#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_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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
YME1L1	10730	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	27420861	27420861	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr10:27420861C>T	ENST00000326799.3	-	9	1104	c.956G>A	c.(955-957)cGg>cAg	p.R319Q	YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000376016.3_Missense_Mutation_p.R262Q|YME1L1_ENST00000375972.3_Missense_Mutation_p.R229Q	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	319					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R319L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGTTGTTGTCCGGAAGCGGAC	0.373																																																1	Substitution - Missense(1)	lung(1)											113.0	108.0	110.0					10																	27420861		2203	4300	6503	SO:0001583	missense	10730			AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.956G>A	10.37:g.27420861C>T	ENSP00000318480:p.Arg319Gln		B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	C	36	5.825289	0.96996	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122;ENST00000427324	D;D;D	0.93247	-3.17;-3.19;-3.12	5.49	5.49	0.81192	Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.95481	0.8532	L	0.55017	1.72	0.80722	D	1	D;D;P	0.89917	1.0;0.992;0.797	P;P;B	0.62382	0.901;0.791;0.389	D	0.95281	0.8386	10	0.59425	D	0.04	-4.4474	19.7571	0.96298	0.0:1.0:0.0:0.0	.	229;262;319	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	Q	262;319;319;229;65;229	ENSP00000365184:R262Q;ENSP00000318480:R319Q;ENSP00000365139:R229Q	ENSP00000318480:R319Q	R	-	2	0	YME1L1	27460867	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.417000	0.80156	2.744000	0.94065	0.650000	0.86243	CGG		0.373	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		20	47	20	47
HPS5	11234	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	18339305	18339305	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr11:18339305C>T	ENST00000349215.3	-	2	378	c.101G>A	c.(100-102)cGt>cAt	p.R34H	HPS5_ENST00000531848.1_Intron|HPS5_ENST00000438420.2_Intron|HPS5_ENST00000396253.3_Intron	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	34					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CACCTTTAGACGACTGGAGTC	0.463									Hermansky-Pudlak syndrome																																							0													59.0	53.0	55.0					11																	18339305		2199	4293	6492	SO:0001583	missense	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.101G>A	11.37:g.18339305C>T	ENSP00000265967:p.Arg34His		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345874	0.95807	.	.	ENSG00000110756	ENST00000349215	T	0.63255	-0.03	5.05	5.05	0.67936	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71281	0.3321	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.917;1.0	T	0.75505	-0.3294	10	0.87932	D	0	.	18.4032	0.90525	0.0:1.0:0.0:0.0	.	50;34	Q8IZE8;Q9UPZ3	.;HPS5_HUMAN	H	34	ENSP00000265967:R34H	ENSP00000265967:R34H	R	-	2	0	HPS5	18295881	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.334000	0.79466	0.591000	0.81541	CGT		0.463	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		8	12	8	12
PLEKHG6	55200	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	6422805	6422805	+	Missense_Mutation	SNP	G	G	A	rs373302901		TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr12:6422805G>A	ENST00000396988.3	+	3	379	c.149G>A	c.(148-150)cGc>cAc	p.R50H	PLEKHG6_ENST00000536531.1_Missense_Mutation_p.R50H|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R50H|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.R18H	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	50						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GATCCCAGTCGCCGACGCCTC	0.637																																																0								G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	43.0	50.0	48.0		149,53,149	-1.4	0.0	12		48	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PLEKHG6	NM_001144856.1,NM_001144857.1,NM_018173.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	50/791,18/759,50/791	6422805	1,13005	2203	4300	6503	SO:0001583	missense	55200			AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.149G>A	12.37:g.6422805G>A	ENSP00000380185:p.Arg50His		Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	G	8.459	0.854874	0.17106	0.0	1.16E-4	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.63744	0.79;0.79;0.79;-0.06	4.35	-1.35	0.09114	.	0.774806	0.11390	N	0.568896	T	0.46718	0.1407	L	0.48362	1.52	0.09310	N	0.999999	B;B;B	0.13145	0.007;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.32613	-0.9900	10	0.37606	T	0.19	-14.4929	3.3809	0.07254	0.4698:0.0:0.3215:0.2086	.	18;50;50	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	H	50;50;50;18	ENSP00000011684:R50H;ENSP00000442836:R50H;ENSP00000380185:R50H;ENSP00000393194:R18H	ENSP00000011684:R50H	R	+	2	0	PLEKHG6	6293066	0.001000	0.12720	0.002000	0.10522	0.922000	0.55478	0.099000	0.15210	-0.123000	0.11745	-0.379000	0.06801	CGC		0.637	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		44	91	44	91
