#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_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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DVL1	1855	broad.mit.edu	37	1	1273937	1273937	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr1:1273937A>C	ENST00000378888.5	-	12	1588	c.1304T>G	c.(1303-1305)aTg>aGg	p.M435R	DVL1_ENST00000378891.5_Missense_Mutation_p.M410R			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	435	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTTGAGCCACATGCGGTCGCG	0.672																																						uc001aer.3		NA																	0					0						c.(1228-1230)ATG>AGG		dishevelled 1							57.0	55.0	56.0					1																	1273937		2202	4296	6498	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1273937A>C	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1304T>G	1.37:g.1273937A>C	ENSP00000368166:p.Met435Arg					DVL1_uc002quu.2_Missense_Mutation_p.M152R|DVL1_uc009vka.2_Missense_Mutation_p.M93R|DVL1_uc001aeu.1_Missense_Mutation_p.M169R	p.M410R	NM_004421	NP_004412	O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	12	1276	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	435			DEP.		Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.1229T>G		.	.	.	.	.	.	.	.	.	.	A	15.51	2.855384	0.51376	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000263743	T;T	0.15372	2.43;2.43	3.82	3.82	0.43975	DEP domain (6);Winged helix-turn-helix transcription repressor DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	L	0.49350	1.555	0.80722	D	1	D;D;P;D	0.64830	0.994;0.971;0.922;0.975	D;D;P;P	0.70227	0.968;0.929;0.841;0.883	T	0.06698	-1.0812	10	0.59425	D	0.04	.	13.101	0.59219	1.0:0.0:0.0:0.0	.	93;435;410;410	G3XA93;O14640;P54792;O14640-2	.;DVL1_HUMAN;DVL1L_HUMAN;.	R	410;435;93	ENSP00000368169:M410R;ENSP00000368166:M435R	ENSP00000263743:M93R	M	-	2	0	DVL1	1263800	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.023000	0.93683	1.738000	0.51689	0.369000	0.22263	ATG		0.672	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		10	41	0	0	0	0	10	41				
DNAJC11	55735	broad.mit.edu	37	1	6699997	6699997	+	Silent	SNP	C	C	G			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr1:6699997C>G	ENST00000377577.5	-	11	1341	c.1218G>C	c.(1216-1218)ctG>ctC	p.L406L	DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000377573.5_Silent_p.L316L|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_Intron|DNAJC11_ENST00000542246.1_Silent_p.L368L	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	406						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTGATGATCAGACGGTGCA	0.522																																						uc001aof.2		NA																	0				ovary(1)|skin(1)	2						c.(1216-1218)CTG>CTC		DnaJ (Hsp40) homolog, subfamily C, member 11							97.0	88.0	91.0					1																	6699997		2203	4300	6503	SO:0001819	synonymous_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6699997C>G	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1218G>C	1.37:g.6699997C>G						DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Intron|DNAJC11_uc010nzu.1_Silent_p.L316L	p.L406L	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	11	1324	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	406					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP	ENST00000377577.5	37	c.1218G>C	CCDS87.1																																																																																				0.522	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		6	27	0	0	0	0	6	27				
UBIAD1	29914	broad.mit.edu	37	1	11345928	11345928	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr1:11345928G>A	ENST00000376810.5	+	2	1083	c.757G>A	c.(757-759)Ggc>Agc	p.G253S	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	253					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		CATCCTCATCGGCCCCACGTT	0.607																																						uc001asg.2		NA																	0					0						c.(757-759)GGC>AGC		UbiA prenyltransferase domain containing 1							210.0	134.0	160.0					1																	11345928		2203	4300	6503	SO:0001583	missense	29914				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity	g.chr1:11345928G>A		CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"""transitional epithelia response protein"""	611632	"""Schnyder crystalline corneal dystrophy"""	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.757G>A	1.37:g.11345928G>A	ENSP00000366006:p.Gly253Ser						p.G253S	NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)	2	1091	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	253			Helical; (Potential).		B3KQG3|Q53GX3|Q5THD4	Missense_Mutation	SNP	ENST00000376810.5	37	c.757G>A	CCDS129.1	.	.	.	.	.	.	.	.	.	.	G	35	5.566126	0.96540	.	.	ENSG00000120942	ENST00000376810	D	0.95272	-3.66	5.94	5.94	0.96194	.	0.099774	0.64402	D	0.000002	D	0.97888	0.9306	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98256	1.0496	10	0.87932	D	0	2.5561	19.3475	0.94370	0.0:0.0:1.0:0.0	.	253	Q9Y5Z9	UBIA1_HUMAN	S	253	ENSP00000366006:G253S	ENSP00000366006:G253S	G	+	1	0	UBIAD1	11268515	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.434000	0.97515	2.807000	0.96579	0.591000	0.81541	GGC		0.607	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319		13	93	0	0	0	0	13	93				
HSPG2	3339	broad.mit.edu	37	1	22169810	22169810	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr1:22169810G>A	ENST00000374695.3	-	66	8817	c.8738C>T	c.(8737-8739)tCc>tTc	p.S2913F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2913	Ig-like C2-type 14.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TCCTGGGCTGGAGGGCTCAAT	0.632																																						uc001bfj.2		NA																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(8737-8739)TCC>TTC		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						66.0	59.0	61.0					1																	22169810		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22169810G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8738C>T	1.37:g.22169810G>A	ENSP00000363827:p.Ser2913Phe					HSPG2_uc009vqd.2_Missense_Mutation_p.S2914F	p.S2913F	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	66	8778	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2913			Ig-like C2-type 14.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.8738C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204086	0.38905	.	.	ENSG00000142798	ENST00000374695	T	0.78246	-1.16	4.82	3.84	0.44239	.	0.676009	0.11942	N	0.514545	T	0.81711	0.4880	M	0.89715	3.055	0.09310	N	1	B;B	0.33318	0.217;0.408	B;B	0.38296	0.27;0.11	T	0.75789	-0.3194	10	0.56958	D	0.05	.	7.4606	0.27294	0.0:0.1817:0.6307:0.1876	.	853;2913	Q59EG0;P98160	.;PGBM_HUMAN	F	2913	ENSP00000363827:S2913F	ENSP00000363827:S2913F	S	-	2	0	HSPG2	22042397	0.712000	0.27916	0.038000	0.18304	0.880000	0.50808	2.862000	0.48388	2.211000	0.71520	0.462000	0.41574	TCC		0.632	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		10	46	0	0	0	0	10	46				
CDC7	8317	broad.mit.edu	37	1	91978847	91978847	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr1:91978847C>A	ENST00000428239.1	+	7	1064	c.805C>A	c.(805-807)Caa>Aaa	p.Q269K	CDC7_ENST00000234626.6_Missense_Mutation_p.Q269K|CDC7_ENST00000430031.2_Missense_Mutation_p.Q241K	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	269	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		TCAGATTAAACAAGGAAAAGA	0.403																																						uc001doe.2		NA																	0				stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	5						c.(805-807)CAA>AAA		cell division cycle 7							76.0	80.0	79.0					1																	91978847		2203	4300	6503	SO:0001583	missense	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91978847C>A	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.805C>A	1.37:g.91978847C>A	ENSP00000393139:p.Gln269Lys					CDC7_uc001dof.2_Missense_Mutation_p.Q269K|CDC7_uc010osw.1_Missense_Mutation_p.Q241K|CDC7_uc009wdc.2_Missense_Mutation_p.Q269K|CDC7_uc009wdd.2_5'Flank	p.Q269K	NM_003503	NP_003494	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	7	970	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	269			Protein kinase.		D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	c.805C>A	CCDS734.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638926	0.29157	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239	T;T;T	0.45668	0.89;1.05;1.05	5.89	5.89	0.94794	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.275432	0.39834	N	0.001256	T	0.16854	0.0405	L	0.35644	1.08	0.38745	D	0.953971	B;B	0.18013	0.025;0.025	B;B	0.16289	0.013;0.015	T	0.05920	-1.0856	10	0.16896	T	0.51	-10.527	11.5046	0.50459	0.1396:0.7258:0.1346:0.0	.	241;269	B7Z5H7;O00311	.;CDC7_HUMAN	K	241;269;269	ENSP00000407477:Q241K;ENSP00000234626:Q269K;ENSP00000393139:Q269K	ENSP00000234626:Q269K	Q	+	1	0	CDC7	91751435	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.211000	0.51137	2.782000	0.95742	0.557000	0.71058	CAA		0.403	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		4	29	1	0	1.24e-05	2.91e-05	4	29				
LAD1	3898	broad.mit.edu	37	1	201358343	201358343	+	Missense_Mutation	SNP	C	C	T	rs138881525		TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr1:201358343C>T	ENST00000391967.2	-	2	428	c.127G>A	c.(127-129)Gat>Aat	p.D43N	LAD1_ENST00000367313.3_Missense_Mutation_p.D57N	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	43						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GGAGCCTCATCGTCCGTGGTG	0.642																																						uc001gwm.2		NA																	0					0						c.(127-129)GAT>AAT		ladinin 1		C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	67.0	64.0	65.0		127	5.2	0.0	1	dbSNP_134	65	0,8600		0,0,4300	no	missense	LAD1	NM_005558.3	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	43/518	201358343	1,13005	2203	4300	6503	SO:0001583	missense	3898					basement membrane	structural molecule activity	g.chr1:201358343C>T	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.127G>A	1.37:g.201358343C>T	ENSP00000375829:p.Asp43Asn					LAD1_uc009wzu.1_Missense_Mutation_p.D65N	p.D43N	NM_005558	NP_005549	O00515	LAD1_HUMAN			2	362	-			43					O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	c.127G>A	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362636	0.82353	2.27E-4	0.0	ENSG00000159166	ENST00000391967;ENST00000367313	T;T	0.13420	2.61;2.59	5.17	5.17	0.71159	.	0.280154	0.32687	N	0.005775	T	0.33265	0.0857	M	0.62723	1.935	0.21290	N	0.99974	D;D	0.76494	0.999;0.999	D;P	0.68943	0.961;0.883	T	0.07309	-1.0779	10	0.72032	D	0.01	-18.5486	14.1607	0.65446	0.0:1.0:0.0:0.0	.	57;43	E9PDI4;O00515	.;LAD1_HUMAN	N	43;57	ENSP00000375829:D43N;ENSP00000356282:D57N	ENSP00000356282:D57N	D	-	1	0	LAD1	199624966	0.000000	0.05858	0.040000	0.18447	0.025000	0.11179	0.172000	0.16704	2.399000	0.81585	0.643000	0.83706	GAT		0.642	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		8	34	0	0	0	0	8	34				
