#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
STX12	23673	broad.mit.edu	37	1	28148801	28148801	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr1:28148801C>G	ENST00000373943.4	+	9	917	c.792C>G	c.(790-792)atC>atG	p.I264M	RNU6-1245P_ENST00000411130.1_RNA|RP3-426I6.6_ENST00000602843.1_RNA	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	264					cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		TTATTCTAATCTTGGGACTTA	0.403																																					Ovarian(5;5 342 2097 9488 34083)	Ovarian(5;5 342 2097 9488 34083)	uc001bou.3		NA																	0				breast(1)|central_nervous_system(1)	2						c.(790-792)ATC>ATG		syntaxin 12							168.0	160.0	163.0					1																	28148801		2203	4300	6503	SO:0001583	missense	23673				cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity	g.chr1:28148801C>G	BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758			11430	protein-coding gene	gene with protein product		606892				9507000	Standard	NM_177424		Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.792C>G	1.37:g.28148801C>G	ENSP00000363054:p.Ile264Met						p.I264M	NM_177424	NP_803173	Q86Y82	STX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)	9	917	+		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	264			Helical; Anchor for type IV membrane protein; (Potential).		B1AJQ7|O95564	Missense_Mutation	SNP	ENST00000373943.4	37	c.792C>G	CCDS310.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032757	0.54790	.	.	ENSG00000117758	ENST00000373943	T	0.39787	1.06	5.6	5.6	0.85130	.	0.245485	0.45126	D	0.000386	T	0.54255	0.1847	M	0.81942	2.565	0.41474	D	0.988129	B	0.22909	0.077	B	0.31686	0.134	T	0.56980	-0.7889	10	0.72032	D	0.01	-8.9309	19.6137	0.95619	0.0:1.0:0.0:0.0	.	264	Q86Y82	STX12_HUMAN	M	264	ENSP00000363054:I264M	ENSP00000363054:I264M	I	+	3	3	STX12	28021388	1.000000	0.71417	0.918000	0.36340	0.877000	0.50540	1.896000	0.39789	2.650000	0.89964	0.557000	0.71058	ATC		0.403	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010519.1	NM_177424		13	45	0	0	0	0.013537	0	13	45				
PGM1	5236	broad.mit.edu	37	1	64097453	64097453	+	Splice_Site	SNP	G	G	A			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr1:64097453G>A	ENST00000371084.3	+	4	895	c.682G>A	c.(682-684)Gtt>Att	p.V228I	PGM1_ENST00000371083.4_Splice_Site_p.V246I|PGM1_ENST00000540265.1_Splice_Site_p.V31I	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	228					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TATGCATGGAGGTATACAATC	0.408																																							uc001dbh.2		NA																	0				ovary(2)|kidney(1)	3						c.(682-684)GTT>ATT		phosphoglucomutase 1							175.0	151.0	159.0					1																	64097453		2203	4300	6503	SO:0001630	splice_region_variant	5236				cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	g.chr1:64097453G>A	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.682+1G>A	1.37:g.64097453G>A						PGM1_uc010ooy.1_Missense_Mutation_p.V31I|PGM1_uc010ooz.1_Missense_Mutation_p.V246I	p.V228I	NM_002633	NP_002624	P36871	PGM1_HUMAN			4	895	+			228					B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	ENST00000371084.3	37	c.682G>A	CCDS625.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871052	0.91587	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	T;T;T	0.68331	-0.32;-0.32;-0.32	5.75	5.75	0.90469	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (1);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.000000	0.85682	D	0.000000	T	0.78978	0.4369	M	0.79926	2.475	0.54753	D	0.999987	B;D	0.53619	0.421;0.961	B;P	0.59825	0.242;0.864	T	0.78406	-0.2216	10	0.52906	T	0.07	0.8017	20.327	0.98704	0.0:0.0:1.0:0.0	.	246;228	P36871-2;P36871	.;PGM1_HUMAN	I	204;228;31;246	ENSP00000360125:V228I;ENSP00000443449:V31I;ENSP00000360124:V246I	ENSP00000360124:V246I	V	+	1	0	PGM1	63870041	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.823000	0.99369	2.885000	0.99019	0.655000	0.94253	GTT		0.408	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633	Missense_Mutation	3	51	0	0	0	0.004672	0	3	51				
NBPF10	100132406	broad.mit.edu	37	1	145359169	145359169	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr1:145359169T>A	ENST00000342960.5	+	72	9144	c.9109T>A	c.(9109-9111)Ttg>Atg	p.L3037M	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	595						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L3037M(7)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCGTGTTGGCTTGGCTGTTGA	0.458																																							uc001end.3		NA																	7	Substitution - Missense(7)		endometrium(2)|kidney(2)|prostate(1)|NS(1)|lung(1)		0						c.(9334-9336)TTG>ATG		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145359169T>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9109T>A	1.37:g.145359169T>A	ENSP00000345684:p.Leu3037Met					NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oyq.1_Intron|NBPF10_uc010oyr.1_Intron	p.L3112M	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	74	9369	+	all_hematologic(923;0.032)		3037					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.9334T>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.875	-0.730814	0.03135	.	.	ENSG00000163386	ENST00000342960	T	0.08807	3.05	.	.	.	.	.	.	.	.	T	0.03959	0.0111	M	0.67953	2.075	0.09310	N	1	.	.	.	.	.	.	T	0.42932	-0.9422	5	0.15952	T	0.53	.	.	.	.	.	.	.	.	M	3037	ENSP00000345684:L3037M	ENSP00000345684:L3037M	L	+	1	2	NBPF10	144070526	0.004000	0.15560	0.009000	0.14445	0.015000	0.08874	0.960000	0.29253	0.386000	0.24997	0.128000	0.15822	TTG		0.458	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	279	0	0	0	0.001168	0	6	279				
