G	ENST00000404991.1	-	1	323	c.137T>C	c.(136-138)cTc>cCc	p.L46P	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	46					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GAAGGGCCTGAGGGTTTCTAT	0.542																																																	0													21.0	21.0	21.0					7																	4901302		1925	4147	6072	SO:0001583	missense	56903			AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.137T>C	7.37:g.4901302A>G	ENSP00000384700:p.Leu46Pro	Somatic		WXS	SOLID	Phase_I	Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37		.	.	.	.	.	.	.	.	.	.	A	10.62	1.401786	0.25291	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.13	2.97	0.34412	.	.	.	.	.	D	0.85410	0.5690	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86034	0.1515	8	0.87932	D	0	.	8.2475	0.31698	0.9026:0.0:0.0974:0.0	.	47	A4D1Z6	.	P	46	.	ENSP00000384700:L46P	L	-	2	0	PAPOLB	4867828	1.000000	0.71417	0.893000	0.35052	0.067000	0.16453	8.205000	0.89743	0.922000	0.37019	0.533000	0.62120	CTC		0.542	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1		NM_020144	
PLEKHA7	144100	hgsc.bcm.edu;ucsc.edu	37	11	16816509	16816509	+	Silent	SNP	C	C	T			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr11:16816509C>T	ENST00000355661.3	-	18	2476	c.2466G>A	c.(2464-2466)ctG>ctA	p.L822L	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Silent_p.L822L|PLEKHA7_ENST00000531066.1_Silent_p.L822L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	822					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TATTTGCACTCAGGCCTGCAG	0.463																																																	0													212.0	200.0	204.0					11																	16816509		2200	4294	6494	SO:0001819	synonymous_variant	144100			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2466G>A	11.37:g.16816509C>T		Somatic		WXS	SOLID	Phase_I	B4DK33|B4DWC3|Q86VZ7	Silent	SNP	ENST00000355661.3	37	CCDS31434.1																																																																																				0.463	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2		NM_175058	
RAB10	10890	hgsc.bcm.edu;ucsc.edu	37	2	26332677	26332677	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr2:26332677T>A	ENST00000264710.4	+	3	728	c.229T>A	c.(229-231)Tcc>Acc	p.S77T	RAB10_ENST00000462003.1_3'UTR	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	77					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCACAACCTCCTACTACAG	0.373																																																	0													103.0	95.0	98.0					2																	26332677		2203	4300	6503	SO:0001583	missense	10890			AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"""RAB, member RAS oncogene"""	9759	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein"""	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.229T>A	2.37:g.26332677T>A	ENSP00000264710:p.Ser77Thr	Somatic		WXS	SOLID	Phase_I	D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Missense_Mutation	SNP	ENST00000264710.4	37	CCDS1720.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801644	0.90538	.	.	ENSG00000084733	ENST00000264710	T	0.80214	-1.35	5.51	5.51	0.81932	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.76758	0.4032	N	0.20483	0.58	0.80722	D	1	P	0.36974	0.576	P	0.46172	0.506	T	0.80051	-0.1544	10	0.87932	D	0	.	14.422	0.67190	0.0:0.0:0.0:1.0	.	77	P61026	RAB10_HUMAN	T	77	ENSP00000264710:S77T	ENSP00000264710:S77T	S	+	1	0	RAB10	26186181	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.041000	0.64196	2.091000	0.63221	0.477000	0.44152	TCC		0.373	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211610.1		NM_016131	
