#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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DEPDC1B	55789	broad.mit.edu	37	5	59940657	59940657	+	Missense_Mutation	SNP	G	G	C	rs200675292		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:59940657G>C	ENST00000265036.5	-	5	691	c.624C>G	c.(622-624)gaC>gaG	p.D208E	DEPDC1B_ENST00000545085.1_Missense_Mutation_p.D181E|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.D208E	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	208	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CAAGTTTGACGTCTAAAACTT	0.299																																						ENST00000265036.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17						c.(622-624)gaC>gaG		DEP domain containing 1B							81.0	80.0	81.0					5																	59940657		2203	4300	6503	SO:0001583	missense	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59940657G>C	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.624C>G	5.37:g.59940657G>C	ENSP00000265036:p.Asp208Glu					DEPDC1B_ENST00000545085.1_Missense_Mutation_p.D181E|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.D208E	p.D208E	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN			5	691	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	208			Rho-GAP.		A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	ENST00000265036.5	37	c.624C>G	CCDS3977.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497607	0.44455	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.28666	2.35;2.05;1.6	5.94	1.54	0.23209	Rho GTPase-activating protein domain (1);	0.089843	0.85682	D	0.000000	T	0.32585	0.0834	M	0.76002	2.32	0.23282	N	0.997982	B;B	0.28400	0.124;0.21	B;B	0.32022	0.139;0.114	T	0.22906	-1.0203	9	.	.	.	-16.237	10.1582	0.42836	0.4814:0.0:0.5186:0.0	.	208;208	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	E	208;208;181	ENSP00000265036:D208E;ENSP00000389101:D208E;ENSP00000438320:D181E	.	D	-	3	2	DEPDC1B	59976414	0.008000	0.16893	0.514000	0.27761	0.988000	0.76386	0.076000	0.14712	0.378000	0.24764	0.557000	0.71058	GAC		0.299	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		3	29	0	0	0	1	0	3	29				
ZKSCAN5	23660	broad.mit.edu	37	7	99110205	99110205	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:99110205G>C	ENST00000394170.2	+	3	795	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.E182Q|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.E182Q	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCGTCTCCTGGAGGAAAATGG	0.582																																						ENST00000394170.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(544-546)Gag>Cag		zinc finger with KRAB and SCAN domains 5							71.0	63.0	66.0					7																	99110205		2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99110205G>C	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.544G>C	7.37:g.99110205G>C	ENSP00000377725:p.Glu182Gln					ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.E182Q|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.E182Q	p.E182Q	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			3	795	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		182					A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.544G>C	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	G	9.355	1.066496	0.20067	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.04234	3.67;3.67;3.67	5.71	5.71	0.89125	.	0.558836	0.16276	N	0.221595	T	0.03095	0.0091	N	0.08118	0	0.27237	N	0.959235	P;B	0.38195	0.622;0.392	B;B	0.34991	0.193;0.193	T	0.49579	-0.8925	10	0.14656	T	0.56	.	15.798	0.78428	0.0:0.0:1.0:0.0	.	182;182	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	Q	182	ENSP00000322872:E182Q;ENSP00000392104:E182Q;ENSP00000377725:E182Q	ENSP00000322872:E182Q	E	+	1	0	ZKSCAN5	98948141	1.000000	0.71417	0.989000	0.46669	0.958000	0.62258	3.107000	0.50329	2.881000	0.98747	0.650000	0.86243	GAG		0.582	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		5	33	0	0	0	1	0	5	33				
YME1L1	10730	broad.mit.edu	37	10	27406523	27406523	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:27406523C>A	ENST00000326799.3	-	16	2020	c.1872G>T	c.(1870-1872)cgG>cgT	p.R624R	YME1L1_ENST00000376016.3_Silent_p.R567R|YME1L1_ENST00000375972.3_Silent_p.R534R	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	624					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GTGTTGGCCCCCGTGGCATGA	0.463																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1870-1872)cgG>cgT		YME1-like 1 ATPase							278.0	237.0	251.0					10																	27406523		2203	4300	6503	SO:0001819	synonymous_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27406523C>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1872G>T	10.37:g.27406523C>A						YME1L1_ENST00000376016.3_Silent_p.R567R|YME1L1_ENST00000375972.3_Silent_p.R534R	p.R624R	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			16	2020	-			624					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Silent	SNP	ENST00000326799.3	37	c.1872G>T	CCDS7152.1																																																																																				0.463	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		22	41	1	0	6.21321e-17	1	7.37562e-17	22	41				