KIF11	3832	broad.mit.edu	37	10	94368781	94368781	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr10:94368781C>T	ENST00000260731.3	+	5	482	c.392C>T	c.(391-393)cCc>cTc	p.P131L		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	131	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTTCAGGATCCCTTGGCTGGT	0.328																																					Colon(47;212 1003 2764 4062 8431)	Colon(47;212 1003 2764 4062 8431)	uc001kic.2		NA																	0				skin(1)	1						c.(391-393)CCC>CTC		kinesin family member 11							43.0	46.0	45.0					10																	94368781		2201	4299	6500	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94368781C>T	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.392C>T	10.37:g.94368781C>T	ENSP00000260731:p.Pro131Leu					KIF11_uc010qnq.1_Intron	p.P131L	NM_004523	NP_004514	P52732	KIF11_HUMAN			5	700	+			131			Kinesin-motor.		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.392C>T	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904865	0.92035	.	.	ENSG00000138160	ENST00000260731	D	0.86097	-2.07	5.54	5.54	0.83059	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.92499	0.7618	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92480	0.5992	10	0.72032	D	0.01	.	19.6745	0.95926	0.0:1.0:0.0:0.0	.	131	P52732	KIF11_HUMAN	L	131	ENSP00000260731:P131L	ENSP00000260731:P131L	P	+	2	0	KIF11	94358761	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.746000	0.68681	2.880000	0.98712	0.650000	0.86243	CCC		0.328	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		8	12	0	0	0	0.00308	0	8	12				
PNLIPRP1	5407	broad.mit.edu	37	10	118360598	118360598	+	Silent	SNP	G	G	A	rs368268520		TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr10:118360598G>A	ENST00000528052.1	+	10	1019	c.948G>A	c.(946-948)ccG>ccA	p.P316P	PNLIPRP1_ENST00000534537.1_Silent_p.P316P|PNLIPRP1_ENST00000358834.4_Silent_p.P316P			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	316					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AGTGCTTCCCGTGTCCAGATC	0.448																																							uc001lco.1		NA																	0				ovary(1)|breast(1)	2						c.(946-948)CCG>CCA		pancreatic lipase-related protein 1 precursor		A		1,4405	2.1+/-5.4	0,1,2202	140.0	127.0	131.0		948	0.7	1.0	10		131	0,8600		0,0,4300	no	coding-synonymous	PNLIPRP1	NM_006229.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		316/468	118360598	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118360598G>A	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.948G>A	10.37:g.118360598G>A						PNLIPRP1_uc001lcp.2_Silent_p.P316P	p.P316P	NM_006229	NP_006220	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	10	966	+			316					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Silent	SNP	ENST00000528052.1	37	c.948G>A	CCDS7595.1																																																																																				0.448	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		16	40	0	0	0	0.007413	0	16	40				
DPF2	5977	broad.mit.edu	37	11	65116348	65116348	+	Missense_Mutation	SNP	G	G	A	rs373186765		TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr11:65116348G>A	ENST00000528416.1	+	10	1178	c.1045G>A	c.(1045-1047)Gat>Aat	p.D349N	DPF2_ENST00000252268.4_Missense_Mutation_p.D363N|DPF2_ENST00000415073.2_Missense_Mutation_p.D165N	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	349					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TGATGACTGCGATCGTGGCTA	0.488																																							uc001odm.2		NA																	0				ovary(1)	1						c.(1045-1047)GAT>AAT		D4, zinc and double PHD fingers family 2		G	ASN/ASP	0,4402		0,0,2201	223.0	179.0	194.0		1045	5.7	1.0	11		194	1,8593	1.2+/-3.3	0,1,4296	no	missense	DPF2	NM_006268.4	23	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	349/392	65116348	1,12995	2201	4297	6498	SO:0001583	missense	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65116348G>A	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.1045G>A	11.37:g.65116348G>A	ENSP00000436901:p.Asp349Asn					DPF2_uc001odn.2_Missense_Mutation_p.D363N|DPF2_uc010roe.1_Missense_Mutation_p.D165N	p.D349N	NM_006268	NP_006259	Q92785	REQU_HUMAN			10	1057	+			349			PHD-type 2.		A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	37	c.1045G>A	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	G	36	5.713300	0.96830	0.0	1.16E-4	ENSG00000133884	ENST00000528416;ENST00000415073;ENST00000252268;ENST00000531989	D;D;D;D	0.87650	-2.28;-1.78;-2.28;-1.78	5.7	5.7	0.88788	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.38778	N	0.001566	D	0.93507	0.7928	M	0.77313	2.365	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.989;0.998	D	0.93889	0.7178	10	0.87932	D	0	-24.2419	17.3282	0.87255	0.0:0.0:1.0:0.0	.	165;349	B4DT58;Q92785	.;REQU_HUMAN	N	349;165;363;74	ENSP00000436901:D349N;ENSP00000399714:D165N;ENSP00000252268:D363N;ENSP00000435887:D74N	ENSP00000252268:D363N	D	+	1	0	DPF2	64872924	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.676000	0.98643	2.696000	0.92011	0.561000	0.74099	GAT		0.488	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		10	42	0	0	0	0.006214	0	10	42				
EFEMP2	30008	broad.mit.edu	37	11	65636001	65636001	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr11:65636001A>G	ENST00000307998.6	-	8	1057	c.827T>C	c.(826-828)cTg>cCg	p.L276P	EFEMP2_ENST00000532648.1_5'Flank|EFEMP2_ENST00000528176.1_Missense_Mutation_p.L276P	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	276	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GCGTGTGGCCAGCAGCTGGTA	0.627																																							uc001ofy.3		NA																	0				ovary(1)	1						c.(826-828)CTG>CCG		EGF-containing fibulin-like extracellular matrix							73.0	64.0	67.0					11																	65636001		2201	4296	6497	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65636001A>G	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.827T>C	11.37:g.65636001A>G	ENSP00000309953:p.Leu276Pro					EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.L276P	p.L276P	NM_016938	NP_058634	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	8	1021	-			276			EGF-like 5; calcium-binding (Potential).		A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.827T>C	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	A	18.41	3.616869	0.66672	.	.	ENSG00000172638	ENST00000528176;ENST00000307998	T;D	0.87571	-1.18;-2.27	5.19	5.19	0.71726	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.194880	0.24937	N	0.034419	D	0.86331	0.5907	N	0.13235	0.315	0.80722	D	1	D;D	0.76494	0.999;0.96	D;P	0.75020	0.985;0.827	D	0.84968	0.0881	10	0.27785	T	0.31	.	12.9839	0.58581	1.0:0.0:0.0:0.0	.	276;276	E9PRU1;O95967	.;FBLN4_HUMAN	P	276	ENSP00000434151:L276P;ENSP00000309953:L276P	ENSP00000309953:L276P	L	-	2	0	EFEMP2	65392577	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.413000	0.44618	1.959000	0.56917	0.374000	0.22700	CTG		0.627	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		5	33	0	0	0	0.004482	0	5	33				
