#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
FLG	2312	genome.wustl.edu	37	1	152277448	152277448	+	Missense_Mutation	SNP	C	C	T	rs147439082	byFrequency	TCGA-AB-2875-03A-01W-0732-08	TCGA-AB-2875-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	cbef6054-d359-4131-aa31-f1157d1eedf0	d438f139-6476-4e94-b41a-487b5120ffa2	g.chr1:152277448C>T	ENST00000368799.1	-	3	9949	c.9914G>A	c.(9913-9915)cGc>cAc	p.R3305H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3305	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTGGTGGCGGGATCCGTG	0.562									Ichthyosis				C|||	2	0.000399361	0.0008	0.0	5008	,	,		20210	0.0		0.001	False		,,,				2504	0.0					dbGAP											0			1						C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	381.0	374.0	376.0		9914	-2.3	0.0	1	dbSNP_134	376	1,8599	1.2+/-3.3	0,1,4299	no	missense	FLG	NM_002016.1	29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	3305/4062	152277448	3,13003	2203	4300	6503	150544072	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9914G>A	1.37:g.152277448C>T	ENSP00000357789:p.Arg3305His	Somatic	168	1.18	2		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	150544072	118	28.99	49	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473	p.R3305H	ENST00000368799.1	37	c.9914	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795343	0.31777	4.54E-4	1.16E-4	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.04015	3.73	3.45	-2.33	0.06724	.	.	.	.	.	T	0.01029	0.0034	N	0.21448	0.665	0.09310	N	1	B	0.32526	0.374	B	0.32928	0.155	T	0.45145	-0.9281	9	0.33141	T	0.24	.	7.6181	0.28169	0.0:0.4282:0.0:0.5718	.	3305	P20930	FILA_HUMAN	H	3305;243	ENSP00000357789:R3305H	ENSP00000357786:R243H	R	-	2	0	FLG	150544072	0.000000	0.05858	0.000000	0.03702	0.152000	0.21847	-4.388000	0.00242	-0.522000	0.06417	0.298000	0.19748	CGC	-	HMMPfam_Filaggrin		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	C	NM_002016		150544072	-1	no_errors	NM_002016.1	genbank	human	provisional	54_36p	missense	SNP	0.000	T
CADM3	57863	genome.wustl.edu	37	1	159163315	159163315	+	Missense_Mutation	SNP	G	G	A	rs148250608		TCGA-AB-2875-03A-01W-0732-08	TCGA-AB-2875-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	cbef6054-d359-4131-aa31-f1157d1eedf0	d438f139-6476-4e94-b41a-487b5120ffa2	g.chr1:159163315G>A	ENST00000368125.4	+	4	642	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	CADM3_ENST00000368124.4_Missense_Mutation_p.R196Q|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	162	Ig-like C2-type 1.		R -> W (in dbSNP:rs3026987).		adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CCTGCAGCCCGGCTCACCTGG	0.517																																						dbGAP											0			1						G	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	77.0	75.0	76.0		485,587	2.8	1.0	1	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CADM3	NM_001127173.1,NM_021189.3	43,43	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign,benign	162/399,196/433	159163315	3,13003	2203	4300	6503	157429939	SO:0001583	missense	0			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.485G>A	1.37:g.159163315G>A	ENSP00000357107:p.Arg162Gln	Somatic	79	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	157429939	151	36.18	89	Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	HMMSmart_4.1m,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_SSF48726	p.R196Q	ENST00000368125.4	37	c.587	CCDS44251.1	1	.	.	.	.	.	.	.	.	.	.	G	9.724	1.160435	0.21454	4.54E-4	1.16E-4	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	T;T;T	0.75589	-0.95;-0.95;-0.95	5.13	2.77	0.32553	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.004020	0.08017	N	0.991376	T	0.32133	0.0819	L	0.28192	0.835	0.22226	N	0.999273	B;B;B	0.18461	0.0;0.028;0.003	B;B;B	0.12156	0.001;0.007;0.001	T	0.19321	-1.0309	10	0.12103	T	0.63	.	3.5519	0.07850	0.5585:0.0:0.0956:0.3458	.	162;162;196	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	Q	196;162;162	ENSP00000357106:R196Q;ENSP00000357107:R162Q;ENSP00000387802:R162Q	ENSP00000357106:R196Q	R	+	2	0	CADM3	157429939	0.929000	0.31497	0.989000	0.46669	0.989000	0.77384	2.135000	0.42112	0.394000	0.25230	-0.302000	0.09304	CGG	-	HMMSmart_IG,HMMPfam_C2-set_2,superfamily_SSF48726		0.517	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CADM3	protein_coding	OTTHUMT00000090330.1	G	NM_021189		157429939	+1	no_errors	NM_021189.1	genbank	human	validated	54_36p	missense	SNP	0.991	A