GABRQ	55879	broad.mit.edu	37	X	151821301	151821301	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:151821301G>T	ENST00000370306.2	+	9	1476	c.1456G>T	c.(1456-1458)Gtc>Ttc	p.V486F		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	486					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCGCAACCGTGTCGAAGCCCA	0.552																																						ENST00000370306.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1456-1458)Gtc>Ttc		gamma-aminobutyric acid (GABA) A receptor, theta							121.0	105.0	110.0					X																	151821301		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151821301G>T	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1456G>T	X.37:g.151821301G>T	ENSP00000359329:p.Val486Phe						p.V486F	NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN			9	1476	+	Acute lymphoblastic leukemia(192;6.56e-05)		486					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.1456G>T	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568523	0.28003	.	.	ENSG00000147402	ENST00000370306	T	0.79247	-1.25	4.47	1.56	0.23342	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.741290	0.02962	N	0.143225	T	0.60470	0.2271	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52457	-0.8573	10	0.87932	D	0	.	4.3071	0.10953	0.1143:0.0:0.4706:0.4152	.	486	Q9UN88	GBRT_HUMAN	F	486	ENSP00000359329:V486F	ENSP00000359329:V486F	V	+	1	0	GABRQ	151571957	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.342000	0.07801	0.174000	0.19809	0.600000	0.82982	GTC		0.552	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		7	169	1	0	0.000157383	1	0.000164976	7	169				
OR8D2	283160	broad.mit.edu	37	11	124189669	124189669	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:124189669G>T	ENST00000357438.2	-	1	515	c.425C>A	c.(424-426)tCc>tAc	p.S142Y		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CATCATTATGGAACAGACCCT	0.473																																						ENST00000357438.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(424-426)tCc>tAc		olfactory receptor, family 8, subfamily D, member 2							95.0	87.0	90.0					11																	124189669		2201	4299	6500	SO:0001583	missense	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189669G>T	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.425C>A	11.37:g.124189669G>T	ENSP00000350022:p.Ser142Tyr						p.S142Y	NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	515	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	142					B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	c.425C>A	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	g	11.77	1.738081	0.30774	.	.	ENSG00000197263	ENST00000357438	T	0.36520	1.25	3.6	1.71	0.24356	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000291	T	0.39200	0.1069	L	0.47016	1.485	0.09310	N	1	D	0.76494	0.999	D	0.67548	0.952	T	0.32981	-0.9886	10	0.02654	T	1	.	7.2477	0.26131	0.379:0.0:0.621:0.0	.	142	Q9GZM6	OR8D2_HUMAN	Y	142	ENSP00000350022:S142Y	ENSP00000350022:S142Y	S	-	2	0	OR8D2	123694879	0.000000	0.05858	0.011000	0.14972	0.682000	0.39822	-0.129000	0.10515	0.534000	0.28695	0.420000	0.28162	TCC		0.473	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		23	31	1	0	2.89027e-11	1	3.25837e-11	23	31				
CCL18	6362	broad.mit.edu	37	17	34398365	34398365	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:34398365C>A	ENST00000004921.3	+	3	297	c.234C>A	c.(232-234)gtC>gtA	p.V78V	AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000588864.1_RNA	NM_002988.2	NP_002979.1	P55774	CCL18_HUMAN	chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)	78					cell chemotaxis (GO:0060326)|cell communication (GO:0007154)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|response to biotic stimulus (GO:0009607)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGAAGTGGGTCCAGAAATACA	0.567																																						ENST00000004921.