SLC6A2	6530	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	55735794	55735794	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr16:55735794C>T	ENST00000379906.2	+	13	2033	c.1778C>T	c.(1777-1779)aCg>aTg	p.T593M	SLC6A2_ENST00000561820.1_Intron|SLC6A2_ENST00000568943.1_Missense_Mutation_p.T593M|SLC6A2_ENST00000566163.1_Missense_Mutation_p.T548M|SLC6A2_ENST00000567238.1_Missense_Mutation_p.T488M|SLC6A2_ENST00000219833.8_Missense_Mutation_p.T593M|SLC6A2_ENST00000414754.3_Missense_Mutation_p.T537M	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	593					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TATGGCATCACGCCAGAGAAC	0.622											OREG0023807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													83.0	81.0	82.0					16																	55735794		2198	4300	6498	SO:0001583	missense	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1778C>T	16.37:g.55735794C>T	ENSP00000369237:p.Thr593Met	1010	B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213955	0.79352	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T	0.74842	-0.88;-0.87	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.79106	0.4390	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.973;0.97	T	0.80594	-0.1313	10	0.49607	T	0.09	.	17.162	0.86806	0.0:1.0:0.0:0.0	.	307;488;593	F5H0T4;B4DX48;P23975	.;.;SC6A2_HUMAN	M	593;307;593;593	ENSP00000369237:T593M;ENSP00000219833:T593M	ENSP00000219833:T593M	T	+	2	0	SLC6A2	54293295	1.000000	0.71417	0.938000	0.37757	0.867000	0.49689	5.449000	0.66619	2.346000	0.79739	0.650000	0.86243	ACG		0.622	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			40	101	40	101
TRPV2	51393	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	16321163	16321163	+	Nonsense_Mutation	SNP	C	C	T	rs373733043		TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr17:16321163C>T	ENST00000338560.7	+	2	580	c.181C>T	c.(181-183)Cga>Tga	p.R61*	RP11-138I1.2_ENST00000580996.1_RNA|TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	61	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTCAACTACCGAAAGGGAAC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		19562	0.0		0.0	False		,,,				2504	0.001															0								C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	33.0	32.0	32.0		181	-2.2	0.0	17		32	0,8600		0,0,4300	no	stop-gained	TRPV2	NM_016113.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		61/765	16321163	1,13005	2203	4300	6503	SO:0001587	stop_gained	51393			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.181C>T	17.37:g.16321163C>T	ENSP00000342222:p.Arg61*		A6NML2|A8K0Z0|Q9Y670	Nonsense_Mutation	SNP	ENST00000338560.7	37	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	37	6.001196	0.97189	2.27E-4	0.0	ENSG00000187688	ENST00000338560	.	.	.	5.39	-2.24	0.06909	.	1.424990	0.04676	N	0.411446	.	.	.	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.9845	6.2534	0.20859	0.4311:0.4048:0.0989:0.0652	.	.	.	.	X	61	.	ENSP00000342222:R61X	R	+	1	2	TRPV2	16261888	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.436000	0.06922	-0.909000	0.03852	-2.039000	0.00418	CGA		0.597	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		14	45	14	45
UNC13D	201294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	73832286	73832286	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr17:73832286C>T	ENST00000207549.4	-	16	1820	c.1441G>A	c.(1441-1443)Gtg>Atg	p.V481M	UNC13D_ENST00000412096.2_Missense_Mutation_p.V481M	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	481	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCACCTGCACCATGGGTTGA	0.667									Familial Hemophagocytic Lymphohistiocytosis																																							0													21.0	20.0	20.0					17																	73832286		2197	4291	6488	SO:0001583	missense	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1441G>A	17.37:g.73832286C>T	ENSP00000207549:p.Val481Met		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312869	0.40895	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.70516	-0.46;-0.49	4.19	2.19	0.27852	.	0.241901	0.35525	N	0.003148	T	0.70029	0.3177	L	0.54323	1.7	0.34002	D	0.650416	B;B;D	0.57571	0.041;0.02;0.98	B;B;P	0.52267	0.045;0.034;0.694	T	0.73959	-0.3818	10	0.30078	T	0.28	-2.2954	10.1693	0.42900	0.0:0.8187:0.0:0.1813	.	481;481;481	B4DTQ6;Q70J99-3;Q70J99	.;.;UN13D_HUMAN	M	481	ENSP00000207549:V481M;ENSP00000388093:V481M	ENSP00000207549:V481M	V	-	1	0	UNC13D	71343881	0.996000	0.38824	0.996000	0.52242	0.610000	0.37248	1.794000	0.38774	0.416000	0.25844	-1.149000	0.01842	GTG		0.667	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		5	29	5	29