PRB1	5542	broad.mit.edu	37	12	11506399	11506399	+	Intron	SNP	T	T	C	rs111543911	byFrequency	TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr12:11506399T>C	ENST00000500254.2	-	4	351				PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGAGGAGATTGGGAACTTCG	0.612													N|||	1192	0.238019	0.1808	0.1816	5008	,	,		11447	0.3393		0.1759	False		,,,				2504	0.3149						uc001qzw.1		NA																	0					0						c.(637-639)CAA>CGA		proline-rich protein BstNI subfamily 1 isoform 1							11.0	7.0	9.0					12																	11506399		1009	1967	2976	SO:0001627	intron_variant	5542					extracellular region		g.chr12:11506399T>C		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.314-75A>G	12.37:g.11506399T>C						PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	p.Q213R	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		4	675	-			274	Q -> R (in Ref. 5; CAA30395).	Missing (in clone CP-4).|Missing (in clone CP-5).	11.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	c.638A>G	CCDS8642.1																																																																																				0.612	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		5	38	0	0	0	0.006214	0	5	38				
ELMSAN1	91748	broad.mit.edu	37	14	74203721	74203721	+	Missense_Mutation	SNP	C	C	T	rs150626971		TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr14:74203721C>T	ENST00000286523.5	-	3	2511	c.1729G>A	c.(1729-1731)Ggg>Agg	p.G577R	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.G577R	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	577					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GCATCTGTCCCGGGGATTCGG	0.607																																							uc001xot.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1729-1731)GGG>AGG		hypothetical protein LOC91748		C	ARG/GLY,ARG/GLY	0,4406		0,0,2203	62.0	56.0	58.0		1729,1729	4.0	0.2	14	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C14orf43	NM_001043318.1,NM_194278.3	125,125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	577/1046,577/1046	74203721	1,13005	2203	4300	6503	SO:0001583	missense	91748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:74203721C>T	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1729G>A	14.37:g.74203721C>T	ENSP00000286523:p.Gly577Arg					C14orf43_uc001xou.2_Missense_Mutation_p.G577R|C14orf43_uc010tud.1_Missense_Mutation_p.G577R|C14orf43_uc010arw.2_RNA	p.G577R	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)	3	2512	-			577					Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	c.1729G>A	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	C	5.935	0.356464	0.11239	0.0	1.16E-4	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	4.94	3.98	0.46160	.	0.696024	0.13957	N	0.351122	T	0.05273	0.0140	N	0.14661	0.345	0.09310	N	1	P;D	0.55385	0.905;0.971	B;B	0.36378	0.148;0.223	T	0.18241	-1.0343	10	0.18276	T	0.48	-17.4099	4.1321	0.10154	0.2304:0.6355:0.0:0.1341	.	577;577	A0PJD3;Q6PJG2	.;CN043_HUMAN	R	577	ENSP00000377634:G577R;ENSP00000286523:G577R;ENSP00000407767:G577R;ENSP00000402380:G577R	ENSP00000286523:G577R	G	-	1	0	C14orf43	73273474	0.496000	0.26059	0.243000	0.24186	0.008000	0.06430	2.129000	0.42055	2.732000	0.93576	0.655000	0.94253	GGG		0.607	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		4	41	0	0	0	0.014758	0	4	41				
ALDH6A1	4329	broad.mit.edu	37	14	74551056	74551056	+	Silent	SNP	G	G	A			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr14:74551056G>A	ENST00000553458.1	-	1	140	c.42C>T	c.(40-42)atC>atT	p.I14I	LIN52_ENST00000555028.1_5'Flank|ALDH6A1_ENST00000350259.4_Silent_p.I14I|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000556852.1_5'UTR	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	14					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		TCGCCTGCAGGATCCGGGCTC	0.667																																							uc001xpo.2		NA																	0					0						c.(40-42)ATC>ATT		aldehyde dehydrogenase 6A1 precursor	NADH(DB00157)						25.0	24.0	24.0					14																	74551056		2201	4300	6501	SO:0001819	synonymous_variant	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74551056G>A	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.42C>T	14.37:g.74551056G>A						LIN52_uc001xpp.2_5'Flank|LIN52_uc010asb.2_5'Flank|ALDH6A1_uc010asa.2_5'UTR|ALDH6A1_uc010tuq.1_Silent_p.I14I	p.I14I	NM_005589	NP_005580	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	1	141	-			14					B2R609|B4DFS8|J3KNU8|Q9UKM8	Silent	SNP	ENST00000553458.1	37	c.42C>T	CCDS9826.1																																																																																				0.667	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			4	36	0	0	0	0.009096	0	4	36				
C15orf52	388115	broad.mit.edu	37	15	40628778	40628778	+	Missense_Mutation	SNP	C	C	T	rs370895955		TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr15:40628778C>T	ENST00000559313.1	-	9	1031	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	C15orf52_ENST00000397536.2_Missense_Mutation_p.R129Q	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	339							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTGTTACCTTCGGGCCCTGCC	0.652																																							uc001zlh.3		NA																	0				large_intestine(1)	1						c.(1015-1017)CGA>CAA		hypothetical protein LOC388115		C	GLN/ARG	0,4406		0,0,2203	89.0	84.0	86.0		1016	5.5	1.0	15		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	C15orf52	NM_207380.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	339/535	40628778	1,13005	2203	4300	6503	SO:0001583	missense	388115							g.chr15:40628778C>T	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.1016G>A	15.37:g.40628778C>T	ENSP00000453969:p.Arg339Gln					C15orf52_uc001zli.1_3'UTR|C15orf52_uc010ucn.1_Missense_Mutation_p.R129Q	p.R339Q	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	9	1032	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	339					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	ENST00000559313.1	37	c.1016G>A	CCDS10055.2	.	.	.	.	.	.	.	.	.	.	C	34	5.339046	0.95783	0.0	1.16E-4	ENSG00000188549	ENST00000382688;ENST00000397536	T	0.45668	0.89	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000015	T	0.63379	0.2506	M	0.71581	2.175	0.44234	D	0.997078	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.62909	-0.6754	10	0.46703	T	0.11	.	14.9467	0.71039	0.0:1.0:0.0:0.0	.	129;339	Q6ZUT6-2;Q6ZUT6	.;CO052_HUMAN	Q	339;129	ENSP00000380670:R129Q	ENSP00000372135:R339Q	R	-	2	0	C15orf52	38416070	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.823000	0.48081	2.609000	0.88269	0.462000	0.41574	CGA		0.652	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		7	53	0	0	0	0.00308	0	7	53				