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(232-234)gtC>gtA		chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)							76.0	74.0	75.0					17																	34398365		2203	4300	6503	SO:0001819	synonymous_variant	6362				cell-cell signaling|chemotaxis|immune response|inflammatory response|response to biotic stimulus|signal transduction	extracellular space	chemokine activity	g.chr17:34398365C>A	Y13710	CCDS11306.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000006074	ENSG00000275385		"""Chemokine ligands"""	10616	protein-coding gene	gene with protein product		603757	"""small inducible cytokine subfamily A (Cys-Cys), member 18, pulmonary and activation-regulated"""	SCYA18		9233607, 10049593	Standard	NM_002988		Approved	DC-CK1, PARC, AMAC-1, DCCK1, MIP-4, CKb7	uc002hku.3	P55774	OTTHUMG00000188410	ENST00000004921.3:c.234C>A	17.37:g.34398365C>A							p.V78V	NM_002988.2	NP_002979.1	P55774	CCL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	3	297	+		Ovarian(249;0.17)	78					B5BUM2|Q53X71	Silent	SNP	ENST00000004921.3	37	c.234C>A	CCDS11306.1																																																																																				0.567	CCL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256583.1	NM_002988		10	54	1	0	9.70103e-10	1	1.08343e-09	10	54				
TET3	200424	broad.mit.edu	37	2	74273794	74273794	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:74273794C>G	ENST00000409262.3	+	1	345	c.345C>G	c.(343-345)agC>agG	p.S115R		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	115					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCTGGCAGCGAAGACCTTG	0.627																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(343-345)agC>agG		tet methylcytosine dioxygenase 3							47.0	50.0	49.0					2																	74273794		2024	4183	6207	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74273794C>G		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.345C>G	2.37:g.74273794C>G	ENSP00000386869:p.Ser115Arg						p.S115R	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			1	345	+			115					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.345C>G	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.409172	0.42715	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.26518	1.73;2.6	5.3	-6.8	0.01709	.	.	.	.	.	T	0.09379	0.0231	N	0.08118	0	0.23162	N	0.9982	B	0.06786	0.001	B	0.04013	0.001	T	0.29518	-1.0009	9	0.37606	T	0.19	.	4.2769	0.10813	0.0987:0.3149:0.0909:0.4955	.	115	O43151	TET3_HUMAN	R	157;115;115	ENSP00000307803:S157R;ENSP00000386869:S115R	ENSP00000233310:S115R	S	+	3	2	TET3	74127302	0.001000	0.12720	0.888000	0.34837	0.995000	0.86356	-1.399000	0.02506	-0.918000	0.03808	0.555000	0.69702	AGC		0.627	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			6	74	0	0	0	1	0	6	74				
SNTA1	6640	broad.mit.edu	37	20	32005704	32005704	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:32005704C>G	ENST00000217381.2	-	3	793	c.522G>C	c.(520-522)ccG>ccC	p.P174P		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	174	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TCTTGAAATACGGTGAGACGT	0.547																																						ENST00000217381.2																			0				breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						c.(520-522)ccG>ccC		syntrophin, alpha 1							87.0	87.0	87.0					20																	32005704		2203	4300	6503	SO:0001819	synonymous_variant	6640				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	g.chr20:32005704C>G	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.522G>C	20.37:g.32005704C>G							p.P174P	NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN			3	793	-			174			PH 1.		A8K7H9|B4DX40|E1P5N1|Q16438	Silent	SNP	ENST00000217381.2	37	c.522G>C	CCDS13220.1																																																																																				0.547	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098		7	70	0	0	0	1	0	7	70				
CYHR1	50626	broad.mit.edu	37	8	145689747	145689747	+	Intron	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:145689747C>G	ENST00000438911.2	-	2	380				CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000306145.5_Silent_p.V114V|CYHR1_ENST00000403000.2_Silent_p.V114V|KIFC2_ENST00000301332.2_5'Flank|CYHR1_ENST00000530374.1_5'Flank|CYHR1_ENST00000424149.2_Silent_p.V114V	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1							cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCTGACCAGCCACAGAGCGGC	0.642																																						ENST00000403000.2																			0				haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7						c.