UNC13A	23025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	17752214	17752214	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr19:17752214T>C	ENST00000519716.2	-	21	2623	c.2624A>G	c.(2623-2625)tAc>tGc	p.Y875C	UNC13A_ENST00000551649.1_Missense_Mutation_p.Y875C|UNC13A_ENST00000252773.7_Missense_Mutation_p.Y875C|UNC13A_ENST00000428389.2_Missense_Mutation_p.Y963C|UNC13A_ENST00000552293.1_Missense_Mutation_p.Y875C|UNC13A_ENST00000550896.1_Missense_Mutation_p.Y873C	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	875					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CATGGCTTGGTAGATGGACTC	0.592																																																0													60.0	64.0	63.0					19																	17752214		2146	4268	6414	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2624A>G	19.37:g.17752214T>C	ENSP00000429562:p.Tyr875Cys		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	t	16.65	3.182895	0.57800	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.86230	-2.06;-2.04;-2.07;-1.92;-1.96;-2.09	3.1	3.1	0.35709	.	0.166139	0.41294	U	0.000909	D	0.92227	0.7535	M	0.82056	2.57	0.47905	D	0.99954	D	0.89917	1.0	D	0.83275	0.996	D	0.92245	0.5804	10	0.87932	D	0	-12.44	9.6227	0.39732	0.0:0.0:0.0:1.0	.	875	Q9UPW8	UN13A_HUMAN	C	875;963;875;875;875;873	ENSP00000429562:Y875C;ENSP00000400409:Y963C;ENSP00000252773:Y875C;ENSP00000447236:Y875C;ENSP00000447572:Y875C;ENSP00000446831:Y873C	ENSP00000252773:Y875C	Y	-	2	0	UNC13A	17613214	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.679000	0.84048	1.441000	0.47550	0.249000	0.18162	TAC		0.592	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		24	45	24	45
KIR3DL1	3811	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	55285048	55285048	+	Intron	SNP	T	T	A			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr19:55285048T>A	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.S112T|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.S112T			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTATCAGGTGTCAGCTCCCAG	0.522																																																0													269.0	240.0	250.0					19																	55285048		2178	4211	6389	SO:0001627	intron_variant	3802			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-43941T>A	19.37:g.55285048T>A			O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37		.	.	.	.	.	.	.	.	.	.	T	12.47	1.947374	0.34377	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.01152	5.26;5.26	1.24	1.24	0.21308	.	.	.	.	.	T	0.08044	0.0201	H	0.94698	3.57	0.09310	N	1	D;D	0.89917	0.986;1.0	D;D	0.91635	0.954;0.999	T	0.10132	-1.0643	9	0.87932	D	0	.	4.6663	0.12668	0.0:0.0:0.0:1.0	.	112;112	Q6IST4;Q6H2H3	.;.	T	112	ENSP00000336769:S112T;ENSP00000291633:S112T	ENSP00000291633:S112T	S	+	1	0	KIR2DL1	59976860	0.217000	0.23597	0.010000	0.14722	0.006000	0.05464	1.756000	0.38390	0.831000	0.34780	0.327000	0.21459	TCA		0.522	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		95	126	95	126
FOXS1	2307	hgsc.bcm.edu;broad.mit.edu	37	20	30432674	30432674	+	Silent	SNP	G	G	A			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr20:30432674G>A	ENST00000375978.3	-	1	746	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	224					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CAGCCTCTGAGAAGCCGGCAG	0.587																																																0													39.0	41.0	41.0					20																	30432674		2203	4300	6503	SO:0001819	synonymous_variant	2307			AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.672C>T	20.37:g.30432674G>A			Q96D28	Silent	SNP	ENST00000375978.3	37	CCDS13192.1																																																																																				0.587	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		6	91	6	91
ZNF335	63925	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	44578967	44578967	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr20:44578967G>C	ENST00000322927.2	-	22	3478	c.3378C>G	c.(3376-3378)caC>caG	p.H1126Q	ZNF335_ENST00000426788.1_Missense_Mutation_p.H971Q	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1126					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CATCAGGACTGTGCAGCCGCT	0.582																																																0													96.0	100.0	98.0					20																	44578967		2203	4300	6503	SO:0001583	missense	63925			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3378C>G	20.37:g.44578967G>C	ENSP00000325326:p.His1126Gln		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271229	0.59649	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.22336	2.18;1.96	4.86	1.62	0.23740	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	N	0.24115	0.695	0.58432	D	0.99999	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.02852	-1.1102	10	0.87932	D	0	-24.0484	7.1688	0.25706	0.3032:0.0:0.6968:0.0	.	971;1126	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	Q	1126;903;971	ENSP00000325326:H1126Q;ENSP00000397098:H971Q	ENSP00000243961:H903Q	H	-	3	2	ZNF335	44012374	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	2.669000	0.46825	0.263000	0.21812	0.655000	0.94253	CAC		0.582	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		55	82	55	82