FGF19	9965	broad.mit.edu	37	11	69518109	69518109	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr11:69518109C>T	ENST00000294312.3	-	2	1021	c.256G>A	c.(256-258)Gct>Act	p.A86T		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	86					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bile acid biosynthetic process (GO:0070858)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of JNK cascade (GO:0046330)	extracellular region (GO:0005576)	fibroblast growth factor receptor binding (GO:0005104)			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			GTCCGCAGAGCGACTGCCTTG	0.677																																						uc001opf.2		NA																	0				skin(1)	1						c.(256-258)GCT>ACT		fibroblast growth factor 19 precursor							29.0	24.0	26.0					11																	69518109		2198	4294	6492	SO:0001583	missense	9965				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade	extracellular region	fibroblast growth factor receptor binding|growth factor activity	g.chr11:69518109C>T	AB018122	CCDS8193.1	11q13.1	2008-02-01			ENSG00000162344	ENSG00000162344			3675	protein-coding gene	gene with protein product		603891				9931477, 10525310	Standard	NM_005117		Approved		uc001opf.3	O95750	OTTHUMG00000167886	ENST00000294312.3:c.256G>A	11.37:g.69518109C>T	ENSP00000294312:p.Ala86Thr						p.A86T	NM_005117	NP_005108	O95750	FGF19_HUMAN	Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		2	719	-	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		86						Missense_Mutation	SNP	ENST00000294312.3	37	c.256G>A	CCDS8193.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629068	0.46944	.	.	ENSG00000162344	ENST00000294312	D	0.85861	-2.04	3.97	3.97	0.46021	.	0.114768	0.56097	D	0.000023	D	0.87454	0.6181	M	0.71036	2.16	0.31117	N	0.709237	D	0.67145	0.996	P	0.53266	0.722	D	0.86602	0.1867	10	0.40728	T	0.16	-15.0781	11.7884	0.52055	0.1764:0.8236:0.0:0.0	.	86	O95750	FGF19_HUMAN	T	86	ENSP00000294312:A86T	ENSP00000294312:A86T	A	-	1	0	FGF19	69227290	0.998000	0.40836	0.100000	0.21137	0.251000	0.25915	3.857000	0.55972	1.786000	0.52430	0.462000	0.41574	GCT		0.677	FGF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396833.1	NM_005117		5	19	0	0	0	0	5	19				
CLPB	81570	broad.mit.edu	37	11	72145270	72145270	+	Silent	SNP	G	G	T	rs200845330		TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr11:72145270G>T	ENST00000294053.3	-	1	422	c.249C>A	c.(247-249)ctC>ctA	p.L83L	CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000437826.2_Missense_Mutation_p.R3S|CLPB_ENST00000538039.1_Silent_p.L83L|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000340729.5_Silent_p.L83L|CLPB_ENST00000542555.1_5'Flank	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	83					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGGCAGCCGCGAGGCATTTGG	0.692											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001osj.2		NA																	0				pancreas(1)	1						c.(247-249)CTC>CTA		caseinolytic peptidase B																																				SO:0001819	synonymous_variant	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72145270G>T	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.249C>A	11.37:g.72145270G>T			OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1135	CLPB_uc010rqx.1_Missense_Mutation_p.R3S|CLPB_uc010rqy.1_Silent_p.L83L|CLPB_uc001osk.2_Silent_p.L83L|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_5'UTR	p.L83L	NM_030813	NP_110440	Q9H078	CLPB_HUMAN			1	299	-			83					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Silent	SNP	ENST00000294053.3	37	c.249C>A	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	G	8.939	0.965344	0.18583	.	.	ENSG00000162129	ENST00000535990;ENST00000437826	T;T	0.28454	1.61;2.35	5.04	1.29	0.21616	.	.	.	.	.	T	0.21062	0.0507	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.15484	0.013	T	0.25363	-1.0134	8	0.87932	D	0	-0.2003	4.9463	0.13991	0.2593:0.208:0.5327:0.0	.	3	E7EWN6	.	S	53;3	ENSP00000443822:R53S;ENSP00000407296:R3S	ENSP00000407296:R3S	R	-	1	0	CLPB	71822918	0.001000	0.12720	0.001000	0.08648	0.032000	0.12392	-0.046000	0.11983	0.151000	0.19162	0.655000	0.94253	CGC		0.692	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		24	45	1	0	1.11e-09	2.73e-09	24	45				
SLCO2B1	11309	broad.mit.edu	37	11	74904300	74904300	+	Silent	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr11:74904300C>T	ENST00000289575.5	+	9	1508	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P	SLCO2B1_ENST00000428359.2_Silent_p.P349P|SLCO2B1_ENST00000532236.1_Silent_p.P255P|SLCO2B1_ENST00000525650.1_Silent_p.P227P|SLCO2B1_ENST00000454962.2_Silent_p.P144P|SLCO2B1_ENST00000341411.4_Silent_p.P144P|SLCO2B1_ENST00000531756.1_Silent_p.P116P	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	371					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	TACGCCACCCCATCTTCCTGC	0.627																																						uc001owb.2		NA																	0				ovary(1)|breast(1)	2						c.(1111-1113)CCC>CCT		solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)						87.0	80.0	82.0					11																	74904300		2200	4293	6493	SO:0001819	synonymous_variant	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74904300C>T	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1113C>T	11.37:g.74904300C>T						SLCO2B1_uc010rrq.1_Silent_p.P116P|SLCO2B1_uc010rrr.1_Silent_p.P227P|SLCO2B1_uc010rrs.1_Silent_p.P255P|SLCO2B1_uc001owc.2_Silent_p.P144P|SLCO2B1_uc001owd.2_Silent_p.P349P	p.P371P	NM_007256	NP_009187	O94956	SO2B1_HUMAN			9	1500	+			371			Helical; Name=7; (Potential).		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Silent	SNP	ENST00000289575.5	37	c.1113C>T	CCDS8235.1																																																																																				0.627	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		19	80	0	0	0	0	19	80				
GPRC5A	9052	broad.mit.edu	37	12	13061574	13061574	+	Silent	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr12:13061574C>T	ENST00000014914.5	+	2	1281	c.391C>T	c.(391-393)Ctg>Ttg	p.L131L	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	131					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GCCCCTTTCCCTGTTGGTGAT	0.522																																						uc001rba.2		NA																	0					0						c.(391-393)CTG>TTG		G protein-coupled receptor, family C, group 5,	Tretinoin(DB00755)						157.0	158.0	158.0					12																	13061574		2203	4300	6503	SO:0001819	synonymous_variant	9052					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity	g.chr12:13061574C>T	AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.391C>T	12.37:g.13061574C>T						GPRC5A_uc001raz.2_Silent_p.L131L	p.L131L	NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0708)	2	1041	+		Prostate(47;0.141)	131			Helical; Name=4; (Potential).		B3KV45|O95357	Silent	SNP	ENST00000014914.5	37	c.391C>T	CCDS8657.1																																																																																				0.522	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1			48	183	0	0	0	0	48	183				
OR10AD1	121275	broad.mit.edu	37	12	48596393	48596393	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr12:48596393C>T	ENST00000310248.2	-	1	777	c.683G>A	c.(682-684)aGc>aAc	p.S228N		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						GGAGGCTTTGCTGAGGATGGT	0.507																																						uc001rrl.1		NA																	0				ovary(1)	1						c.(682-684)AGC>AAC		olfactory receptor, family 10, subfamily AD,							84.0	75.0	78.0					12																	48596393		2203	4300	6503	SO:0001583	missense	121275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48596393C>T		CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"""GPCR / Class A : Olfactory receptors"""	14819	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily AD, member 1 pseudogene"""	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.683G>A	12.37:g.48596393C>T	ENSP00000308689:p.Ser228Asn						p.S228N	NM_001004134	NP_001004134	Q8NGE0	O10AD_HUMAN			1	683	-			228			Cytoplasmic (Potential).		B9EGT9|Q6IFA8	Missense_Mutation	SNP	ENST00000310248.2	37	c.683G>A	CCDS31787.1	.	.	.	.	.	.	.	.	.	.	C	5.311	0.242764	0.10077	.	.	ENSG00000172640	ENST00000310248	T	0.00091	8.74	4.61	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.583196	0.14405	N	0.321651	T	0.00109	0.0003	N	0.17723	0.515	0.09310	N	1	B	0.27625	0.183	B	0.28916	0.096	T	0.19160	-1.0314	10	0.87932	D	0	-3.0588	6.0925	0.20003	0.0:0.7066:0.0:0.2934	.	228	Q8NGE0	O10AD_HUMAN	N	228	ENSP00000308689:S228N	ENSP00000308689:S228N	S	-	2	0	OR10AD1	46882660	0.000000	0.05858	0.065000	0.19835	0.100000	0.18952	-0.140000	0.10342	1.273000	0.44346	0.561000	0.74099	AGC		0.507	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397577.1			7	41	0	0	0	0	7	41				
HOXC6	3223	broad.mit.edu	37	12	54422634	54422634	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr12:54422634G>T	ENST00000243108.4	+	1	493	c.329G>T	c.(328-330)aGg>aTg	p.R110M	RP11-834C11.14_ENST00000512206.1_RNA|HOXC6_ENST00000394331.3_Missense_Mutation_p.R28M|HOXC4_ENST00000303406.4_Intron|RP11-834C11.12_ENST00000513209.1_Intron	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	110					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GAGCAGGGCAGGACTGCGCCC	0.468																																						uc001sev.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(328-330)AGG>ATG		homeobox C6 isoform 1							112.0	113.0	113.0					12																	54422634		2203	4300	6503	SO:0001583	missense	3223				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:54422634G>T		CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"""Homeoboxes / ANTP class : HOXL subclass"""	5128	protein-coding gene	gene with protein product		142972	"""homeo box C6"""	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.329G>T	12.37:g.54422634G>T	ENSP00000243108:p.Arg110Met					HOXC6_uc001ses.2_Missense_Mutation_p.R28M|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron	p.R110M	NM_004503	NP_004494	P09630	HXC6_HUMAN			1	441	+			110					B2RBV2|Q6DK09	Missense_Mutation	SNP	ENST00000243108.4	37	c.329G>T	CCDS8871.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852526	0.71719	.	.	ENSG00000197757	ENST00000504315;ENST00000509328;ENST00000394331;ENST00000243108	D;D	0.92911	-3.13;-3.05	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.91821	0.7412	M	0.71581	2.175	0.80722	D	1	B	0.25955	0.138	B	0.25987	0.065	D	0.88666	0.3192	10	0.46703	T	0.11	.	18.6545	0.91445	0.0:0.0:1.0:0.0	.	110	P09630	HXC6_HUMAN	M	28;28;28;110	ENSP00000377864:R28M;ENSP00000243108:R110M	ENSP00000243108:R110M	R	+	2	0	HOXC6	52708901	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.226000	0.65299	2.941000	0.99782	0.655000	0.94253	AGG		0.468	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358943.2			10	110	1	0	2.74e-10	6.79e-10	10	110				