TEKT3	64518	broad.mit.edu	37	17	15234676	15234676	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr17:15234676G>A	ENST00000395930.1	-	3	413	c.227C>T	c.(226-228)tCc>tTc	p.S76F	TEKT3_ENST00000338696.2_Missense_Mutation_p.S76F	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	76					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GGTATTCTCGGACACCCTCTG	0.502																																							uc002gon.2		NA																	0				ovary(2)	2						c.(226-228)TCC>TTC		tektin 3							184.0	168.0	173.0					17																	15234676		2203	4300	6503	SO:0001583	missense	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15234676G>A	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.227C>T	17.37:g.15234676G>A	ENSP00000379263:p.Ser76Phe						p.S76F	NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	3	414	-			76					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	c.227C>T	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	G	4.327	0.060055	0.08339	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000536146;ENST00000539316;ENST00000543896	T;T;T;T;T	0.49139	4.04;4.04;1.43;1.46;0.79	5.4	1.59	0.23543	.	0.929466	0.09362	N	0.812649	T	0.44993	0.1320	L	0.50333	1.59	0.09310	N	1	B	0.23377	0.084	B	0.23852	0.049	T	0.42766	-0.9432	10	0.56958	D	0.05	1.9655	12.8639	0.57928	0.0:0.5253:0.3604:0.1144	.	76	Q9BXF9	TEKT3_HUMAN	F	76	ENSP00000379263:S76F;ENSP00000343995:S76F;ENSP00000446111:S76F;ENSP00000439713:S76F;ENSP00000444180:S76F	ENSP00000343995:S76F	S	-	2	0	TEKT3	15175401	0.000000	0.05858	0.178000	0.23040	0.767000	0.43475	0.199000	0.17237	0.121000	0.18284	0.655000	0.94253	TCC		0.502	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		5	72	0	0	0	0.014758	0	5	72				
SSTR2	6752	broad.mit.edu	37	17	71165803	71165803	+	Silent	SNP	C	C	T			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr17:71165803C>T	ENST00000357585.2	+	2	714	c.345C>T	c.(343-345)tgC>tgT	p.C115C	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Silent_p.C115C	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	115					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	AGGCCATTTGCCGGGTGGTCA	0.562																																							uc002jje.2		NA																	0					0						c.(343-345)TGC>TGT		somatostatin receptor 2							108.0	94.0	99.0					17																	71165803		2203	4300	6503	SO:0001819	synonymous_variant	6752				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	g.chr17:71165803C>T		CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"""GPCR / Class A : Somatostatin receptors"""	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.345C>T	17.37:g.71165803C>T							p.C115C	NM_001050	NP_001041	P30874	SSR2_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	705	+			115			Extracellular (Potential).		A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Silent	SNP	ENST00000357585.2	37	c.345C>T	CCDS11691.1																																																																																				0.562	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			9	39	0	0	0	0.004482	0	9	39				
EMILIN2	84034	broad.mit.edu	37	18	2891825	2891825	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr18:2891825C>T	ENST00000254528.3	+	4	1859	c.1700C>T	c.(1699-1701)gCc>gTc	p.A567V		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	567					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ATGGAAGGTGCCTTGCCAAAC	0.493																																							uc002kln.2		NA																	0				skin(2)|ovary(1)	3						c.(1699-1701)GCC>GTC		elastin microfibril interfacer 2 precursor							75.0	69.0	71.0					18																	2891825		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2891825C>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1700C>T	18.37:g.2891825C>T	ENSP00000254528:p.Ala567Val						p.A567V	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	1859	+			567					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.1700C>T	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	7.642	0.681013	0.14907	.	.	ENSG00000132205	ENST00000254528	T	0.34275	1.37	5.08	3.26	0.37387	.	1.021630	0.07786	N	0.954142	T	0.25754	0.0627	L	0.41236	1.265	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.31024	-0.9958	10	0.16420	T	0.52	-0.1099	3.3595	0.07181	0.4281:0.4116:0.0:0.1602	.	567	Q9BXX0	EMIL2_HUMAN	V	567	ENSP00000254528:A567V	ENSP00000254528:A567V	A	+	2	0	EMILIN2	2881825	0.001000	0.12720	0.006000	0.13384	0.099000	0.18886	0.633000	0.24598	1.116000	0.41820	0.563000	0.77884	GCC		0.493	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		5	45	0	0	0	0.014758	0	5	45				