RALGAPB	57148	hgsc.bcm.edu;ucsc.edu	37	20	37150282	37150282	+	Silent	SNP	G	G	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr20:37150282G>A	ENST00000262879.6	+	10	1844	c.1560G>A	c.(1558-1560)ctG>ctA	p.L520L	RALGAPB_ENST00000397040.1_Silent_p.L520L|RALGAPB_ENST00000397042.3_Silent_p.L520L|RALGAPB_ENST00000537204.1_Intron|RALGAPB_ENST00000397038.1_Silent_p.L298L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	520					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTGGGACACTGTGTAGGATTT	0.383																																																	0													162.0	149.0	153.0					20																	37150282		2203	4300	6503	SO:0001819	synonymous_variant	57148			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1560G>A	20.37:g.37150282G>A		Somatic		WXS	SOLID	Phase_I	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Silent	SNP	ENST00000262879.6	37	CCDS13305.1																																																																																				0.383	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1		NM_020336	
RARB	5915	hgsc.bcm.edu;ucsc.edu	37	3	25470335	25470335	+	Intron	SNP	G	G	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr3:25470335G>A	ENST00000404969.1	+	2	178				RARB_ENST00000437042.2_Intron|RARB_ENST00000330688.4_Missense_Mutation_p.S38N|RARB_ENST00000462272.1_3'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta						embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GCATGCTTCAGTGGATTGACC	0.453																																																	0													151.0	128.0	136.0					3																	25470335		2203	4300	6503	SO:0001627	intron_variant	5915			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.179-32349G>A	3.37:g.25470335G>A		Somatic		WXS	SOLID	Phase_I	P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37		.	.	.	.	.	.	.	.	.	.	G	9.538	1.112646	0.20795	.	.	ENSG00000077092	ENST00000330688	D	0.92647	-3.08	6.03	5.15	0.70609	.	0.466390	0.25065	N	0.033407	D	0.83714	0.5314	N	0.16478	0.41	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.77515	-0.2559	10	0.21540	T	0.41	.	10.6466	0.45623	0.068:0.1333:0.7987:0.0	.	38	F1D8S6	.	N	38	ENSP00000332296:S38N	ENSP00000332296:S38N	S	+	2	0	RARB	25445339	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.781000	0.62389	1.541000	0.49316	-0.175000	0.13238	AGT		0.453	RARB-201	KNOWN	basic	protein_coding	protein_coding			NM_000965, NM_016152	
RUNX1	861	hgsc.bcm.edu	37	21	36259170	36259170	+	Silent	SNP	G	G	T			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr21:36259170G>T	ENST00000344691.4	-	1	1817	c.240C>A	c.(238-240)cgC>cgA	p.R80R	RUNX1_ENST00000358356.5_Silent_p.R80R|RUNX1_ENST00000399240.1_Silent_p.R80R|RUNX1_ENST00000300305.3_Silent_p.R107R|RUNX1_ENST00000325074.5_Silent_p.R95R|RUNX1_ENST00000486278.2_Silent_p.R83R|RUNX1_ENST00000437180.1_Silent_p.R107R	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	80	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.V90_K117del(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TCTTGTTGCAGCGCCAGTGCG	0.701			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																			Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											59.0	57.0	58.0					21																	36259170		2203	4300	6503	SO:0001819	synonymous_variant	861			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.240C>A	21.37:g.36259170G>T		Somatic		WXS	SOLID	Phase_I	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Silent	SNP	ENST00000344691.4	37	CCDS42922.1																																																																																				0.701	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			
SEH1L	81929	hgsc.bcm.edu	37	18	12963339	12963339	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr18:12963339A>C	ENST00000262124.11	+	4	617	c.490A>C	c.(490-492)Agc>Cgc	p.S164R	SEH1L_ENST00000399892.2_Missense_Mutation_p.S164R	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	164					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						ATGTAAGCTAAGCTGTAGTTG	0.368																																																	0													196.0	180.0	185.0					18																	12963339		2203	4300	6503	SO:0001583	missense	81929			BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.490A>C	18.37:g.12963339A>C	ENSP00000262124:p.Ser164Arg	Somatic		WXS	SOLID	Phase_I	A8K5B1|Q8NFU6|Q96MH3|Q9C069	Missense_Mutation	SNP	ENST00000262124.11	37	CCDS45832.1	.	.	.	.	.	.	.	.	.	.	A	18.08	3.543841	0.65198	.	.	ENSG00000085415	ENST00000399892;ENST00000262124	T;T	0.66460	-0.21;-0.21	5.12	3.93	0.45458	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.116151	0.85682	D	0.000000	T	0.57666	0.2069	L	0.43923	1.385	0.42751	D	0.993777	B;B	0.23249	0.025;0.082	B;B	0.24974	0.057;0.036	T	0.53351	-0.8451	10	0.41790	T	0.15	-5.5431	10.8521	0.46775	0.8542:0.0:0.0:0.1458	.	164;164	Q96EE3;Q96EE3-1	SEH1_HUMAN;.	R	164	ENSP00000382779:S164R;ENSP00000262124:S164R	ENSP00000262124:S164R	S	+	1	0	SEH1L	12953339	1.000000	0.71417	0.947000	0.38551	0.980000	0.70556	5.072000	0.64389	0.757000	0.33036	0.460000	0.39030	AGC		0.368	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1		NM_031216	