ACIN1	22985	broad.mit.edu	37	14	23532678	23532678	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr14:23532678A>T	ENST00000262710.1	-	13	3205	c.2878T>A	c.(2878-2880)Ttg>Atg	p.L960M	ACIN1_ENST00000555053.1_Missense_Mutation_p.L947M|ACIN1_ENST00000457657.1_Missense_Mutation_p.L920M|ACIN1_ENST00000357481.2_Missense_Mutation_p.L202M|ACIN1_ENST00000338631.6_Missense_Mutation_p.L233M|ACIN1_ENST00000557515.1_Missense_Mutation_p.L201M|ACIN1_ENST00000605057.1_Missense_Mutation_p.L902M|ACIN1_ENST00000397341.3_Missense_Mutation_p.L202M	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	960					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGTGGGGGCAAGGCCACCTCT	0.517																																						uc001wit.3		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2878-2880)TTG>ATG		apoptotic chromatin condensation inducer 1							94.0	81.0	86.0					14																	23532678		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23532678A>T	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2878T>A	14.37:g.23532678A>T	ENSP00000262710:p.Leu960Met					ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.L202M|ACIN1_uc001wiq.3_Missense_Mutation_p.L202M|ACIN1_uc001wir.3_Missense_Mutation_p.L233M|ACIN1_uc001wis.3_Missense_Mutation_p.L641M|ACIN1_uc010akg.2_Missense_Mutation_p.L947M	p.L960M	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	13	3206	-	all_cancers(95;1.36e-05)		960					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.2878T>A	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699085	0.68501	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053;ENST00000555566	T;T;T;T;T;T	0.16073	3.4;3.4;2.37;2.38;3.4;2.38	5.35	1.63	0.23807	.	0.392684	0.14631	N	0.307836	T	0.15522	0.0374	N	0.08118	0	0.28866	N	0.895213	D;D;D;D;D	0.71674	0.998;0.997;0.997;0.986;0.986	D;P;P;P;P	0.67548	0.952;0.852;0.852;0.633;0.534	T	0.09907	-1.0653	10	0.45353	T	0.12	-0.0101	3.4018	0.07327	0.5794:0.0:0.2588:0.1618	.	947;960;920;233;202	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	M	201;233;202;960;920;202;947;190	ENSP00000345541:L233M;ENSP00000350073:L202M;ENSP00000262710:L960M;ENSP00000405677:L920M;ENSP00000380502:L202M;ENSP00000451328:L947M	ENSP00000262710:L960M	L	-	1	2	ACIN1	22602518	0.425000	0.25498	0.998000	0.56505	0.999000	0.98932	0.339000	0.19875	0.123000	0.18342	0.533000	0.62120	TTG		0.517	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		18	44	0	0	0	0	18	44				
SLC7A8	23428	broad.mit.edu	37	14	23609754	23609754	+	Silent	SNP	G	G	A			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr14:23609754G>A	ENST00000316902.7	-	5	1439	c.714C>T	c.(712-714)ttC>ttT	p.F238F	SLC7A8_ENST00000469263.1_Silent_p.F238F|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000453702.1_Silent_p.F35F|SLC7A8_ENST00000529705.2_Silent_p.F133F|SLC7A8_ENST00000422941.2_Intron	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	238					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AGCCCTGAAGGAAAGCCAGTG	0.502																																						uc001wiz.2		NA																	0				ovary(1)	1						c.(712-714)TTC>TTT		solute carrier family 7 (cationic amino acid	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)						163.0	163.0	163.0					14																	23609754		2203	4300	6503	SO:0001819	synonymous_variant	23428				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	g.chr14:23609754G>A	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.714C>T	14.37:g.23609754G>A						SLC7A8_uc001wix.2_Silent_p.F35F|SLC7A8_uc010tnk.1_Intron|SLC7A8_uc010tnl.1_Silent_p.F133F|SLC7A8_uc001wiy.2_RNA|SLC7A8_uc010akj.2_Silent_p.F238F	p.F238F	NM_012244	NP_036376	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	5	1440	-	all_cancers(95;4.6e-05)		238			Helical; (Potential).		B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Silent	SNP	ENST00000316902.7	37	c.714C>T	CCDS9590.1																																																																																				0.502	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			13	164	0	0	0	0	13	164				
KCNH5	27133	broad.mit.edu	37	14	63468148	63468148	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr14:63468148C>T	ENST00000322893.7	-	4	602	c.334G>A	c.(334-336)Gca>Aca	p.A112T	KCNH5_ENST00000394968.1_Missense_Mutation_p.A54T|KCNH5_ENST00000420622.2_Missense_Mutation_p.A112T|KCNH5_ENST00000394964.2_Missense_Mutation_p.A54T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	112	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTTATTGGTGCAATTTGCATA	0.423																																						uc001xfx.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(334-336)GCA>ACA		potassium voltage-gated channel, subfamily H,							94.0	84.0	87.0					14																	63468148		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63468148C>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.334G>A	14.37:g.63468148C>T	ENSP00000321427:p.Ala112Thr					KCNH5_uc001xfy.2_Missense_Mutation_p.A112T|KCNH5_uc001xfz.1_Missense_Mutation_p.A54T|KCNH5_uc001xga.2_Missense_Mutation_p.A54T	p.A112T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	4	385	-			112			PAC.|Cytoplasmic (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.334G>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	35	5.483573	0.96307	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.99563	-6.17;-6.17;-6.17;-6.17	5.64	5.64	0.86602	PAS-associated, C-terminal (1);PAS (1);PAS fold (1);	0.000000	0.85682	D	0.000000	D	0.99486	0.9817	L	0.58302	1.8	0.80722	D	1	D;D;D;D	0.76494	0.986;0.996;0.996;0.999	D;D;P;D	0.75020	0.916;0.939;0.897;0.985	D	0.99129	1.0852	10	0.66056	D	0.02	.	19.706	0.96072	0.0:1.0:0.0:0.0	.	54;54;112;112	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	T	112;112;54;54	ENSP00000321427:A112T;ENSP00000395439:A112T;ENSP00000378419:A54T;ENSP00000378415:A54T	ENSP00000321427:A112T	A	-	1	0	KCNH5	62537901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.673000	0.90976	0.591000	0.81541	GCA		0.423	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		4	20	0	0	0	0	4	20				
EXD2	55218	broad.mit.edu	37	14	69701570	69701570	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr14:69701570C>G	ENST00000409018.3	+	5	999	c.871C>G	c.(871-873)Cca>Gca	p.P291A	EXD2_ENST00000449989.1_Missense_Mutation_p.P166A|EXD2_ENST00000312994.5_Missense_Mutation_p.P291A|EXD2_ENST00000409014.1_Missense_Mutation_p.P166A|EXD2_ENST00000409242.1_Missense_Mutation_p.P166A|EXD2_ENST00000409675.1_Missense_Mutation_p.P166A|EXD2_ENST00000409949.1_Missense_Mutation_p.P166A|EXD2_ENST00000492815.1_3'UTR	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	291							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GGTCGACATCCCATTTCGAAG	0.443																																						uc001xkt.2		NA																	0					0						c.(496-498)CCA>GCA		exonuclease 3'-5' domain containing 2							72.0	72.0	72.0					14																	69701570		2203	4300	6503	SO:0001583	missense	55218				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69701570C>G	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.871C>G	14.37:g.69701570C>G	ENSP00000387331:p.Pro291Ala					EXD2_uc001xku.2_Missense_Mutation_p.P36A|EXD2_uc001xkv.2_Missense_Mutation_p.P291A|EXD2_uc001xkw.2_Missense_Mutation_p.P166A|EXD2_uc010aqt.2_Missense_Mutation_p.P291A|EXD2_uc010tte.1_Missense_Mutation_p.P291A|EXD2_uc001xky.2_Missense_Mutation_p.P166A	p.P166A	NM_018199	NP_060669	Q9NVH0	EXD2_HUMAN			7	1155	+			166					B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	ENST00000409018.3	37	c.496C>G	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.748352	0.89663	.	.	ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	T;T;T;T;T;T;T	0.63417	0.34;-0.04;-0.04;-0.04;-0.04;0.34;-0.04	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.74756	0.3758	M	0.65975	2.015	0.80722	D	1	P;P;P	0.51057	0.941;0.902;0.902	P;P;B	0.56865	0.808;0.459;0.358	T	0.71919	-0.4447	10	0.35671	T	0.21	-9.7654	19.5784	0.95453	0.0:1.0:0.0:0.0	.	291;166;166	G5E947;B3KP95;Q9NVH0	.;.;EXD2_HUMAN	A	291;166;166;166;166;291;166	ENSP00000387331:P291A;ENSP00000386915:P166A;ENSP00000386762:P166A;ENSP00000386632:P166A;ENSP00000386839:P166A;ENSP00000313140:P291A;ENSP00000392177:P166A	ENSP00000313140:P291A	P	+	1	0	EXD2	68771323	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.124000	0.77185	2.706000	0.92434	0.650000	0.86243	CCA		0.443	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			9	45	0	0	0	0	9	45				
DMXL2	23312	broad.mit.edu	37	15	51741321	51741321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr15:51741321G>A	ENST00000251076.5	-	43	9258	c.8971C>T	c.(8971-8973)Cga>Tga	p.R2991*	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.R2355*|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.R2992*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2991						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.R2991*(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CCAATGTTTCGAAATATGGAC	0.438																																						uc002abf.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(6)|skin(3)	9						c.(8971-8973)CGA>TGA		Dmx-like 2							123.0	104.0	111.0					15																	51741321		2196	4293	6489	SO:0001587	stop_gained	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51741321G>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8971C>T	15.37:g.51741321G>A	ENSP00000251076:p.Arg2991*					DMXL2_uc002abd.2_Nonsense_Mutation_p.R1083*|DMXL2_uc010ufy.1_Nonsense_Mutation_p.R2992*|DMXL2_uc010bfa.2_Nonsense_Mutation_p.R2355*|DMXL2_uc002abc.2_RNA	p.R2991*	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	43	9196	-			2991					B2RTR3|B7ZMH3|F5GWF1|O94938	Nonsense_Mutation	SNP	ENST00000251076.5	37	c.8971C>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	46	12.693450	0.99689	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	.	.	.	5.6	-4.24	0.03777	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	23.6153	0.99984	0.0:0.0:0.8204:0.1796	.	.	.	.	X	2991;2992;2355;557	.	ENSP00000251076:R2991X	R	-	1	2	DMXL2	49528613	1.000000	0.71417	0.879000	0.34478	0.967000	0.64934	0.661000	0.25023	-0.472000	0.06881	-0.457000	0.05445	CGA		0.438	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		6	43	0	0	0	0	6	43				