PSG8	440533	broad.mit.edu	37	19	43268115	43268115	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr19:43268115C>T	ENST00000306511.4	-	2	480	c.383G>A	c.(382-384)gGt>gAt	p.G128D	PSG8_ENST00000401467.2_Missense_Mutation_p.G128D|PSG8_ENST00000404209.4_Missense_Mutation_p.G128D|PSG8_ENST00000406636.3_Intron	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	128	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATTCTCATCACCTCCCATTAT	0.468																																							uc002ouo.2		NA																	0					0						c.(382-384)GGT>GAT		pregnancy specific beta-1-glycoprotein 8 isoform							354.0	340.0	345.0					19																	43268115		2203	4299	6502	SO:0001583	missense	440533					extracellular region		g.chr19:43268115C>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.383G>A	19.37:g.43268115C>T	ENSP00000305005:p.Gly128Asp					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Intron|PSG8_uc002ouh.2_Missense_Mutation_p.G128D|PSG8_uc010ein.2_Intron|PSG8_uc002ouj.3_Missense_Mutation_p.G3D|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Missense_Mutation_p.G128D|PSG8_uc002oum.3_Missense_Mutation_p.G128D|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.G128D	p.G128D	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			2	481	-		Prostate(69;0.00899)	128			Ig-like V-type.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.383G>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.572191	0.00133	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.01538	4.79;4.79;4.79	1.35	-2.7	0.06004	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01421	0.0046	L	0.31157	0.91	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.0;0.001;0.001	B;B;B;B;B	0.19666	0.008;0.015;0.007;0.015;0.026	T	0.46317	-0.9200	9	0.48119	T	0.1	.	2.0949	0.03666	0.4594:0.1957:0.0:0.3449	.	128;128;128;128;128	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	D	128;3;128;128;128	ENSP00000385869:G128D;ENSP00000386090:G128D;ENSP00000305005:G128D	ENSP00000292109:G3D	G	-	2	0	PSG8	47959955	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.069000	0.01381	-1.498000	0.01824	0.184000	0.17185	GGT		0.468	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			22	224	0	0	0	0.014323	0	22	224				
PSG4	5672	broad.mit.edu	37	19	43699308	43699308	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr19:43699308T>C	ENST00000405312.3	-	4	1064	c.827A>G	c.(826-828)aAt>aGt	p.N276S	PSG4_ENST00000433626.2_Missense_Mutation_p.N183S|PSG4_ENST00000244295.9_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	276	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GCTCTGACCATTTAGCCACCA	0.433																																							uc002ovy.2		NA																	0				ovary(1)	1						c.(826-828)AAT>AGT		pregnancy specific beta-1-glycoprotein 4 isoform							226.0	232.0	230.0					19																	43699308		2202	4291	6493	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43699308T>C		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.827A>G	19.37:g.43699308T>C	ENSP00000384770:p.Asn276Ser					PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Missense_Mutation_p.N183S|PSG4_uc002ovz.2_Intron	p.N276S	NM_002780	NP_002771	Q00888	PSG4_HUMAN			4	929	-		Prostate(69;0.00682)	276			Ig-like C2-type 2.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.827A>G	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	t	8.311	0.822175	0.16678	.	.	ENSG00000243137	ENST00000405312;ENST00000433626	T;T	0.11712	2.75;2.75	1.61	0.51	0.16983	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22820	0.0551	M	0.87900	2.915	0.09310	N	1	P;B	0.36647	0.563;0.128	P;B	0.48227	0.571;0.194	T	0.21518	-1.0243	9	0.48119	T	0.1	.	3.4347	0.07441	0.0:0.243:0.0:0.757	.	183;276	E7EX79;Q00888	.;PSG4_HUMAN	S	276;183	ENSP00000384770:N276S;ENSP00000387864:N183S	ENSP00000384770:N276S	N	-	2	0	PSG4	48391148	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	0.239000	0.18023	-0.060000	0.13132	-0.441000	0.05720	AAT		0.433	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		10	165	0	0	0	0.01892	0	10	165				
DAW1	164781	broad.mit.edu	37	2	228762934	228762934	+	Silent	SNP	T	T	C			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr2:228762934T>C	ENST00000309931.2	+	6	560	c.477T>C	c.(475-477)tgT>tgC	p.C159C	DAW1_ENST00000373666.2_Silent_p.C159C|DAW1_ENST00000545118.1_Silent_p.C144C	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	159						cilium (GO:0005929)											ATAAAACTTGTAAACTCTGGA	0.289																																							uc002vpn.1		NA																	0				breast(1)	1						c.(475-477)TGT>TGC		WD repeat domain 69							44.0	46.0	45.0					2																	228762934		2203	4299	6502	SO:0001819	synonymous_variant	164781							g.chr2:228762934T>C		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.477T>C	2.37:g.228762934T>C						WDR69_uc010zlw.1_Silent_p.C144C|WDR69_uc002vpo.1_RNA	p.C159C	NM_178821	NP_849143	Q8N136	WDR69_HUMAN		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)	6	556	+		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	159			WD 2.		Q6ZRY1|Q8N776	Silent	SNP	ENST00000309931.2	37	c.477T>C	CCDS2470.1																																																																																				0.289	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		5	25	0	0	0	0.001168	0	5	25				
FAM83C	128876	broad.mit.edu	37	20	33874757	33874757	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr20:33874757G>T	ENST00000374408.3	-	4	1921	c.1825C>A	c.(1825-1827)Ccc>Acc	p.P609T	EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374436.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	609										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GTTTCAAGGGGCACTCTGGAA	0.622																																							uc010zux.1		NA																	0				ovary(2)	2						c.(1825-1827)CCC>ACC		hypothetical protein LOC128876							64.0	64.0	64.0					20																	33874757		2203	4300	6503	SO:0001583	missense	128876							g.chr20:33874757G>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1825C>A	20.37:g.33874757G>T	ENSP00000363529:p.Pro609Thr					EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.P264T	p.P609T	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1943	-			609					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.1825C>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	2.377	-0.343054	0.05243	.	.	ENSG00000125998	ENST00000374408	T	0.06687	3.27	4.66	1.61	0.23674	.	0.208991	0.24176	N	0.040855	T	0.09949	0.0244	M	0.67700	2.07	0.09310	N	1	B	0.30793	0.295	B	0.30029	0.11	T	0.15435	-1.0437	10	0.46703	T	0.11	-31.5622	8.6628	0.34103	0.3328:0.0:0.6672:0.0	.	609	Q9BQN1	FA83C_HUMAN	T	609	ENSP00000363529:P609T	ENSP00000363529:P609T	P	-	1	0	FAM83C	33338171	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	0.045000	0.14013	0.272000	0.22027	-0.258000	0.10820	CCC		0.622	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			15	32	1	0	9.16793e-09	0.00499	2.3394e-08	15	32				