SLC26A11	284129	hgsc.bcm.edu	37	17	78221983	78221983	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr17:78221983A>G	ENST00000361193.3	+	14	1629	c.1349A>G	c.(1348-1350)cAg>cGg	p.Q450R	SLC26A11_ENST00000572725.1_Missense_Mutation_p.Q450R|SLC26A11_ENST00000546047.2_Missense_Mutation_p.Q450R|SLC26A11_ENST00000411502.3_Missense_Mutation_p.Q450R	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGGAGGTGCAGTACGGCATC	0.667																																																	0													60.0	49.0	53.0					17																	78221983		2203	4300	6503	SO:0001583	missense	284129				CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.1349A>G	17.37:g.78221983A>G	ENSP00000355384:p.Gln450Arg	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000361193.3	37	CCDS11771.2	.	.	.	.	.	.	.	.	.	.	A	23.7	4.446203	0.84101	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.93247	-3.19;-3.19;-3.19	4.97	4.97	0.65823	.	0.124866	0.56097	D	0.000028	D	0.93455	0.7912	M	0.71581	2.175	0.51767	D	0.999936	P	0.51351	0.944	P	0.47891	0.56	D	0.93866	0.7158	10	0.87932	D	0	-32.3502	12.1887	0.54254	1.0:0.0:0.0:0.0	.	450	Q86WA9	S2611_HUMAN	R	450	ENSP00000403998:Q450R;ENSP00000440724:Q450R;ENSP00000355384:Q450R	ENSP00000355384:Q450R	Q	+	2	0	SLC26A11	75836578	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	5.051000	0.64257	1.873000	0.54277	0.482000	0.46254	CAG		0.667	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			
SLC9A3	6550	hgsc.bcm.edu;ucsc.edu	37	5	485324	485324	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr5:485324G>C	ENST00000264938.3	-	4	707	c.698C>G	c.(697-699)tCt>tGt	p.S233C	SLC9A3_ENST00000514375.1_Missense_Mutation_p.S233C	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	233					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGCCACGAAAGATTCAAACAC	0.632																																																	0													165.0	135.0	145.0					5																	485324		2201	4300	6501	SO:0001583	missense	6550				CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.698C>G	5.37:g.485324G>C	ENSP00000264938:p.Ser233Cys	Somatic		WXS	SOLID	Phase_I	B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389247	0.42410	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.17854	2.25;2.25	4.14	4.14	0.48551	Cation/H+ exchanger (1);	0.353536	0.29444	N	0.012138	T	0.46718	0.1407	M	0.84683	2.71	0.33931	D	0.642118	D;D	0.89917	1.0;1.0	D;D	0.79108	0.979;0.992	T	0.67325	-0.5699	10	0.72032	D	0.01	.	16.3914	0.83541	0.0:0.0:1.0:0.0	.	233;233	E9PF67;P48764	.;SL9A3_HUMAN	C	233	ENSP00000264938:S233C;ENSP00000422983:S233C	ENSP00000264938:S233C	S	-	2	0	SLC9A3	538324	1.000000	0.71417	0.721000	0.30653	0.112000	0.19704	6.924000	0.75823	2.027000	0.59764	0.555000	0.69702	TCT		0.632	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2		NM_004174	
UIMC1	51720	hgsc.bcm.edu	37	5	176382976	176382976	+	Silent	SNP	T	T	C			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr5:176382976T>C	ENST00000377227.4	-	8	1455	c.1323A>G	c.(1321-1323)gaA>gaG	p.E441E	UIMC1_ENST00000506128.1_Silent_p.E275E|UIMC1_ENST00000511320.1_Silent_p.E441E|UIMC1_ENST00000377219.2_Silent_p.E441E|UIMC1_ENST00000503273.1_5'UTR			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	441	Necessary for interaction with NR6A1 C- terminus.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAACAGTGATTTCTTCTGCAG	0.383																																																	0													113.0	107.0	109.0					5																	176382976		2203	4300	6503	SO:0001819	synonymous_variant	51720			AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"""receptor associated protein 80"""	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.1323A>G	5.37:g.176382976T>C		Somatic		WXS	SOLID	Phase_I	A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Silent	SNP	ENST00000377227.4	37	CCDS4408.1																																																																																				0.383	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1		NM_016290	