SLC28A1	9154	broad.mit.edu	37	15	85488064	85488064	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr15:85488064G>C	ENST00000286749.3	+	17	1930	c.1840G>C	c.(1840-1842)Gag>Cag	p.E614Q	SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000538177.1_Missense_Mutation_p.E448Q|SLC28A1_ENST00000394573.1_Missense_Mutation_p.E614Q|SLC28A1_ENST00000537624.1_Missense_Mutation_p.E614Q			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	614					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CAGTAGCTTTGAGATTTACCA	0.592																																						uc002blg.2		NA																	0				skin(2)|ovary(1)	3						c.(1840-1842)GAG>CAG		solute carrier family 28, member 1 isoform 1							90.0	83.0	85.0					15																	85488064		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85488064G>C	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1840G>C	15.37:g.85488064G>C	ENSP00000286749:p.Glu614Gln					SLC28A1_uc010bnb.2_Missense_Mutation_p.E614Q|SLC28A1_uc010upe.1_Missense_Mutation_p.E448Q|SLC28A1_uc010upf.1_Missense_Mutation_p.E614Q|SLC28A1_uc010upg.1_Intron	p.E614Q	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		18	2042	+			614					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1840G>C	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	G	7.612	0.675028	0.14841	.	.	ENSG00000156222	ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.02944	4.1;4.6;4.59;4.59	4.61	4.61	0.57282	.	0.307974	0.35151	N	0.003412	T	0.06142	0.0159	M	0.64170	1.965	0.80722	D	1	B;P;B	0.52316	0.317;0.952;0.382	B;P;B	0.49140	0.124;0.601;0.064	T	0.16571	-1.0398	10	0.42905	T	0.14	-9.2815	8.5357	0.33362	0.1024:0.0:0.8976:0.0	.	614;448;614	F5H560;B7Z3L6;O00337	.;.;S28A1_HUMAN	Q	448;614;614;614	ENSP00000443752:E448Q;ENSP00000444700:E614Q;ENSP00000286749:E614Q;ENSP00000378074:E614Q	ENSP00000286749:E614Q	E	+	1	0	SLC28A1	83289068	0.011000	0.17503	1.000000	0.80357	0.010000	0.07245	0.586000	0.23894	2.378000	0.81104	0.561000	0.74099	GAG		0.592	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			14	48	0	0	0	0	14	48				
MYLK3	91807	broad.mit.edu	37	16	46766444	46766444	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr16:46766444G>A	ENST00000394809.4	-	4	1253	c.1138C>T	c.(1138-1140)Cgc>Tgc	p.R380C	MYLK3_ENST00000536476.1_Missense_Mutation_p.R39C	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	380					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGGAGGCAGCGCCCGGTCCCA	0.687																																						uc002eei.3		NA																	0				stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7						c.(1138-1140)CGC>TGC		myosin light chain kinase 3							16.0	18.0	17.0					16																	46766444		2201	4290	6491	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46766444G>A	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1138C>T	16.37:g.46766444G>A	ENSP00000378288:p.Arg380Cys					MYLK3_uc010vge.1_Missense_Mutation_p.R39C|MYLK3_uc002eej.1_Missense_Mutation_p.R39C	p.R380C	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			4	1254	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	380					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.1138C>T	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817126	0.32145	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.69040	-0.37;-0.35	5.26	-4.59	0.03400	.	.	.	.	.	T	0.35913	0.0948	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23190	-1.0195	9	0.42905	T	0.14	.	9.4685	0.38829	0.2377:0.1581:0.6041:0.0	.	380;380	B5BUL9;Q32MK0	.;MYLK3_HUMAN	C	380;39	ENSP00000378288:R380C;ENSP00000439297:R39C	ENSP00000378288:R380C	R	-	1	0	MYLK3	45323945	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.986000	0.03747	-0.495000	0.06659	-0.302000	0.09304	CGC		0.687	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		7	25	0	0	0	0	7	25				
TLDC1	57707	broad.mit.edu	37	16	84520478	84520478	+	Silent	SNP	G	G	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr16:84520478G>T	ENST00000343629.6	-	5	899	c.717C>A	c.(715-717)ggC>ggA	p.G239G	TLDC1_ENST00000535580.1_Silent_p.G212G|TLDC1_ENST00000561807.1_5'Flank	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	239						lysosomal membrane (GO:0005765)											CAAAACCCCTGCCCTGGTCCA	0.567																																						uc002fib.2		NA																	0				ovary(2)	2						c.(715-717)GGC>GGA		hypothetical protein LOC57707							47.0	44.0	45.0					16																	84520478		2200	4300	6500	SO:0001819	synonymous_variant	57707						protein binding	g.chr16:84520478G>T	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.717C>A	16.37:g.84520478G>T						KIAA1609_uc010vod.1_Silent_p.G212G|KIAA1609_uc002fic.2_RNA	p.G239G	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN			5	824	-			239					Q8IZ64|Q9HCG3|Q9NTE8	Silent	SNP	ENST00000343629.6	37	c.717C>A	CCDS32498.1																																																																																				0.567	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		9	32	1	0	0.000274275	0.000639975	9	32				
KIAA0100	9703	broad.mit.edu	37	17	26968962	26968962	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr17:26968962C>G	ENST00000528896.2	-	7	785	c.711G>C	c.(709-711)caG>caC	p.Q237H	KIAA0100_ENST00000389003.3_Missense_Mutation_p.Q94H|KIAA0100_ENST00000544884.1_Missense_Mutation_p.Q94H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	237						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCAGTTGGCTCTGGAAGAGGC	0.547																																						uc002hbu.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(709-711)CAG>CAC		hypothetical protein LOC9703 precursor							81.0	70.0	74.0					17																	26968962		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26968962C>G	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.711G>C	17.37:g.26968962C>G	ENSP00000436773:p.Gln237His					KIAA0100_uc002hbv.2_Missense_Mutation_p.Q237H|KIAA0100_uc010crr.1_Missense_Mutation_p.Q94H	p.Q237H	NM_014680	NP_055495	Q14667	K0100_HUMAN			7	810	-	Lung NSC(42;0.00431)		237					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.711G>C	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	8.518	0.868055	0.17250	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.21361	2.01;2.02	5.78	-0.291	0.12843	FMP27, N-terminal (1);	0.270973	0.43110	N	0.000616	T	0.05410	0.0143	N	0.01874	-0.695	0.20403	N	0.9999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.27502	-1.0072	10	0.26408	T	0.33	.	2.2182	0.03965	0.4033:0.1458:0.335:0.1158	.	94;237;237	Q14667-4;F6XS94;Q14667	.;.;K0100_HUMAN	H	237;237;237;94	ENSP00000436773:Q237H;ENSP00000446443:Q94H	ENSP00000005905:Q237H	Q	-	3	2	KIAA0100	23993089	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	1.152000	0.31663	-0.070000	0.12908	-0.119000	0.15052	CAG		0.547	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		15	63	0	0	0	0	15	63				
EVPL	2125	broad.mit.edu	37	17	74006565	74006565	+	Silent	SNP	A	A	G			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr17:74006565A>G	ENST00000301607.3	-	22	2974	c.2721T>C	c.(2719-2721)ccT>ccC	p.P907P	EVPL_ENST00000586740.1_Silent_p.P929P	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	907	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTGCTTGGGCAGGGCTCTCGG	0.642																																						uc002jqi.2		NA																	0				pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(2719-2721)CCT>CCC		envoplakin							30.0	31.0	30.0					17																	74006565		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74006565A>G	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2721T>C	17.37:g.74006565A>G						EVPL_uc010wss.1_Silent_p.P929P|EVPL_uc010wst.1_Silent_p.P377P	p.P907P	NM_001988	NP_001979	Q92817	EVPL_HUMAN			22	2949	-			907			Central fibrous rod domain.|Potential.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.2721T>C	CCDS11737.1																																																																																				0.642	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		10	34	0	0	0	0	10	34				
B3GNT3	10331	broad.mit.edu	37	19	17918902	17918902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr19:17918902C>T	ENST00000318683.6	+	2	433	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	B3GNT3_ENST00000595387.1_Nonsense_Mutation_p.Q96*	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	96					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TCCCCTGCTGCAGGACGTGCC	0.637																																						uc002nhk.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(286-288)CAG>TAG		UDP-GlcNAc:betaGal							40.0	33.0	35.0					19																	17918902		2203	4300	6503	SO:0001587	stop_gained	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17918902C>T	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.286C>T	19.37:g.17918902C>T	ENSP00000321874:p.Gln96*					B3GNT3_uc002nhl.1_Nonsense_Mutation_p.Q96*|B3GNT3_uc010ebd.1_Nonsense_Mutation_p.Q96*|B3GNT3_uc010ebe.1_Nonsense_Mutation_p.Q96*	p.Q96*	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN			2	371	+			96			Lumenal (Potential).		B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Nonsense_Mutation	SNP	ENST00000318683.6	37	c.286C>T	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.251206	0.59212	.	.	ENSG00000179913	ENST00000318683	.	.	.	3.72	3.72	0.42706	.	0.421225	0.22036	U	0.065527	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.6843	0.34227	0.2277:0.7723:0.0:0.0	.	.	.	.	X	96	.	ENSP00000321874:Q96X	Q	+	1	0	B3GNT3	17779902	0.147000	0.22687	0.106000	0.21319	0.049000	0.14656	1.860000	0.39428	1.643000	0.50594	0.472000	0.43445	CAG		0.637	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		4	27	0	0	0	0	4	27				