MAP2	4133	genome.wustl.edu	37	2	210558182	210558182	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2875-03A-01W-0732-08	TCGA-AB-2875-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	cbef6054-d359-4131-aa31-f1157d1eedf0	d438f139-6476-4e94-b41a-487b5120ffa2	g.chr2:210558182G>A	ENST00000360351.4	+	7	1794	c.1288G>A	c.(1288-1290)Gga>Aga	p.G430R	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.G426R|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	430					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CACCCCCAGTGGACAGGAACC	0.428																																					Pancreas(27;423 979 28787 29963)	dbGAP											0			2											79.0	81.0	81.0					2																	210558182		2203	4300	6503	210266427	SO:0001583	missense	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1288G>A	2.37:g.210558182G>A	ENSP00000353508:p.Gly430Arg	Somatic	40	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	210266427	149	25.74	52	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	HMMPfam_Tubulin-binding,PatternScan_TAU_MAP,HMMPfam_MAP2_projctn,HMMPfam_RII_binding_1	p.G430R	ENST00000360351.4	37	c.1288	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	8.903	0.956765	0.18507	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	T;T;T	0.18016	2.24;2.24;2.24	5.7	5.7	0.88788	MAP2/Tau projection (1);	0.305446	0.28301	N	0.015841	T	0.20333	0.0489	L	0.43152	1.355	0.09310	N	1	P;P	0.51147	0.928;0.942	P;P	0.51487	0.541;0.671	T	0.23048	-1.0199	10	0.40728	T	0.16	-7.038	5.978	0.19391	0.1129:0.0:0.7013:0.1858	.	426;430	P11137-3;P11137	.;MAP2_HUMAN	R	430;512;426	ENSP00000353508:G430R;ENSP00000409969:G512R;ENSP00000392164:G426R	ENSP00000353508:G430R	G	+	1	0	MAP2	210266427	0.248000	0.23930	0.210000	0.23637	0.081000	0.17604	1.229000	0.32600	2.682000	0.91365	0.650000	0.86243	GGA	-	HMMPfam_MAP2_projctn		0.428	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210266427	+1	no_errors	NM_002374.1	genbank	human	reviewed	54_36p	missense	SNP	0.002	A
MYLK	4638	genome.wustl.edu	37	3	123427647	123427647	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2875-03A-01W-0732-08	TCGA-AB-2875-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	cbef6054-d359-4131-aa31-f1157d1eedf0	d438f139-6476-4e94-b41a-487b5120ffa2	g.chr3:123427647G>T	ENST00000475616.1	-	12	2037	c.2038C>A	c.(2038-2040)Ctt>Att	p.L680I	MYLK_ENST00000360304.3_Missense_Mutation_p.L680I|MYLK_ENST00000346322.5_Missense_Mutation_p.L611I|MYLK_ENST00000359169.1_Missense_Mutation_p.L680I|MYLK_ENST00000360772.3_Missense_Mutation_p.L680I			Q15746	MYLK_HUMAN	myosin light chain kinase	680	Ig-like C2-type 5.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGGATACAAAGGCTGTGCTGA	0.572																																						dbGAP											0			3											109.0	103.0	105.0					3																	123427647		2203	4300	6503	124910337	SO:0001583	missense	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2038C>A	3.37:g.123427647G>T	ENSP00000418335:p.Leu680Ile	Somatic	121	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	124910337	105	34.76	57	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	HMMSmart_SM00219,HMMSmart_SM00220,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_PROTEIN_KINASE_ST,superfamily_Fibronectin type III,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_Immunoglobulin	p.L680I	ENST00000475616.1	37	c.2038	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872962	0.91664	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	4.28	4.28	0.50868	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86451	0.5936	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.992;0.999;0.998;0.999	D	0.89514	0.3773	9	0.72032	D	0.01	.	17.2559	0.87056	0.0:0.0:1.0:0.0	.	680;611;680;611;680	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	I	680;680;680;611;680	ENSP00000354004:L680I;ENSP00000353452:L680I;ENSP00000352088:L680I;ENSP00000320622:L611I;ENSP00000418335:L680I	ENSP00000320622:L611I	L	-	1	0	MYLK	124910337	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.576000	0.74023	2.339000	0.79563	0.650000	0.86243	CTT	-	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin		0.572	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	protein_coding	OTTHUMT00000356464.1	G	NM_053025		124910337	-1	no_errors	NM_053025.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