SRGAP3	9901	broad.mit.edu	37	3	9036109	9036109	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr3:9036109G>A	ENST00000383836.3	-	19	2753	c.2326C>T	c.(2326-2328)Cgc>Tgc	p.R776C	SRGAP3_ENST00000360413.3_Missense_Mutation_p.R752C	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	776	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCGAGGCGCGGTGGTACAGG	0.587			T	RAF1	pilocytic astrocytoma																																		uc003brf.1		NA		Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(4)	0				central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9						c.(2326-2328)CGC>TGC		SLIT-ROBO Rho GTPase activating protein 3							77.0	77.0	77.0					3																	9036109		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9036109G>A	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2326C>T	3.37:g.9036109G>A	ENSP00000373347:p.Arg776Cys					SRGAP3_uc003brg.1_Missense_Mutation_p.R752C	p.R776C	NM_014850	NP_055665	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	19	3002	-			776			SH3.		Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.2326C>T	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622954	0.87460	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.51817	0.69;0.69	4.95	4.95	0.65309	Src homology-3 domain (4);	0.117842	0.56097	D	0.000040	T	0.72087	0.3417	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.984	T	0.77387	-0.2607	10	0.87932	D	0	.	18.1343	0.89612	0.0:0.0:1.0:0.0	.	752;776	O43295-2;O43295	.;SRGP2_HUMAN	C	776;752	ENSP00000373347:R776C;ENSP00000353587:R752C	ENSP00000353587:R752C	R	-	1	0	SRGAP3	9011109	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	4.292000	0.59031	2.433000	0.82419	0.650000	0.86243	CGC		0.587	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			10	55	0	0	0	0.006214	0	10	55				
SLC22A13	9390	broad.mit.edu	37	3	38307442	38307442	+	Silent	SNP	C	C	T			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr3:38307442C>T	ENST00000311856.4	+	1	140	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	SLC22A13_ENST00000450935.2_5'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	31					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)	p.L31M(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TCTCAACTTCCTGTCTCCCTT	0.498																																							uc003chz.3		NA																	1	Substitution - Missense(1)		kidney(1)	skin(1)	1						c.(91-93)CTG>TTG		solute carrier family 22 (organic anion							223.0	185.0	198.0					3																	38307442		2203	4300	6503	SO:0001819	synonymous_variant	9390					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38307442C>T	AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.91C>T	3.37:g.38307442C>T						SLC22A13_uc011aym.1_RNA|SLC22A13_uc011ayn.1_Silent_p.L31L	p.L31L	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)	1	145	+			31			Helical; (Potential).		B2RCV9|Q8IYG1	Silent	SNP	ENST00000311856.4	37	c.91C>T	CCDS2676.1																																																																																				0.498	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256		7	34	0	0	0	0.001984	0	7	34				
PRDM9	56979	broad.mit.edu	37	5	23527795	23527795	+	Silent	SNP	G	G	A			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr5:23527795G>A	ENST00000296682.3	+	11	2780	c.2598G>A	c.(2596-2598)ggG>ggA	p.G866G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	866					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGAGTGTGGGCGGGGCTTTA	0.562										HNSCC(3;0.000094)																													uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(2596-2598)GGG>GGA		PR domain containing 9							68.0	76.0	73.0					5																	23527795		2180	4297	6477	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527795G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2598G>A	5.37:g.23527795G>A		HNSCC(3;0.000094)					p.G866G	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2780	+			866			C2H2-type 14.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.2598G>A	CCDS43307.1																																																																																				0.562	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		17	88	0	0	0	0.008871	0	17	88				
HAPLN1	1404	broad.mit.edu	37	5	82937403	82937403	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr5:82937403C>T	ENST00000274341.4	-	5	1827	c.977G>A	c.(976-978)aGt>aAt	p.S326N		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	326	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	CTCAGTAGGACTGCAGCGCCT	0.537																																							uc003kim.2		NA																	0				large_intestine(3)|ovary(1)|skin(1)	5						c.(976-978)AGT>AAT		hyaluronan and proteoglycan link protein 1							110.0	116.0	114.0					5																	82937403		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82937403C>T		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.977G>A	5.37:g.82937403C>T	ENSP00000274341:p.Ser326Asn					HAPLN1_uc003kin.2_Missense_Mutation_p.S326N	p.S326N	NM_001884	NP_001875	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	4	1048	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	326			Link 2.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.977G>A	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735697	0.49045	.	.	ENSG00000145681	ENST00000274341	T	0.30448	1.53	5.22	4.35	0.52113	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	L	0.34521	1.04	0.80722	D	1	D	0.55800	0.973	P	0.62298	0.9	T	0.37731	-0.9693	10	0.87932	D	0	.	13.9622	0.64188	0.0:0.927:0.0:0.073	.	326	P10915	HPLN1_HUMAN	N	326	ENSP00000274341:S326N	ENSP00000274341:S326N	S	-	2	0	HAPLN1	82973159	1.000000	0.71417	0.969000	0.41365	0.191000	0.23601	7.772000	0.85439	1.326000	0.45319	0.655000	0.94253	AGT		0.537	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		34	105	0	0	0	0.010818	0	34	105				