ZNF568	374900	broad.mit.edu	37	19	37440779	37440779	+	Nonsense_Mutation	SNP	C	C	T	rs565321465	byFrequency	TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr19:37440779C>T	ENST00000333987.7	+	7	1230	c.724C>T	c.(724-726)Cga>Tga	p.R242*	ZNF568_ENST00000415168.1_Nonsense_Mutation_p.R178*|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	242					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGACATGAGCGAATTCATGC	0.378													C|||	2	0.000399361	0.0	0.0	5008	,	,		20962	0.0		0.0	False		,,,				2504	0.002					uc002ofc.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(724-726)CGA>TGA		zinc finger protein 568							58.0	60.0	59.0					19																	37440779		2100	4260	6360	SO:0001587	stop_gained	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37440779C>T	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.724C>T	19.37:g.37440779C>T	ENSP00000334685:p.Arg242*					ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Nonsense_Mutation_p.R166*|ZNF568_uc010efe.2_Nonsense_Mutation_p.R166*|ZNF568_uc010eff.1_Intron	p.R242*	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		7	1239	+	Esophageal squamous(110;0.183)		242			C2H2-type 1.		B4DS92|E7ER33|Q6N060|Q8NA64	Nonsense_Mutation	SNP	ENST00000333987.7	37	c.724C>T	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	C	36	5.664843	0.96745	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	.	.	.	3.83	1.7	0.24286	.	0.190064	0.26075	N	0.026483	.	.	.	.	.	.	0.26320	N	0.977697	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5379	0.07800	0.5614:0.2167:0.222:0.0	.	.	.	.	X	242;178	.	ENSP00000334685:R242X	R	+	1	2	ZNF568	42132619	0.000000	0.05858	0.028000	0.17463	0.950000	0.60333	-0.139000	0.10358	0.181000	0.19994	-0.271000	0.10264	CGA		0.378	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		7	46	0	0	0	0	7	46				
TBC1D17	79735	broad.mit.edu	37	19	50385367	50385367	+	Silent	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr19:50385367C>T	ENST00000221543.5	+	6	896	c.597C>T	c.(595-597)caC>caT	p.H199H	TBC1D17_ENST00000535102.2_Silent_p.H166H	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	199					autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		ACTCCTTCCACCACCTGCAGC	0.647																																						uc002pqo.2		NA																	0					0						c.(595-597)CAC>CAT		TBC1 domain family, member 17							264.0	242.0	249.0					19																	50385367		2203	4300	6503	SO:0001819	synonymous_variant	79735					intracellular	Rab GTPase activator activity	g.chr19:50385367C>T	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.597C>T	19.37:g.50385367C>T						TBC1D17_uc010enn.1_RNA|TBC1D17_uc010ybg.1_Silent_p.H166H|TBC1D17_uc002pqp.2_5'UTR|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_5'UTR|TBC1D17_uc002pqs.2_5'Flank	p.H199H	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	6	749	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	199					B4DT12|B9A6L8|F5H1W7	Silent	SNP	ENST00000221543.5	37	c.597C>T	CCDS12785.1																																																																																				0.647	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		12	260	0	0	0	0	12	260				
SHANK1	50944	broad.mit.edu	37	19	51200915	51200915	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr19:51200915C>T	ENST00000293441.1	-	13	1886	c.1868G>A	c.(1867-1869)cGc>cAc	p.R623H	SHANK1_ENST00000391814.1_Missense_Mutation_p.R623H|SHANK1_ENST00000359082.3_Missense_Mutation_p.R623H	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	623					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTTGTCACTGCGGCTTTCTGC	0.547																																						uc002psx.1		NA																	0				large_intestine(2)	2						c.(1867-1869)CGC>CAC		SH3 and multiple ankyrin repeat domains 1							116.0	115.0	116.0					19																	51200915		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51200915C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1868G>A	19.37:g.51200915C>T	ENSP00000293441:p.Arg623His						p.R623H	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	13	1887	-		all_neural(266;0.057)	623					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.1868G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840241	0.51057	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.49432	0.88;0.92;0.78	3.19	3.19	0.36642	Src homology-3 domain (1);	0.000000	0.64402	U	0.000011	T	0.60856	0.2301	L	0.52905	1.665	0.49130	D	0.999756	D	0.89917	1.0	D	0.78314	0.991	T	0.64812	-0.6319	10	0.87932	D	0	-24.8006	11.7413	0.51794	0.0:1.0:0.0:0.0	.	623	Q9Y566	SHAN1_HUMAN	H	623	ENSP00000293441:R623H;ENSP00000351984:R623H;ENSP00000375690:R623H	ENSP00000293441:R623H	R	-	2	0	SHANK1	55892727	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	4.925000	0.63425	1.793000	0.52555	0.556000	0.70494	CGC		0.547	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		11	82	0	0	0	0	11	82				
ZNF17	7565	broad.mit.edu	37	19	57931031	57931031	+	Silent	SNP	G	G	A			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr19:57931031G>A	ENST00000601808.1	+	3	384	c.171G>A	c.(169-171)gaG>gaA	p.E57E	ZNF17_ENST00000595206.1_3'UTR|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Silent_p.E69E|ZNF17_ENST00000307658.7_Silent_p.E59E	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGGATGAGGAGGCACCTTCCA	0.493																																					Melanoma(149;1637 1853 29914 42869 44988)	uc002qoo.1		NA																	0				central_nervous_system(1)	1						c.(169-171)GAG>GAA		zinc finger protein 17							88.0	85.0	86.0					19																	57931031		2203	4300	6503	SO:0001819	synonymous_variant	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57931031G>A	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.171G>A	19.37:g.57931031G>A						ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Silent_p.E59E	p.E57E	NM_006959	NP_008890	P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	3	402	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	57			KRAB.		B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Silent	SNP	ENST00000601808.1	37	c.171G>A	CCDS42636.1																																																																																				0.493	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		16	65	0	0	0	0	16	65				
CYP1B1	1545	broad.mit.edu	37	2	38302533	38302533	+	Splice_Site	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr2:38302533C>T	ENST00000260630.3	-	2	401		c.e2-1		CYP1B1_ENST00000407341.1_Splice_Site|CYP1B1-AS1_ENST00000431999.1_RNA|CYP1B1_ENST00000494864.1_Intron|CYP1B1-AS1_ENST00000589303.1_RNA	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1						angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|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)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	GGTGCCCATGCTGGGGACAGA	0.667																																						uc002rqo.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.e3-1		cytochrome P450, family 1, subfamily B,	Estrone(DB00655)						43.0	42.0	43.0					2																	38302533		2201	4300	6501	SO:0001630	splice_region_variant	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38302533C>T	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.1-1G>A	2.37:g.38302533C>T								NM_000104	NP_000095	Q16678	CP1B1_HUMAN			3	403	-		all_hematologic(82;0.21)						Q5TZW8|Q93089|Q9H316	Splice_Site	SNP	ENST00000260630.3	37	c.0_splice	CCDS1793.1																																																																																				0.667	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104	Intron	7	40	0	0	0	0	7	40				
DUSP2	1844	broad.mit.edu	37	2	96809654	96809654	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr2:96809654C>T	ENST00000288943.4	-	4	938	c.853G>A	c.(853-855)Gac>Aac	p.D285N	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	285	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				TTAACGAAGTCAAAGGCCTCG	0.622																																						uc002svk.3		NA																	0				breast(1)	1						c.(853-855)GAC>AAC		dual specificity phosphatase 2							38.0	38.0	38.0					2																	96809654		2203	4300	6503	SO:0001583	missense	1844				endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	g.chr2:96809654C>T	L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.853G>A	2.37:g.96809654C>T	ENSP00000288943:p.Asp285Asn						p.D285N	NM_004418	NP_004409	Q05923	DUS2_HUMAN			4	939	-		Ovarian(717;0.0228)	285			Tyrosine-protein phosphatase.		Q53T45	Missense_Mutation	SNP	ENST00000288943.4	37	c.853G>A	CCDS2016.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420630	0.83559	.	.	ENSG00000158050	ENST00000288943	D	0.85556	-2.0	4.56	4.56	0.56223	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.061315	0.64402	D	0.000007	D	0.83557	0.5280	N	0.25031	0.7	0.58432	D	0.99999	P	0.34826	0.471	P	0.48488	0.579	T	0.82849	-0.0254	10	0.40728	T	0.16	.	15.2621	0.73631	0.0:1.0:0.0:0.0	.	285	Q05923	DUS2_HUMAN	N	285	ENSP00000288943:D285N	ENSP00000288943:D285N	D	-	1	0	DUSP2	96173381	1.000000	0.71417	0.962000	0.40283	0.980000	0.70556	7.581000	0.82535	2.562000	0.86427	0.550000	0.68814	GAC		0.622	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252847.1	NM_004418		7	21	0	0	0	0	7	21				
DNAH7	56171	broad.mit.edu	37	2	196729451	196729451	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr2:196729451G>C	ENST00000312428.6	-	41	7028	c.6928C>G	c.(6928-6930)Ccc>Gcc	p.P2310A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2310	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGGTTCATGGGTTTTTTGCTT	0.433																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(6928-6930)CCC>GCC		dynein, axonemal, heavy chain 7							188.0	182.0	184.0					2																	196729451		1906	4126	6032	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729451G>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6928C>G	2.37:g.196729451G>C	ENSP00000311273:p.Pro2310Ala						p.P2310A	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			41	7029	-			2310			AAA 4 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6928C>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	7.919	0.738126	0.15574	.	.	ENSG00000118997	ENST00000312428	T	0.39592	1.07	5.09	-4.44	0.03557	Dynein heavy chain, P-loop containing D4 domain (1);	0.488841	0.21761	N	0.069513	T	0.50548	0.1622	M	0.61703	1.905	0.40284	D	0.978422	P	0.39696	0.683	P	0.52189	0.692	T	0.54721	-0.8251	10	0.40728	T	0.16	.	16.7879	0.85579	0.0:0.066:0.7428:0.1912	.	2310	Q8WXX0	DYH7_HUMAN	A	2310	ENSP00000311273:P2310A	ENSP00000311273:P2310A	P	-	1	0	DNAH7	196437696	0.883000	0.30277	0.069000	0.20011	0.096000	0.18686	1.195000	0.32186	-0.998000	0.03446	0.460000	0.39030	CCC		0.433	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		7	104	0	0	0	0	7	104				