SULT1B1	27284	genome.wustl.edu	37	4	70599886	70599886	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2875-03A-01W-0732-08	TCGA-AB-2875-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	cbef6054-d359-4131-aa31-f1157d1eedf0	d438f139-6476-4e94-b41a-487b5120ffa2	g.chr4:70599886C>T	ENST00000310613.3	-	5	769	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	158					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TCCAGATATTCTTCCCAGGTA	0.294																																						dbGAP											0			4											24.0	25.0	25.0					4																	70599886		2201	4299	6500	70634475	SO:0001583	missense	0			D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.472G>A	4.37:g.70599886C>T	ENSP00000308770:p.Glu158Lys	Somatic	21	0.00	0		5	0.00	0	WXS	Illumina HiSeq	Phase_IV	70634475	125	32.98	63	O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	HMMPfam_Sulfotransfer_1,superfamily_SSF52540	p.E158K	ENST00000310613.3	37	c.472	CCDS3530.1	4	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692624	0.30052	.	.	ENSG00000173597	ENST00000310613	T	0.02158	4.42	4.81	2.95	0.34219	Sulfotransferase domain (1);	0.110124	0.39909	N	0.001223	T	0.02848	0.0085	L	0.58302	1.8	0.09310	N	1	B	0.24963	0.115	B	0.27380	0.079	T	0.40683	-0.9550	10	0.51188	T	0.08	.	3.5381	0.07800	0.177:0.5586:0.1712:0.0932	.	158	O43704	ST1B1_HUMAN	K	158	ENSP00000308770:E158K	ENSP00000308770:E158K	E	-	1	0	SULT1B1	70634475	0.003000	0.15002	0.626000	0.29213	0.484000	0.33280	0.961000	0.29267	0.487000	0.27698	0.460000	0.39030	GAA	-	HMMPfam_Sulfotransfer_1,superfamily_SSF52540		0.294	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1B1	protein_coding	OTTHUMT00000251563.2	C	NM_014465		70634475	-1	no_errors	NM_014465.3	genbank	human	reviewed	54_36p	missense	SNP	0.608	T
BMPER	168667	genome.wustl.edu	37	7	33945274	33945274	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2875-03A-01W-0732-08	TCGA-AB-2875-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	cbef6054-d359-4131-aa31-f1157d1eedf0	d438f139-6476-4e94-b41a-487b5120ffa2	g.chr7:33945274C>A	ENST00000297161.2	+	2	423	c.49C>A	c.(49-51)Cgc>Agc	p.R17S	BMPER_ENST00000426693.1_Missense_Mutation_p.R17S	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	17					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TTACTGCCGCCGCTCGCCTGG	0.662																																						dbGAP											0			7											46.0	43.0	44.0					7																	33945274		2203	4300	6503	33911799	SO:0001583	missense	0				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.49C>A	7.37:g.33945274C>A	ENSP00000297161:p.Arg17Ser	Somatic	42	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	33911799	34	33.96	18	A8K1P8|Q8TF36	Missense_Mutation	SNP	HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_C8,HMMPfam_TIL	p.R17S	ENST00000297161.2	37	c.49	CCDS5442.1	7	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297064	0.60086	.	.	ENSG00000164619	ENST00000297161;ENST00000426693;ENST00000436222	T;T	0.19105	2.17;2.17	3.65	2.67	0.31697	.	0.476823	0.18310	N	0.145140	T	0.07098	0.0180	N	0.02011	-0.69	0.24205	N	0.995497	B	0.16396	0.017	B	0.17979	0.02	T	0.34354	-0.9832	10	0.10636	T	0.68	.	10.6144	0.45441	0.0:0.803:0.197:0.0	.	17	Q8N8U9	BMPER_HUMAN	S	17	ENSP00000297161:R17S;ENSP00000393950:R17S	ENSP00000297161:R17S	R	+	1	0	BMPER	33911799	0.976000	0.34144	0.998000	0.56505	0.770000	0.43624	0.093000	0.15086	2.014000	0.59158	0.557000	0.71058	CGC	-	NULL		0.662	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPER	protein_coding	OTTHUMT00000250570.2	C	NM_133468		33911799	+1	no_errors	NM_133468.3	genbank	human	validated	54_36p	missense	SNP	0.866	A