VPS13A	23230	hgsc.bcm.edu;ucsc.edu	37	9	79910543	79910543	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr9:79910543A>C	ENST00000360280.3	+	33	3853	c.3593A>C	c.(3592-3594)aAa>aCa	p.K1198T	VPS13A_ENST00000376636.3_Missense_Mutation_p.K1159T|VPS13A_ENST00000376634.4_Missense_Mutation_p.K1198T|VPS13A_ENST00000357409.5_Missense_Mutation_p.K1198T|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1198				K -> R (in Ref. 1; AAK61861). {ECO:0000305}.	cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACTGGTGTAAAAGAACTCGCA	0.438																																																	0													97.0	90.0	92.0					9																	79910543		2203	4300	6503	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3593A>C	9.37:g.79910543A>C	ENSP00000353422:p.Lys1198Thr	Somatic		WXS	SOLID	Phase_I	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.253197	0.80135	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	5.36	5.36	0.76844	.	0.060048	0.64402	D	0.000004	T	0.39733	0.1089	M	0.79123	2.44	0.80722	D	1	D;D;D;D	0.69078	0.975;0.969;0.997;0.997	P;P;D;P	0.64687	0.848;0.711;0.928;0.864	T	0.20907	-1.0261	10	0.20519	T	0.43	.	15.6507	0.77091	1.0:0.0:0.0:0.0	.	1159;1198;1198;1198	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	T	1198;1159;1198;1198	ENSP00000365821:K1198T;ENSP00000365823:K1159T;ENSP00000353422:K1198T;ENSP00000349985:K1198T	ENSP00000349985:K1198T	K	+	2	0	VPS13A	79100363	1.000000	0.71417	0.906000	0.35671	0.950000	0.60333	3.608000	0.54109	2.163000	0.67991	0.460000	0.39030	AAA		0.438	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2		NM_015186	
ZCWPW1	55063	hgsc.bcm.edu	37	7	100004924	100004924	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4893-01A-01D-1373-10	TCGA-CJ-4893-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9403d19b-9af5-478e-8ff2-1b2a9008fd13	41bb10ac-c625-417e-b123-16925beb07b3	g.chr7:100004924C>A	ENST00000398027.2	-	11	1239	c.992G>T	c.(991-993)tGg>tTg	p.W331L	ZCWPW1_ENST00000324725.6_Missense_Mutation_p.W211L|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.W332L|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.W211L	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	331	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.						zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CATGCCTGGCCACCTGGAGAA	0.453																																																	0													45.0	41.0	42.0					7																	100004924		1920	4119	6039	SO:0001583	missense	55063			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.992G>T	7.37:g.100004924C>A	ENSP00000381109:p.Trp331Leu	Somatic		WXS	SOLID	Phase_I	A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.165186	0.78339	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000471336;ENST00000379559	D;D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16;-4.16	5.52	5.52	0.82312	PWWP (2);	0.000000	0.52532	D	0.000072	D	0.98479	0.9493	M	0.92367	3.3	0.43977	D	0.996663	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.999;0.998;0.999;0.998	D	0.99372	1.0920	9	.	.	.	-6.7962	14.9692	0.71220	0.0:1.0:0.0:0.0	.	332;292;334;331;211	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	L	331;211;332;211;81;334	ENSP00000381109:W331L;ENSP00000419187:W211L;ENSP00000354210:W332L;ENSP00000314880:W211L;ENSP00000418351:W81L	.	W	-	2	0	ZCWPW1	99842860	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.017000	0.57167	2.594000	0.87642	0.550000	0.68814	TGG		0.453	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1		NM_017984	