WFDC8	90199	broad.mit.edu	37	20	44180733	44180733	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr20:44180733C>G	ENST00000357199.4	-	6	736	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	WFDC8_ENST00000289953.2_Missense_Mutation_p.E220Q	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	220	WAP 3. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GGGCACTCCTCATCCTGCAGG	0.423																																						uc002xow.2		NA																	0					0						c.(658-660)GAG>CAG		WAP four-disulfide core domain 8 precursor							144.0	128.0	133.0					20																	44180733		2203	4300	6503	SO:0001583	missense	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44180733C>G	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.658G>C	20.37:g.44180733C>G	ENSP00000361735:p.Glu220Gln					WFDC8_uc002xox.2_Missense_Mutation_p.E220Q	p.E220Q	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN			6	737	-		Myeloproliferative disorder(115;0.0122)	220			WAP 3.		E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	ENST00000357199.4	37	c.658G>C	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	C	5.747	0.322213	0.10900	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	T;T	0.72505	-0.66;-0.66	4.64	-9.29	0.00653	Whey acidic protein, 4-disulphide core (4);	5.175160	0.00166	N	0.000009	T	0.45357	0.1338	N	0.16903	0.455	0.09310	N	1	B	0.20780	0.048	B	0.27380	0.079	T	0.45542	-0.9254	10	0.13853	T	0.58	.	1.3119	0.02100	0.2169:0.1434:0.1883:0.4513	.	220	Q8IUA0	WFDC8_HUMAN	Q	220	ENSP00000361735:E220Q;ENSP00000289953:E220Q	ENSP00000289953:E220Q	E	-	1	0	WFDC8	43614147	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.430000	0.01024	-2.532000	0.00491	-0.271000	0.10264	GAG		0.423	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			13	89	0	0	0	0	13	89				
GRIK1	2897	broad.mit.edu	37	21	30934006	30934006	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr21:30934006G>T	ENST00000399907.1	-	15	2706	c.2295C>A	c.(2293-2295)tgC>tgA	p.C765*	GRIK1_ENST00000535441.1_Nonsense_Mutation_p.C767*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.C765*|GRIK1_ENST00000389125.3_Nonsense_Mutation_p.C750*|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.C750*|GRIK1_ENST00000309434.7_Nonsense_Mutation_p.C767*|GRIK1_ENST00000399914.1_Nonsense_Mutation_p.C750*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.C765*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.C765*	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	765					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GAGTGAGGTTGCAGTTTCTCT	0.507																																						uc002yno.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(2293-2295)TGC>TGA		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						164.0	134.0	144.0					21																	30934006		2203	4300	6503	SO:0001587	stop_gained	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30934006G>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2295C>A	21.37:g.30934006G>T	ENSP00000382791:p.Cys765*					GRIK1_uc002ynn.2_Nonsense_Mutation_p.C750*|GRIK1_uc011acs.1_Nonsense_Mutation_p.C765*|GRIK1_uc011act.1_Nonsense_Mutation_p.C626*	p.C765*	NM_000830	NP_000821	P39086	GRIK1_HUMAN			15	2759	-			765			Extracellular (Potential).		Q13001|Q86SU9	Nonsense_Mutation	SNP	ENST00000399907.1	37	c.2295C>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	G	39	7.328209	0.98214	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	.	.	.	4.83	3.95	0.45737	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4332	0.61068	0.0771:0.0:0.9229:0.0	.	.	.	.	X	765;750;765;750;767;626;765;765;750;767	.	ENSP00000311646:C767X	C	-	3	2	GRIK1	29855877	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.436000	0.66538	1.395000	0.46643	0.563000	0.77884	TGC		0.507	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			11	58	1	0	7.04e-09	1.72e-08	11	58				
MX2	4600	broad.mit.edu	37	21	42754440	42754440	+	Silent	SNP	C	C	T	rs145539486	byFrequency	TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr21:42754440C>T	ENST00000330714.3	+	5	865	c.681C>T	c.(679-681)ccC>ccT	p.P227P	MX2_ENST00000543692.1_Silent_p.P182P	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	227	Dynamin-type G.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TTGACCTTCCCGGCATCACCA	0.602													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19648	0.0		0.001	False		,,,				2504	0.0					uc002yzf.1		NA																	0				ovary(2)	2						c.(679-681)CCC>CCT		myxovirus resistance protein 2		C		1,4405	2.1+/-5.4	0,1,2202	93.0	88.0	89.0		681	-6.1	0.2	21	dbSNP_134	89	10,8590	8.4+/-32.0	0,10,4290	no	coding-synonymous	MX2	NM_002463.1		0,11,6492	TT,TC,CC		0.1163,0.0227,0.0846		227/716	42754440	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42754440C>T		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.681C>T	21.37:g.42754440C>T						MX2_uc011aer.1_RNA	p.P227P	NM_002463	NP_002454	P20592	MX2_HUMAN			5	785	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	227			GTP (Potential).		B7Z5D3|D3DSI7	Silent	SNP	ENST00000330714.3	37	c.681C>T	CCDS13672.1																																																																																				0.602	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		9	78	0	0	0	0	9	78				
CABP7	164633	broad.mit.edu	37	22	30125152	30125152	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr22:30125152G>A	ENST00000216144.3	+	4	816	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			GACGGAGGAGGAGAGCCACCT	0.617																																						uc003agl.2		NA																	0					0						c.(475-477)GAG>AAG		calcium binding protein 7							41.0	39.0	40.0					22																	30125152		2203	4300	6503	SO:0001583	missense	164633					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr22:30125152G>A	BC051805	CCDS13867.1	22q12.2	2013-01-10			ENSG00000100314	ENSG00000100314		"""EF-hand domain containing"""	20834	protein-coding gene	gene with protein product						11785943	Standard	NM_182527		Approved	MGC57793	uc003agl.3	Q86V35	OTTHUMG00000151282	ENST00000216144.3:c.475G>A	22.37:g.30125152G>A	ENSP00000216144:p.Glu159Lys						p.E159K	NM_182527	NP_872333	Q86V35	CABP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)		4	545	+			159			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000216144.3	37	c.475G>A	CCDS13867.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.455366	0.84209	.	.	ENSG00000100314	ENST00000216144	T	0.70399	-0.48	4.97	4.97	0.65823	.	0.087456	0.49916	D	0.000126	T	0.56790	0.2009	N	0.19112	0.55	0.39683	D	0.970927	P	0.38335	0.627	B	0.33890	0.172	T	0.64681	-0.6350	10	0.52906	T	0.07	-3.5239	17.4225	0.87518	0.0:0.0:1.0:0.0	.	159	Q86V35	CABP7_HUMAN	K	159	ENSP00000216144:E159K	ENSP00000216144:E159K	E	+	1	0	CABP7	28455152	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.915000	0.75770	2.578000	0.87016	0.645000	0.84053	GAG		0.617	CABP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322080.1	NM_182527		6	21	0	0	0	0	6	21				
MICALL1	85377	broad.mit.edu	37	22	38328571	38328571	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr22:38328571C>G	ENST00000215957.6	+	11	2154	c.2028C>G	c.(2026-2028)gaC>gaG	p.D676E	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	676	RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TCCAGGCTGACCAGTACATCC	0.632																																						uc003aui.2		NA																	0				breast(1)	1						c.(2026-2028)GAC>GAG		molecule interacting with Rab13							68.0	71.0	70.0					22																	38328571		2203	4300	6503	SO:0001583	missense	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38328571C>G	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.2028C>G	22.37:g.38328571C>G	ENSP00000215957:p.Asp676Glu						p.D676E	NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN			11	2112	+	Melanoma(58;0.045)		676					Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	c.2028C>G	CCDS13961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.071506|4.071506	0.76301|0.76301	.|.	.|.	ENSG00000100139|ENSG00000100139	ENST00000215957;ENST00000402631|ENST00000454685	T;T|.	0.55413|.	0.52;1.93|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.67534|0.67534	0.2903|0.2903	M|M	0.76002|0.76002	2.32|2.32	0.51233|0.51233	D|D	0.999917|0.999917	D|.	0.89917|.	1.0|.	D|.	0.71414|.	0.973|.	T|T	0.68307|0.68307	-0.5443|-0.5443	10|5	0.48119|.	T|.	0.1|.	.|.	9.6288|9.6288	0.39768|0.39768	0.0:0.8392:0.0:0.1608|0.0:0.8392:0.0:0.1608	.|.	676|.	Q8N3F8|.	MILK1_HUMAN|.	E|A	676;103|252	ENSP00000215957:D676E;ENSP00000384608:D103E|.	ENSP00000215957:D676E|.	D|P	+|+	3|1	2|0	MICALL1|MICALL1	36658517|36658517	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.872000|0.872000	0.50106|0.50106	2.370000|2.370000	0.44240|0.44240	2.572000|2.572000	0.86782|0.86782	0.491000|0.491000	0.48974|0.48974	GAC|CCA		0.632	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		14	70	0	0	0	0	14	70				
PARP3	10039	broad.mit.edu	37	3	51978492	51978492	+	Silent	SNP	C	C	A			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr3:51978492C>A	ENST00000417220.2	+	5	887	c.399C>A	c.(397-399)acC>acA	p.T133T	RRP9_ENST00000232888.6_5'Flank|PARP3_ENST00000431474.1_Silent_p.T133T|PARP3_ENST00000398755.3_Silent_p.T140T			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	133					DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGGAAAAGACCAAGAACAACT	0.517																																						uc003dby.2		NA																	0				ovary(1)	1						c.(397-399)ACC>ACA		poly (ADP-ribose) polymerase family, member 3							119.0	135.0	130.0					3																	51978492		2000	4173	6173	SO:0001819	synonymous_variant	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51978492C>A	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.399C>A	3.37:g.51978492C>A						RRP9_uc003dbw.1_5'Flank|PARP3_uc003dbz.2_Silent_p.T140T	p.T133T	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	770	+			133					Q8NER9|Q96CG2|Q9UG81	Silent	SNP	ENST00000417220.2	37	c.399C>A	CCDS43097.1																																																																																				0.517	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		29	107	1	0	7.01e-11	1.75e-10	29	107				
TRIM42	287015	broad.mit.edu	37	3	140401851	140401851	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr3:140401851C>T	ENST00000286349.3	+	2	1080	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	297						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCCATCCAGCCGCATCATCGA	0.552																																						uc003eto.1		NA																	0				lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(889-891)CGC>TGC		tripartite motif-containing 42							242.0	203.0	216.0					3																	140401851		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140401851C>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.889C>T	3.37:g.140401851C>T	ENSP00000286349:p.Arg297Cys						p.R297C	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			2	1080	+			297			B box-type 2.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.889C>T	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675865	0.67928	.	.	ENSG00000155890	ENST00000286349	T	0.44083	0.93	5.46	4.51	0.55191	Zinc finger, B-box (2);	0.408323	0.22905	N	0.054220	T	0.40862	0.1134	N	0.14661	0.345	0.41287	D	0.98695	D	0.76494	0.999	P	0.60541	0.876	T	0.37911	-0.9685	10	0.72032	D	0.01	-35.9207	9.7889	0.40692	0.2561:0.7439:0.0:0.0	.	297	Q8IWZ5	TRI42_HUMAN	C	297	ENSP00000286349:R297C	ENSP00000286349:R297C	R	+	1	0	TRIM42	141884541	0.996000	0.38824	1.000000	0.80357	0.983000	0.72400	1.123000	0.31308	2.567000	0.86603	0.561000	0.74099	CGC		0.552	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		7	39	0	0	0	0	7	39				