PPP1R3A	5506	genome.wustl.edu	37	7	113518991	113518991	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2875-03A-01W-0732-08	TCGA-AB-2875-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	cbef6054-d359-4131-aa31-f1157d1eedf0	d438f139-6476-4e94-b41a-487b5120ffa2	g.chr7:113518991T>C	ENST00000284601.3	-	4	2224	c.2156A>G	c.(2155-2157)cAt>cGt	p.H719R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	719					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AGTAATGCCATGATCAGCTAG	0.388																																						dbGAP											0			7											184.0	178.0	180.0					7																	113518991		2203	4300	6503	113306227	SO:0001583	missense	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2156A>G	7.37:g.113518991T>C	ENSP00000284601:p.His719Arg	Somatic	25	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	113306227	193	38.68	123	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	HMMPfam_CBM_21	p.H719R	ENST00000284601.3	37	c.2156	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	T	13.03	2.114811	0.37339	.	.	ENSG00000154415	ENST00000284601	T	0.42900	0.96	6.01	2.21	0.28008	.	0.257506	0.34133	N	0.004232	T	0.55449	0.1921	M	0.72894	2.215	0.31045	N	0.71583	D	0.89917	1.0	D	0.71184	0.972	T	0.57952	-0.7722	10	0.87932	D	0	-2.2788	5.0431	0.14469	0.1159:0.0629:0.1214:0.6998	.	719	Q16821	PPR3A_HUMAN	R	719	ENSP00000284601:H719R	ENSP00000284601:H719R	H	-	2	0	PPP1R3A	113306227	1.000000	0.71417	0.975000	0.42487	0.624000	0.37722	2.034000	0.41145	0.133000	0.18654	-0.297000	0.09499	CAT	-	NULL		0.388	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	protein_coding	OTTHUMT00000346724.1	T	NM_002711		113306227	-1	no_errors	NM_002711.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
DRD2	1813	genome.wustl.edu	37	11	113281641	113281641	+	Splice_Site	SNP	G	G	A	rs201123323		TCGA-AB-2875-03A-01W-0732-08	TCGA-AB-2875-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	cbef6054-d359-4131-aa31-f1157d1eedf0	d438f139-6476-4e94-b41a-487b5120ffa2	g.chr11:113281641G>A	ENST00000362072.3	-	8	1484	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G	DRD2_ENST00000538967.1_Splice_Site_p.G382G|DRD2_ENST00000544518.1_Splice_Site_p.G379G|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000346454.3_Splice_Site_p.G351G|DRD2_ENST00000542968.1_Splice_Site_p.G380G|DRD2_ENST00000355319.2_Splice_Site_p.G382G	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	380					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGATGAACACGCCTGGGGGAG	0.622																																						dbGAP											0			11											115.0	87.0	97.0					11																	113281641		2201	4296	6497	112786851	SO:0001630	splice_region_variant	0			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.1139-1C>T	11.37:g.113281641G>A		Somatic	269	0.74	2		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	112786851	115	39.59	78	Q9NZR3|Q9UPA9	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.G380	ENST00000362072.3	37	c.1140	CCDS8361.1	11																																																																																			-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.622	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	protein_coding	OTTHUMT00000395834.1	G	NM_000795	Silent	112786851	-1	no_errors	NM_000795.3	genbank	human	reviewed	54_36p	silent	SNP	0.996	A
CEP290	80184	genome.wustl.edu	37	12	88482885	88482885	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2875-03A-01W-0732-08	TCGA-AB-2875-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	cbef6054-d359-4131-aa31-f1157d1eedf0	d438f139-6476-4e94-b41a-487b5120ffa2	g.chr12:88482885G>A	ENST00000552810.1	-	31	4296	c.3953C>T	c.(3952-3954)aCa>aTa	p.T1318I	CEP290_ENST00000547691.2_Missense_Mutation_p.T378I|CEP290_ENST00000309041.7_Missense_Mutation_p.T1320I|CEP290_ENST00000397838.3_Missense_Mutation_p.T378I	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1318					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CATCTCCAATGTTTTGTTCTC	0.299																																						dbGAP											0			12											87.0	79.0	81.0					12																	88482885		1806	4073	5879	87007016	SO:0001583	missense	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3953C>T	12.37:g.88482885G>A	ENSP00000448012:p.Thr1318Ile	Somatic	54	0.00	0		10	50.00	10	WXS	Illumina HiSeq	Phase_IV	87007016	144	37.71	89	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.T1318I	ENST00000552810.1	37	c.3953	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916290	0.33815	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.65178	0.45;-0.14;-0.14;0.45	5.57	5.57	0.84162	.	