DNAH8	1769	broad.mit.edu	37	6	38998146	38998146	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr6:38998146C>A	ENST00000359357.3	+	91	13705	c.13451C>A	c.(13450-13452)gCc>gAc	p.A4484D	DNAH8_ENST00000441566.1_Missense_Mutation_p.A4448D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4484					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAGGAGTGGCCCTTTTGTGT	0.478																																							uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(13450-13452)GCC>GAC		dynein, axonemal, heavy polypeptide 8							97.0	84.0	88.0					6																	38998146		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38998146C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.13451C>A	6.37:g.38998146C>A	ENSP00000352312:p.Ala4484Asp						p.A4484D	NM_001371	NP_001362					91	14051	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.13451C>A		.	.	.	.	.	.	.	.	.	.	C	31	5.085360	0.94100	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.15952	2.38;2.38;2.38	5.15	5.15	0.70609	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	H	0.99642	4.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81042	-0.1112	10	0.72032	D	0.01	.	18.6417	0.91398	0.0:1.0:0.0:0.0	.	4484	Q96JB1	DYH8_HUMAN	D	4689;4484;4448	ENSP00000333363:A4689D;ENSP00000352312:A4484D;ENSP00000402294:A4448D	ENSP00000333363:A4689D	A	+	2	0	DNAH8	39106124	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.628000	0.83189	2.397000	0.81536	0.650000	0.86243	GCC		0.478	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		4	42	1	0	1.024e-07	0.014758	2.52587e-07	4	42				
SLC22A1	6580	broad.mit.edu	37	6	160575836	160575836	+	Silent	SNP	C	C	T	rs536418062	byFrequency	TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr6:160575836C>T	ENST00000366963.4	+	9	1539	c.1392C>T	c.(1390-1392)ctC>ctT	p.L464L	SLC22A1_ENST00000457470.2_Intron|SLC22A1_ENST00000324965.4_Intron	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	464					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	TCAGGAACCTCGGAGTGATGG	0.438													C|||	2	0.000399361	0.0008	0.0	5008	,	,		22831	0.001		0.0	False		,,,				2504	0.0						uc003qtc.2		NA																	0					0						c.(1390-1392)CTC>CTT		solute carrier family 22 member 1 isoform a							171.0	149.0	156.0					6																	160575836		2203	4300	6503	SO:0001819	synonymous_variant	6580					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding	g.chr6:160575836C>T	U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"""Solute carriers"""	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.1392C>T	6.37:g.160575836C>T						SLC22A1_uc003qtd.2_Intron	p.L464L	NM_003057	NP_003048	O15245	S22A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	9	1497	+		Breast(66;0.000776)|Ovarian(120;0.00556)	464			Cytoplasmic (Potential).		A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Silent	SNP	ENST00000366963.4	37	c.1392C>T	CCDS5274.1																																																																																				0.438	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042938.2			6	21	0	0	0	0.001168	0	6	21				
CYP3A4	1576	broad.mit.edu	37	7	99359829	99359829	+	Missense_Mutation	SNP	G	G	A	rs67784355	byFrequency	TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr7:99359829G>A	ENST00000336411.2	-	11	1271	c.1088C>T	c.(1087-1089)aCg>aTg	p.T363M	CYP3A4_ENST00000354593.2_Missense_Mutation_p.T213M	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	363			T -> M (in allele CYP3A4*11; unstable form; dbSNP:rs67784355). {ECO:0000269|PubMed:11470997}.		alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	TAATCTGAGCGTTTCATTCAC	0.418													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20480	0.0		0.001	False		,,,				2504	0.0						uc003urv.1		NA																	0				central_nervous_system(3)|ovary(1)	4	GRCh37	CM015322	CYP3A4	M	rs67784355	c.(1087-1089)ACG>ATG		cytochrome P450, family 3, subfamily A,	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	G	MET/THR,MET/THR	0,4406		0,0,2203	168.0	147.0	154.0		1085,1088	-1.3	0.1	7	dbSNP_130	154	6,8594	3.7+/-12.6	0,6,4294	yes	missense,missense	CYP3A4	NM_001202855.2,NM_017460.5	81,81	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	probably-damaging,probably-damaging	362/503,363/504	99359829	6,13000	2203	4300	6503	SO:0001583	missense	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99359829G>A	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.1088C>T	7.37:g.99359829G>A	ENSP00000337915:p.Thr363Met					CYP3A4_uc003urw.1_Missense_Mutation_p.T362M|CYP3A4_uc011kiz.1_Missense_Mutation_p.T322M|CYP3A4_uc011kja.1_Missense_Mutation_p.T314M|CYP3A4_uc011kjb.1_Missense_Mutation_p.T213M	p.T363M	NM_017460	NP_059488	P08684	CP3A4_HUMAN			11	1192	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		363		T -> M (in allele CYP3A4*11; unstable form).			P05184|Q16757|Q9UK50	Missense_Mutation	SNP	ENST00000336411.2	37	c.1088C>T	CCDS5674.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	11.84	1.758271	0.31137	0.0	6.98E-4	ENSG00000160868	ENST00000354593;ENST00000336411	T;T	0.72167	-0.63;-0.63	4.35	-1.34	0.09143	.	0.344706	0.33916	N	0.004434	D	0.87091	0.6091	H	0.99090	4.425	0.09310	N	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.997;0.997;0.997;0.997	T	0.75425	-0.3322	10	0.87932	D	0	.	4.4244	0.11497	0.2559:0.0:0.4776:0.2665	.	213;290;363;363;363	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	M	213;363	ENSP00000346607:T213M;ENSP00000337915:T363M	ENSP00000337915:T363M	T	-	2	0	CYP3A4	99197765	0.000000	0.05858	0.114000	0.21550	0.170000	0.22686	0.415000	0.21181	-0.016000	0.14127	0.561000	0.74099	ACG		0.418	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1			6	37	0	0	0	0.001168	0	6	37				