BCHE	590	broad.mit.edu	37	3	165547361	165547361	+	Silent	SNP	G	G	A	rs74458984		TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr3:165547361G>A	ENST00000264381.3	-	2	1627	c.1461C>T	c.(1459-1461)gcC>gcT	p.A487A	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	487					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AAATTTCCTCGGCTTTTGTGT	0.403																																						uc003fem.3		NA																	0				ovary(3)|pancreas(1)	4						c.(1459-1461)GCC>GCT		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	G		0,4406		0,0,2203	78.0	83.0	82.0		1461	-8.1	0.9	3	dbSNP_131	82	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	BCHE	NM_000055.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		487/603	165547361	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547361G>A	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1461C>T	3.37:g.165547361G>A						BCHE_uc003fen.3_Intron	p.A487A	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	1621	-			487					A8K7P8	Silent	SNP	ENST00000264381.3	37	c.1461C>T	CCDS3198.1																																																																																				0.403	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			20	53	0	0	0	0	20	53				
CCKAR	886	broad.mit.edu	37	4	26483643	26483643	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr4:26483643C>T	ENST00000295589.3	-	5	1098	c.904G>A	c.(904-906)Gca>Aca	p.A302T		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	302					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGTTGGCTGCGGAGCTGTTA	0.612																																						uc003gse.1		NA																	0				lung(3)|pancreas(1)	4						c.(904-906)GCA>ACA		cholecystokinin A receptor	Ceruletide(DB00403)						107.0	93.0	98.0					4																	26483643		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483643C>T	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.904G>A	4.37:g.26483643C>T	ENSP00000295589:p.Ala302Thr						p.A302T	NM_000730	NP_000721	P32238	CCKAR_HUMAN			5	1057	-		Breast(46;0.0503)	302			Cytoplasmic (Potential).		B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.904G>A	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	3.881	-0.026028	0.07589	.	.	ENSG00000163394	ENST00000295589	T	0.37584	1.19	5.16	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.410373	0.28742	N	0.014295	T	0.17280	0.0415	N	0.17278	0.47	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24621	-1.0155	10	0.14252	T	0.57	.	5.2325	0.15430	0.1408:0.5565:0.0:0.3027	.	302	P32238	CCKAR_HUMAN	T	302	ENSP00000295589:A302T	ENSP00000295589:A302T	A	-	1	0	CCKAR	26092741	0.001000	0.12720	0.002000	0.10522	0.359000	0.29487	-0.244000	0.08903	0.205000	0.20568	0.462000	0.41574	GCA		0.612	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			25	123	0	0	0	0	25	123				
TENM3	55714	broad.mit.edu	37	4	183721257	183721257	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr4:183721257C>T	ENST00000511685.1	+	28	7976	c.7853C>T	c.(7852-7854)gCg>gTg	p.A2618V	TENM3_ENST00000406950.2_Missense_Mutation_p.A2618V			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2618					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GAGGAGAAGGCGCGCATCCTG	0.751																																						uc003ivd.1		NA																	0					0						c.(7852-7854)GCG>GTG		odz, odd Oz/ten-m homolog 3							10.0	12.0	12.0					4																	183721257		2109	4220	6329	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183721257C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.7853C>T	4.37:g.183721257C>T	ENSP00000424226:p.Ala2618Val						p.A2618V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	27	7890	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	2618			Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.7853C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805680	0.31961	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86562	-2.14;-2.14	4.16	4.16	0.48862	.	.	.	.	.	T	0.76564	0.4005	N	0.11651	0.15	0.58432	D	0.99999	B	0.11235	0.004	B	0.10450	0.005	T	0.70550	-0.4841	9	0.25751	T	0.34	.	16.9951	0.86365	0.0:1.0:0.0:0.0	.	2618	Q9P273	TEN3_HUMAN	V	2618	ENSP00000424226:A2618V;ENSP00000385276:A2618V	ENSP00000385276:A2618V	A	+	2	0	ODZ3	183958251	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.738000	0.62073	2.312000	0.78011	0.455000	0.32223	GCG		0.751	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			4	11	0	0	0	0	4	11				
HIST1H2AM	8336	broad.mit.edu	37	6	27860847	27860847	+	Silent	SNP	A	A	G			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr6:27860847A>G	ENST00000359611.2	-	1	116	c.81T>C	c.(79-81)ccT>ccC	p.P27P	HIST1H3J_ENST00000479986.1_5'UTR|HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	27						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CTCGTCCTACAGGAAATTGGA	0.647																																						uc003nkb.1		NA																	0				ovary(2)	2						c.(79-81)CCT>CCC		histone cluster 1, H2am							39.0	43.0	42.0					6																	27860847		2203	4300	6503	SO:0001819	synonymous_variant	8336				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27860847A>G	X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"""Histones / Replication-dependent"""	4735	protein-coding gene	gene with protein product		602796	"""H2A histone family, member N"", ""histone 1, H2am"""	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.81T>C	6.37:g.27860847A>G						HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	p.P27P	NM_003514	NP_003505	P0C0S8	H2A1_HUMAN			1	117	-			27					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000359611.2	37	c.81T>C	CCDS4639.1																																																																																				0.647	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1	NM_003514		12	54	0	0	0	0	12	54				
IP6K3	117283	broad.mit.edu	37	6	33690810	33690810	+	Missense_Mutation	SNP	C	C	T	rs371307963		TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr6:33690810C>T	ENST00000293756.4	-	6	1246	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	IP6K3_ENST00000451316.1_Missense_Mutation_p.R307Q	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	307					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						GAGGAGGGCCCGGAGCTGGTG	0.552																																						uc010jvf.2		NA																	0					0						c.(919-921)CGG>CAG		inositol hexakisphosphate kinase 3		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	49.0	54.0	52.0		920,920	-12.0	0.0	6		52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	IP6K3	NM_001142883.1,NM_054111.4	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	307/411,307/411	33690810	1,13005	2203	4300	6503	SO:0001583	missense	117283				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	g.chr6:33690810C>T	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.920G>A	6.37:g.33690810C>T	ENSP00000293756:p.Arg307Gln					IP6K3_uc003ofb.2_Missense_Mutation_p.R307Q	p.R307Q	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN			7	1456	-			307					Q96MQ9	Missense_Mutation	SNP	ENST00000293756.4	37	c.920G>A	CCDS34435.1	.	.	.	.	.	.	.	.	.	.	C	5.314	0.243217	0.10077	0.0	1.16E-4	ENSG00000161896	ENST00000451316;ENST00000293756	T;T	0.15603	2.41;2.41	5.99	-12.0	0.00017	.	1.021480	0.07787	N	0.954359	T	0.02888	0.0086	L	0.27944	0.81	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.46162	-0.9211	10	0.12103	T	0.63	-12.0943	19.9242	0.97098	0.0:0.5693:0.0:0.4307	.	307	Q96PC2	IP6K3_HUMAN	Q	307	ENSP00000398861:R307Q;ENSP00000293756:R307Q	ENSP00000293756:R307Q	R	-	2	0	IP6K3	33798788	0.000000	0.05858	0.031000	0.17742	0.107000	0.19398	-0.950000	0.03889	-3.014000	0.00272	-1.910000	0.00522	CGG		0.552	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111		4	38	0	0	0	0	4	38				
AQP1	358	broad.mit.edu	37	7	30951738	30951738	+	Missense_Mutation	SNP	G	G	A	rs548913885		TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr7:30951738G>A	ENST00000311813.4	+	1	269	c.214G>A	c.(214-216)Ggc>Agc	p.G72S	AQP1_ENST00000434909.2_Missense_Mutation_p.G132S|AQP1_ENST00000509504.1_Missense_Mutation_p.G249S	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	72					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	CCACATCAGCGGCGCCCACCT	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		17907	0.0		0.0	False		,,,				2504	0.001					uc003tbv.1		NA																	0					0						c.(214-216)GGC>AGC		aquaporin 1	Acetazolamide(DB00819)						40.0	43.0	42.0					7																	30951738		2202	4299	6501	SO:0001583	missense	358				ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport	apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole	ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity	g.chr7:30951738G>A	M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"""Ion channels / Aquaporins"", ""Blood group antigens"""	633	protein-coding gene	gene with protein product		107776	"""Colton blood group"", ""aquaporin 1 (channel-forming integral protein, 28kDa)"", ""aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)"", ""aquaporin 1"""	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.214G>A	7.37:g.30951738G>A	ENSP00000311165:p.Gly72Ser					AQP1_uc011kac.1_Missense_Mutation_p.G132S	p.G72S	NM_198098	NP_932766	P29972	AQP1_HUMAN			1	271	+		Melanoma(862;0.16)	72					B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Missense_Mutation	SNP	ENST00000311813.4	37	c.214G>A	CCDS5431.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823411	0.71143	.	.	ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000250424	ENST00000434909;ENST00000311813;ENST00000413400;ENST00000509504	D;D;D	0.96685	-4.09;-4.09;-4.09	4.46	4.46	0.54185	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.98729	0.9573	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99222	1.0879	10	0.87932	D	0	.	15.0132	0.71565	0.0:0.0:1.0:0.0	.	132;72	B4E220;P29972	.;AQP1_HUMAN	S	132;72;72;249	ENSP00000395059:G132S;ENSP00000311165:G72S;ENSP00000421315:G249S	ENSP00000311165:G72S	G	+	1	0	RP5-877J2.1;AQP1	30918263	1.000000	0.71417	0.662000	0.29724	0.293000	0.27360	9.595000	0.98260	2.490000	0.84030	0.561000	0.74099	GGC		0.657	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3	NM_000385		6	50	0	0	0	0	6	50				