0.339760	0.35646	N	0.003071	T	0.55657	0.1934	L	0.43152	1.355	0.44937	D	0.997955	B	0.31383	0.321	B	0.23419	0.046	T	0.52815	-0.8525	10	0.34782	T	0.22	.	19.5464	0.95299	0.0:0.0:1.0:0.0	.	1318	O15078	CE290_HUMAN	I	378;1318;1320;378	ENSP00000446905:T378I;ENSP00000448012:T1318I;ENSP00000308021:T1320I;ENSP00000380938:T378I	ENSP00000308021:T1320I	T	-	2	0	CEP290	87007016	1.000000	0.71417	0.882000	0.34594	0.911000	0.54048	8.898000	0.92538	2.629000	0.89072	0.591000	0.81541	ACA	-	NULL		0.299	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	protein_coding	OTTHUMT00000406344.1	G	NM_025114		87007016	-1	no_errors	NM_025114.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
FCGBP	8857	genome.wustl.edu	37	19	40433435	40433435	+	Silent	SNP	G	G	A			TCGA-AB-2875-03A-01W-0732-08	TCGA-AB-2875-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	cbef6054-d359-4131-aa31-f1157d1eedf0	d438f139-6476-4e94-b41a-487b5120ffa2	g.chr19:40433435G>A	ENST00000221347.6	-	2	841	c.834C>T	c.(832-834)taC>taT	p.Y278Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	278	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCCATGGTTGTAGGTCAGCT	0.592																																						dbGAP											0			19											54.0	47.0	50.0					19																	40433435		2203	4300	6503	45125275	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.834C>T	19.37:g.40433435G>A		Somatic	291	0.34	1		1	0.00	0	WXS	Illumina HiSeq	Phase_IV	45125275	117	29.34	49	O95784	Silent	SNP	HMMSmart_VWC,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_TIL_assoc,HMMSmart_FOLN,HMMPfam_C8,HMMPfam_TIL	p.Y278	ENST00000221347.6	37	c.834	CCDS12546.1	19																																																																																			-	NULL		0.592	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	G	NM_003890		45125275	-1	no_errors	NM_003890.2	genbank	human	validated	54_36p	silent	SNP	0.223	A
FLT3	2322	genome.wustl.edu	37	13	28608261	28608262	+	In_Frame_Ins	INS	-	-	TTCATATTCTCTGAAATCAACGTAGGCCAC			TCGA-AB-2875-03A-01W-0732-08	TCGA-AB-2875-11A-01W-0732-08	-	-	-	TTCATATTCTCTGAAATCAACGTAGGCCAC	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	cbef6054-d359-4131-aa31-f1157d1eedf0	d438f139-6476-4e94-b41a-487b5120ffa2	g.chr13:28608261_28608262insTTCATATTCTCTGAAATCAACGTAGGCCAC	ENST00000241453.7	-	14	1875_1876	c.1794_1795insGTGGCCTACGTTGATTTCAGAGAATATGAA	c.(1792-1797)gaatat>gaaGTGGCCTACGTTGATTTCAGAGAATATGAAtat	p.597_598insEVAYVDFREY	FLT3_ENST00000537084.1_In_Frame_Ins_p.597_598insEVAYVDFREY|FLT3_ENST00000380982.4_In_Frame_Ins_p.597_598insEVAYVDFREY	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	597	Important for normal regulation of the kinase activity and for maintaining the kinase in an inactive state in the absence of bound ligand.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.597_598>DYVDFREY(1)|p.E598_Y599ins22(1)|p.E598_Y599ins25(1)|p.E598_Y599ins14(1)|p.E598_Y599insFYVDFREYE(1)|p.Y599_D600insFDFREYE(1)|p.Y599_D600>NEYFYVDFREYEY(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTGAGATCATATTCATATTCTC	0.376			"""Mis, O"""		"""AML, ALL"""																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	7	Insertion - In frame(6)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(7)	13																																								27506262	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1794_1795insGTGGCCTACGTTGATTTCAGAGAATATGAA	13.37:g.28608261_28608262insTTCATATTCTCTGAAATCAACGTAGGCCAC	ENSP00000241453:p.Tyr597_Glu598insGluValAlaTyrValAspPheArgGluTyr	Somatic	NA	NA	NA		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	27506261	NA	NA	NA	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.598in_frame_insVAYVDFREYE	ENST00000241453.7	37	c.1795_1794	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.376	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506262	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.999:0.789	TTCATATTCTCTGAAATCAACGTAGGCCAC