SYNJ1	8867	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	21	34038343	34038343	+	Silent	SNP	G	G	A			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr21:34038343G>A	ENST00000322229.7	-	16	2054	c.2055C>T	c.(2053-2055)ttC>ttT	p.F685F	SYNJ1_ENST00000382491.3_Silent_p.F680F|SYNJ1_ENST00000382499.2_Silent_p.F724F|SYNJ1_ENST00000433931.2_Silent_p.F724F|SYNJ1_ENST00000357345.3_Silent_p.F685F			O43426	SYNJ1_HUMAN	synaptojanin 1	685	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGCTACAGACGAAGCAAAGGC	0.423																																																0													87.0	68.0	74.0					21																	34038343		2203	4300	6503	SO:0001819	synonymous_variant	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.2055C>T	21.37:g.34038343G>A			O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	CCDS54484.1																																																																																				0.423	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				11	22	11	22
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			22	34	22	34
ITIH3	3699	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	52840399	52840399	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr3:52840399G>A	ENST00000449956.2	+	18	2039	c.2033G>A	c.(2032-2034)cGc>cAc	p.R678H	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	678					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R678H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACAGTGCTGCGCCTTATTCAG	0.612																																																1	Substitution - Missense(1)	large_intestine(1)											44.0	44.0	44.0					3																	52840399		1954	4137	6091	SO:0001583	missense	3699				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.2033G>A	3.37:g.52840399G>A	ENSP00000415769:p.Arg678His		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679546	0.47886	.	.	ENSG00000162267	ENST00000273291;ENST00000449956	T	0.01705	4.68	5.38	4.27	0.50696	.	0.337826	0.33496	N	0.004854	T	0.03011	0.0089	M	0.74881	2.28	0.29739	N	0.837221	P	0.48016	0.904	B	0.37650	0.255	T	0.16988	-1.0384	10	0.52906	T	0.07	-10.1344	11.5428	0.50675	0.1232:0.0:0.8768:0.0	.	678	Q06033	ITIH3_HUMAN	H	673;678	ENSP00000415769:R678H	ENSP00000273291:R673H	R	+	2	0	ITIH3	52815439	0.786000	0.28738	1.000000	0.80357	0.106000	0.19336	1.342000	0.33919	2.692000	0.91855	0.561000	0.74099	CGC		0.612	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		13	44	13	44
SLC23A1	9963	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	138713162	138713162	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr5:138713162A>G	ENST00000348729.3	-	13	1524	c.1478T>C	c.(1477-1479)cTg>cCg	p.L493P	SLC23A1_ENST00000353963.3_Missense_Mutation_p.L497P	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	493					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CAGCACAATCAGAATCTGATC	0.527																																																0													137.0	117.0	124.0					5																	138713162		2203	4300	6503	SO:0001583	missense	9963			AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"""Solute carriers"""	10974	protein-coding gene	gene with protein product		603790	"""solute carrier family 23 (nucleobase transporters), member 2"""	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.1478T>C	5.37:g.138713162A>G	ENSP00000302701:p.Leu493Pro		O95191|Q8WWB6|Q9UGH4|Q9UI39	Missense_Mutation	SNP	ENST00000348729.3	37	CCDS4212.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480627	0.84747	.	.	ENSG00000170482	ENST00000353963;ENST00000348729;ENST00000339881	T;T	0.23754	1.89;1.9	5.23	5.23	0.72850	.	0.074680	0.56097	D	0.000028	T	0.54095	0.1837	M	0.84156	2.68	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72338	0.977;0.959	T	0.61312	-0.7088	10	0.87932	D	0	-10.0798	14.9471	0.71042	1.0:0.0:0.0:0.0	.	493;497	Q9UHI7;Q9UHI7-2	S23A1_HUMAN;.	P	497;493;154	ENSP00000302851:L497P;ENSP00000302701:L493P	ENSP00000343584:L154P	L	-	2	0	SLC23A1	138741061	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.263000	0.78421	2.194000	0.70268	0.533000	0.62120	CTG		0.527	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		23	28	23	28