ACER2	340485	broad.mit.edu	37	9	19424785	19424785	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr9:19424785C>T	ENST00000340967.2	+	3	337	c.311C>T	c.(310-312)gCt>gTt	p.A104V	ACER2_ENST00000380376.1_Missense_Mutation_p.A55V	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	104					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to drug (GO:0035690)|ceramide metabolic process (GO:0006672)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of protein glycosylation in Golgi (GO:0090285)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						CTGATGTGTGCTTTGGCCATG	0.438																																							uc003zny.1		NA																	0				haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(310-312)GCT>GTT		alkaline ceramidase 2							230.0	185.0	200.0					9																	19424785		2203	4300	6503	SO:0001583	missense	340485				ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity	g.chr9:19424785C>T	AK123581	CCDS34992.1	9p21.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000177076	ENSG00000177076	3.5.1.23	"""Alkaline ceramidase"""	23675	protein-coding gene	gene with protein product		613492	"""N-acylsphingosine amidohydrolase 3-like"""	ASAH3L		18945876	Standard	XM_005251447		Approved	FLJ41587	uc003zny.1	Q5QJU3	OTTHUMG00000019644	ENST00000340967.2:c.311C>T	9.37:g.19424785C>T	ENSP00000342609:p.Ala104Val					ACER2_uc003znx.1_RNA|ACER2_uc003znz.1_Missense_Mutation_p.A55V	p.A104V	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN			3	469	+			104			Helical; (Potential).		A2A3R8|Q569G5|Q5VZR7|Q71RD2	Missense_Mutation	SNP	ENST00000340967.2	37	c.311C>T	CCDS34992.1	.	.	.	.	.	.	.	.	.	.	C	34	5.372485	0.95923	.	.	ENSG00000177076	ENST00000380376;ENST00000340967	T;T	0.41400	1.0;1.0	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	L	0.58428	1.81	0.80722	D	1	D	0.71674	0.998	D	0.70716	0.97	T	0.57808	-0.7747	9	.	.	.	.	19.7205	0.96142	0.0:1.0:0.0:0.0	.	104	Q5QJU3	ACER2_HUMAN	V	55;104	ENSP00000369735:A55V;ENSP00000342609:A104V	.	A	+	2	0	ACER2	19414785	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.794000	0.85869	2.671000	0.90904	0.462000	0.41574	GCT		0.438	ACER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051864.1	XM_294540		9	52	0	0	0	0.004482	0	9	52				
SETD2	29072	broad.mit.edu	37	3	47125651	47125651	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr3:47125651delG	ENST00000409792.3	-	12	5661	c.5619delC	c.(5617-5619)cccfs	p.P1873fs	SETD2_ENST00000492397.1_5'Flank	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1873					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTAGTTTCTTGGGAGTGTCTG	0.453			"""N, F, S, Mis"""		clear cell renal carcinoma																																		uc003cqs.2		NA		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		0		p.L1873fs*50(1)		kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(5617-5619)CCCfs		SET domain containing 2							150.0	144.0	146.0					3																	47125651		2203	4300	6503	SO:0001589	frameshift_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47125651delG	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5619delC	3.37:g.47125651delG	ENSP00000386759:p.Pro1873fs					SETD2_uc003cqv.2_Frame_Shift_Del_p.P1940fs|SETD2_uc003cqt.1_RNA	p.P1873fs	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	12	5672	-		Acute lymphoblastic leukemia(5;0.0169)	1873					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	c.5619delC	CCDS2749.2																																																																																				0.453	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		12	73	NA	NA	NA	NA	NA	12	73	---	---	---	---
SETD2	29072	broad.mit.edu	37	3	47155477	47155478	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	TT	TT	-	-	TT	TT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr3:47155477_47155478delTT	ENST00000409792.3	-	5	4645_4646	c.4603_4604delAA	c.(4603-4605)aatfs	p.N1535fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1535	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATAATCCCCATTTGGACACCGA	0.376			"""N, F, S, Mis"""		clear cell renal carcinoma																																		uc003cqs.2		NA		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		0				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(4603-4605)AATfs		SET domain containing 2																																				SO:0001589	frameshift_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47155477_47155478delTT	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4603_4604delAA	3.37:g.47155477_47155478delTT	ENSP00000386759:p.Asn1535fs					SETD2_uc003cqv.2_Frame_Shift_Del_p.N1524fs	p.N1535fs	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	5	4656_4657	-		Acute lymphoblastic leukemia(5;0.0169)	1535			AWS.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	c.4603_4604delAA	CCDS2749.2																																																																																				0.376	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		11	68	NA	NA	NA	NA	NA	11	68	---	---	---	---
MED23	9439	broad.mit.edu	37	6	131919786	131919787	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-6986-01A-11D-1945-08	TCGA-55-6986-11A-01D-1945-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a7f3c88-ef02-4e97-8009-5622245b6a09	2d60408f-5a74-4cd1-a27e-168d1d3379e6	g.chr6:131919786_131919787insG	ENST00000368068.3	-	19	2514_2515	c.2335_2336insC	c.(2335-2337)cacfs	p.H779fs	MED23_ENST00000368053.4_Frame_Shift_Ins_p.H785fs|MED23_ENST00000368058.1_Frame_Shift_Ins_p.H785fs|MED23_ENST00000545957.1_Frame_Shift_Ins_p.H420fs|MED23_ENST00000540546.1_Frame_Shift_Ins_p.H785fs|MED23_ENST00000368060.3_Frame_Shift_Ins_p.H779fs|MED23_ENST00000479213.1_5'Flank|MED23_ENST00000354577.4_Frame_Shift_Ins_p.H785fs|MED23_ENST00000403834.3_Frame_Shift_Ins_p.H785fs	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	779					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CATAGAGAAGTGGGTAATAATG	0.396																																							uc003qcs.1		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(2335-2337)CACfs		mediator complex subunit 23 isoform a																																				SO:0001589	frameshift_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131919786_131919787insG	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2336dupC	6.37:g.131919789_131919789dupG	ENSP00000357047:p.His779fs					MED23_uc003qcq.2_Frame_Shift_Ins_p.H785fs|MED23_uc011eca.1_Frame_Shift_Ins_p.H420fs|MED23_uc003qct.1_Frame_Shift_Ins_p.H785fs	p.H779fs	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	19	2509_2510	-	Breast(56;0.0753)		779					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Frame_Shift_Ins	INS	ENST00000368068.3	37	c.2335_2336insC	CCDS5147.1																																																																																				0.396	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			7	26	NA	NA	NA	NA	NA	7	26	---	---	---	---