TRIM50	135892	broad.mit.edu	37	7	72730600	72730600	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr7:72730600T>C	ENST00000333149.2	-	6	1038	c.838A>G	c.(838-840)Acc>Gcc	p.T280A	TRIM50_ENST00000453152.1_Missense_Mutation_p.T280A	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	280	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						TTCCACACGGTCAGCTTGATG	0.617																																						uc010lbd.1		NA																	0				skin(1)	1						c.(838-840)ACC>GCC		tripartite motif protein 50A							88.0	75.0	79.0					7																	72730600		2203	4300	6503	SO:0001583	missense	135892					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	g.chr7:72730600T>C	AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.838A>G	7.37:g.72730600T>C	ENSP00000327994:p.Thr280Ala					FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.T280A|TRIM50_uc003txz.1_Missense_Mutation_p.T279A	p.T280A	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN			6	963	-			280			B30.2/SPRY.		Q86XT3	Missense_Mutation	SNP	ENST00000333149.2	37	c.838A>G	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.133824	0.37630	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.63744	-0.06;-0.06	4.96	4.96	0.65561	B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000018	T	0.67951	0.2948	L	0.42245	1.32	0.40115	D	0.976535	D;D	0.67145	0.996;0.993	D;D	0.77557	0.99;0.978	T	0.62992	-0.6736	10	0.07325	T	0.83	.	13.9083	0.63850	0.0:0.0:0.0:1.0	.	279;280	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	A	280	ENSP00000327994:T280A;ENSP00000413875:T280A	ENSP00000327994:T280A	T	-	1	0	TRIM50	72368536	1.000000	0.71417	0.997000	0.53966	0.861000	0.49209	2.034000	0.41145	2.224000	0.72417	0.459000	0.35465	ACC		0.617	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125		8	42	0	0	0	0	8	42				
SLC13A4	26266	broad.mit.edu	37	7	135390963	135390963	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr7:135390963C>T	ENST00000354042.4	-	4	1140	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	RP11-644N4.1_ENST00000609370.1_RNA	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	151					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.V151M(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						ACGGCCTCCACGATGGGCATC	0.612																																						uc003vta.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(451-453)GTG>ATG		solute carrier family 13 (sodium/sulfate							116.0	94.0	102.0					7																	135390963		2203	4300	6503	SO:0001583	missense	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135390963C>T	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.451G>A	7.37:g.135390963C>T	ENSP00000297282:p.Val151Met					SLC13A4_uc003vtb.2_Missense_Mutation_p.V151M	p.V151M	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN			4	1140	-			151					A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	37	c.451G>A	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694987	0.88830	.	.	ENSG00000164707	ENST00000354042	T	0.03580	3.88	5.56	4.69	0.59074	.	0.063242	0.64402	D	0.000007	T	0.13030	0.0316	L	0.60957	1.885	0.46279	D	0.99896	D	0.71674	0.998	D	0.65684	0.937	T	0.00406	-1.1759	10	0.72032	D	0.01	.	12.1999	0.54319	0.0:0.9171:0.0:0.0829	.	151	Q9UKG4	S13A4_HUMAN	M	151	ENSP00000297282:V151M	ENSP00000297282:V151M	V	-	1	0	SLC13A4	135041503	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.818000	0.86416	1.356000	0.45884	0.561000	0.74099	GTG		0.612	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		10	59	0	0	0	0	10	59				
KIAA0196	9897	broad.mit.edu	37	8	126067886	126067886	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr8:126067886T>C	ENST00000318410.7	-	17	2393	c.2044A>G	c.(2044-2046)Att>Gtt	p.I682V	KIAA0196_ENST00000517845.1_Missense_Mutation_p.I534V	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	682					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TCAGTAAAAATGGAAATAGCA	0.383																																						uc003yrt.2		NA																	0				ovary(2)	2						c.(2044-2046)ATT>GTT		strumpellin							131.0	127.0	129.0					8																	126067886		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126067886T>C		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2044A>G	8.37:g.126067886T>C	ENSP00000318016:p.Ile682Val					KIAA0196_uc011lir.1_Missense_Mutation_p.I534V|KIAA0196_uc003yru.1_Missense_Mutation_p.I256V	p.I682V	NM_014846	NP_055661	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		17	2373	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		682					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.2044A>G	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	T	2.255	-0.370540	0.05069	.	.	ENSG00000164961	ENST00000318410;ENST00000517845	D;D	0.85339	-1.97;-1.97	5.22	5.22	0.72569	.	0.047726	0.85682	D	0.000000	T	0.62514	0.2434	N	0.01454	-0.855	0.52501	D	0.999958	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.63967	-0.6517	10	0.02654	T	1	-19.1761	15.1215	0.72447	0.0:0.0:0.0:1.0	.	534;682	E7EQI7;Q12768	.;STRUM_HUMAN	V	682;534	ENSP00000318016:I682V;ENSP00000429676:I534V	ENSP00000318016:I682V	I	-	1	0	KIAA0196	126137068	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	5.121000	0.64691	1.964000	0.57103	0.533000	0.62120	ATT		0.383	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		29	113	0	0	0	0	29	113				
ZNF618	114991	broad.mit.edu	37	9	116750680	116750680	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr9:116750680G>C	ENST00000374126.5	+	3	256	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	ZNF618_ENST00000288466.7_Missense_Mutation_p.E53Q			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	53					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GCTGAGTGCCGAGCAAGGAAC	0.612																																						uc004bid.2		NA																	0					0						c.(157-159)GAG>CAG		zinc finger protein 618							50.0	56.0	54.0					9																	116750680		2150	4248	6398	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116750680G>C	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.157G>C	9.37:g.116750680G>C	ENSP00000363241:p.Glu53Gln					ZNF618_uc004bib.1_Missense_Mutation_p.E53Q|ZNF618_uc004bic.2_Missense_Mutation_p.E53Q|ZNF618_uc011lxi.1_Missense_Mutation_p.E53Q|ZNF618_uc011lxj.1_Missense_Mutation_p.E53Q	p.E53Q	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			3	256	+			53					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.157G>C		.	.	.	.	.	.	.	.	.	.	G	16.71	3.199697	0.58126	.	.	ENSG00000157657	ENST00000374126;ENST00000288466;ENST00000452710;ENST00000374124	T;T;T	0.23754	4.08;2.43;1.89	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000009	T	0.35008	0.0917	N	0.24115	0.695	0.38704	D	0.953053	P;B;B;B;D	0.71674	0.956;0.27;0.154;0.255;0.998	P;B;B;B;D	0.81914	0.501;0.026;0.027;0.04;0.995	T	0.12502	-1.0545	10	0.21014	T	0.42	-28.5604	15.62	0.76799	0.0:0.0:1.0:0.0	.	53;53;53;53;53	B5MDS3;B9EG82;Q5T7W0;Q5T7W0-2;Q5T7W0-3	.;.;ZN618_HUMAN;.;.	Q	53	ENSP00000288466:E53Q;ENSP00000395400:E53Q;ENSP00000363239:E53Q	ENSP00000288466:E53Q	E	+	1	0	ZNF618	115790501	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.671000	0.61590	2.356000	0.79943	0.462000	0.41574	GAG		0.612	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		6	22	0	0	0	0	6	22				
TEK	7010	broad.mit.edu	37	9	27220064	27220064	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr9:27220064delG	ENST00000380036.4	+	21	3563	c.3121delG	c.(3121-3123)gggfs	p.G1041fs	TEK_ENST00000406359.4_Frame_Shift_Del_p.G998fs|TEK_ENST00000519097.1_Frame_Shift_Del_p.G893fs	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1041	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	ACCCTACTGCGGGATGACTTG	0.527																																						uc003zqi.3		NA																	0				ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12						c.(3121-3123)GGGfs		TEK tyrosine kinase, endothelial precursor							136.0	132.0	133.0					9																	27220064		2203	4300	6503	SO:0001589	frameshift_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27220064delG	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.3121delG	9.37:g.27220064delG	ENSP00000369375:p.Gly1041fs					TEK_uc011lno.1_Frame_Shift_Del_p.G998fs|TEK_uc011lnp.1_Frame_Shift_Del_p.G893fs	p.G1041fs	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	21	3563	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	1041			Protein kinase.|Cytoplasmic (Potential).		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Frame_Shift_Del	DEL	ENST00000380036.4	37	c.3121delG	CCDS6519.1																																																																																				0.527	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			27	89	NA	NA	NA	NA	27	89	---	---	---	---
CNTRL	11064	broad.mit.edu	37	9	123860779	123860779	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6227-01A-11D-1912-08	TCGA-CQ-6227-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	ca62509e-d477-41ca-9bc2-3f20c2dd4e49	5c2ca813-1c97-44ea-ab63-2e35604115d6	g.chr9:123860779C>T	ENST00000373855.1	+	7	997	c.737C>T	c.(736-738)tCa>tTa	p.S246L	CNTRL_ENST00000238341.5_Missense_Mutation_p.S246L|CNTRL_ENST00000373865.2_Missense_Mutation_p.S246L			Q7Z7A1	CNTRL_HUMAN	centriolin	246	LRRCT.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CACCTCCGTTCATTGGAAAGT	0.373																																						uc004bkx.1		NA																	0					0						c.(736-738)TCA>TTA		centrosomal protein 110kDa							77.0	72.0	74.0					9																	123860779		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123860779C>T	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.737C>T	9.37:g.123860779C>T	ENSP00000362962:p.Ser246Leu					CEP110_uc004bkw.2_Missense_Mutation_p.S246L	p.S246L	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			5	768	+			246			LRRCT.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.737C>T	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	C	32	5.109433	0.94292	.	.	ENSG00000119397	ENST00000373865;ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.54479	0.57;0.57	5.62	5.62	0.85841	.	.	.	.	.	T	0.67646	0.2915	M	0.73217	2.22	0.44316	D	0.997194	D	0.56521	0.976	P	0.54815	0.761	T	0.71262	-0.4645	9	0.87932	D	0	.	18.6525	0.91435	0.0:1.0:0.0:0.0	.	246	Q7Z7A1	CNTRL_HUMAN	L	246	ENSP00000362962:S246L;ENSP00000238341:S246L	ENSP00000238341:S246L	S	+	2	0	CNTRL	122900600	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	5.673000	0.68109	2.634000	0.89283	0.655000	0.94253	TCA		0.373	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		8	27	0	0	0	0	8	27				