ARID1B	57492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	157495231	157495231	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr6:157495231C>T	ENST00000350026.5	+	10	3077	c.3076C>T	c.(3076-3078)Cag>Tag	p.Q1026*	ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q968*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1026*|ARID1B_ENST00000346085.5_Nonsense_Mutation_p.Q1039*|ARID1B_ENST00000478761.2_3'UTR	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1026					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGGCACTCCACAGCCCGAGAG	0.522																																																0													121.0	104.0	110.0					6																	157495231		2203	4296	6499	SO:0001587	stop_gained	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3076C>T	6.37:g.157495231C>T	ENSP00000055163:p.Gln1026*		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	37	6.225375	0.97390	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	.	.	.	6.06	6.06	0.98353	.	0.529718	0.21329	N	0.076327	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	.	.	.	X	1039;1026;1026;968;443;495;448;93	.	ENSP00000275248:Q968X	Q	+	1	0	ARID1B	157536923	0.999000	0.42202	0.776000	0.31678	0.990000	0.78478	5.356000	0.66052	2.871000	0.98454	0.655000	0.94253	CAG		0.522	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		9	64	9	64
COL15A1	1306	broad.mit.edu;ucsc.edu	37	9	101832036	101832036	+	Silent	SNP	G	G	A			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr9:101832036G>A	ENST00000375001.3	+	42	4458	c.4035G>A	c.(4033-4035)gcG>gcA	p.A1345A		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1345	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGCGAACCGCGGACACAGCGG	0.537																																																0													105.0	102.0	103.0					9																	101832036		2203	4300	6503	SO:0001819	synonymous_variant	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.4035G>A	9.37:g.101832036G>A			Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	CCDS35081.1																																																																																				0.537	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		68	123	68	123
ASCC1	51008	broad.mit.edu;hgsc.bcm.edu	37	10	73970535	73970535	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr10:73970535delG	ENST00000342444.4	-	3	268	c.167delC	c.(166-168)ccafs	p.P56fs	ASCC1_ENST00000545550.1_Frame_Shift_Del_p.P78fs|ASCC1_ENST00000394915.3_Frame_Shift_Del_p.P56fs|ASCC1_ENST00000317126.4_Frame_Shift_Del_p.P56fs|ASCC1_ENST00000394919.1_Frame_Shift_Del_p.P56fs|ASCC1_ENST00000317168.6_Frame_Shift_Del_p.P56fs|ASCC1_ENST00000492502.2_5'UTR	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	56					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|transcription factor complex (GO:0005667)	catalytic activity (GO:0003824)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						GAATCCTTGTGGGGTCTGCTC	0.527																																																0													94.0	82.0	86.0					10																	73970535		2203	4300	6503	SO:0001589	frameshift_variant	51008			AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303			24268	protein-coding gene	gene with protein product		614215				10810093, 12077347	Standard	NM_001198799		Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.167delC	10.37:g.73970535delG	ENSP00000339404:p.Pro56fs		Q5SW06|Q5SW07|Q96EI8|Q9Y307	Frame_Shift_Del	DEL	ENST00000342444.4	37	CCDS55713.1																																																																																				0.527	ASCC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048573.2	NM_015947		18	45	18	45
CIC	23152	broad.mit.edu	37	19	42792001	42792001	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr19:42792001T>C	ENST00000575354.2	+	6	845	c.805T>C	c.(805-807)Tgg>Cgg	p.W269R	CIC_ENST00000160740.3_Missense_Mutation_p.W269R|CIC_ENST00000572681.2_Missense_Mutation_p.W1178R	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	269					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGATTGGAAGTGGTGCAACAA	0.632			"""Mis, F, S"""		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	0													35.0	32.0	33.0					19																	42792001		2202	4300	6502	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.805T>C	19.37:g.42792001T>C	ENSP00000458663:p.Trp269Arg		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.860043	0.51482	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.59	4.59	0.56863	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (2);	.	.	.	.	T	0.74726	0.3754	M	0.64404	1.975	0.58432	D	0.999994	D	0.69078	0.997	D	0.77557	0.99	T	0.77550	-0.2546	8	0.87932	D	0	-7.989	11.9874	0.53155	0.0:0.0:0.0:1.0	.	269	Q96RK0	CIC_HUMAN	R	269	.	ENSP00000160740:W269R	W	+	1	0	CIC	47483841	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.392000	0.73213	1.937000	0.56155	0.454000	0.30748	TGG		0.632	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			6	4	6	4