(340-342)gtG>gtC		cysteine/histidine-rich 1							55.0	63.0	60.0					8																	145689747		2201	4295	6496	SO:0001627	intron_variant	50626					perinuclear region of cytoplasm	zinc ion binding	g.chr8:145689747C>G	AB007965	CCDS6426.1, CCDS47943.1	8q24	2004-12-07	2005-07-24		ENSG00000187954	ENSG00000187954			17806	protein-coding gene	gene with protein product			"""cysteine and histidine rich 1"""			10745073	Standard	NM_138496		Approved	CHRP, KIAA0496, MGC13010	uc003zcv.2	Q6ZMK1	OTTHUMG00000165171	ENST00000438911.2:c.246+95G>C	8.37:g.145689747C>G						CYHR1_ENST00000438911.2_Intron|CYHR1_ENST00000424149.2_Silent_p.V114V|CYHR1_ENST00000306145.5_Silent_p.V114V|CTD-2517M22.16_ENST00000525461.1_RNA	p.V114V	NM_032687.3	NP_116076.1	Q6ZMK1	CYHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		2	929	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		0					B3KSX0|D3DWM3|Q9BSF6|Q9BSU6	Silent	SNP	ENST00000438911.2	37	c.342G>C	CCDS47943.1																																																																																				0.642	CYHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382438.1	NM_032687		115	84	0	0	0	1	0	115	84				
R3HDM1	23518	broad.mit.edu	37	2	136467716	136467716	+	Missense_Mutation	SNP	C	C	A	rs145608320		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:136467716C>A	ENST00000264160.4	+	22	2916	c.2546C>A	c.(2545-2547)cCg>cAg	p.P849Q	R3HDM1_ENST00000409478.1_Missense_Mutation_p.P721Q|R3HDM1_ENST00000410054.1_Missense_Mutation_p.P794Q|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P850Q|R3HDM1_ENST00000329971.3_Missense_Mutation_p.P720Q	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	849							poly(A) RNA binding (GO:0044822)	p.P849L(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CACTCACCCCCGCAGTGGAAA	0.468											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264160.4																			1	Substitution - Missense(1)	p.P849L(1)	lung(1)	breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(2545-2547)cCg>cAg		R3H domain containing 1							124.0	114.0	117.0					2																	136467716		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136467716C>A	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2546C>A	2.37:g.136467716C>A	ENSP00000264160:p.Pro849Gln		OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1626	R3HDM1_ENST00000409478.1_Missense_Mutation_p.P721Q|R3HDM1_ENST00000329971.3_Missense_Mutation_p.P720Q|R3HDM1_ENST00000410054.1_Missense_Mutation_p.P794Q|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P850Q	p.P849Q	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	22	2916	+			849					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.2546C>A	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.44|17.44	3.389502|3.389502	0.61956|0.61956	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606|ENST00000445855	T;T;T;T;T|.	0.32515|.	1.47;1.49;1.47;1.45;1.49|.	5.49|5.49	4.61|4.61	0.57282|0.57282	.|.	0.381500|.	0.29403|.	N|.	0.012241|.	T|T	0.68320|0.68320	0.2988|0.2988	L|L	0.56769|0.56769	1.78|1.78	0.46874|0.46874	D|D	0.999231|0.999231	D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0|.	D;D;D;D|.	0.81914|.	0.994;0.947;0.99;0.995|.	T|T	0.66728|0.66728	-0.5850|-0.5850	10|5	0.48119|.	T|.	0.1|.	-7.7072|-7.7072	13.8533|13.8533	0.63510|0.63510	0.0:0.9255:0.0:0.0745|0.0:0.9255:0.0:0.0745	.|.	721;850;794;849|.	G5E9G8;E9PBB4;E9PG42;Q15032|.	.;.;.;R3HD1_HUMAN|.	Q|S	721;849;720;794;850|145	ENSP00000386457:P721Q;ENSP00000264160:P849Q;ENSP00000331396:P720Q;ENSP00000386877:P794Q;ENSP00000387010:P850Q|.	ENSP00000264160:P849Q|.	P|R	+|+	2|1	0|0	R3HDM1|R3HDM1	136184186|136184186	1.000000|1.000000	0.71417|0.71417	0.699000|0.699000	0.30290|0.30290	0.895000|0.895000	0.52256|0.52256	6.130000|6.130000	0.71663|0.71663	1.306000|1.306000	0.44926|0.44926	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.468	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		36	45	1	0	2.09667e-21	1	2.56537e-21	36	45				
ZNF733P	643955	broad.mit.edu	37	7	62751977	62751977	+	RNA	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:62751977C>A	ENST00000331425.6	-	0	1458					NR_003952.1				zinc finger protein 733, pseudogene																		TGGTCACATTCTTCACATTTG	0.388																																						ENST00000331425.6																			0																																																			643955							g.chr7:62751977C>A			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62751977C>A								NR_003952.1						0	1458	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.388	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			5	44	1	0	2.17888e-05	1	2.30421e-05	5	44				
DCAF12L2	340578	broad.mit.edu	37	X	125298905	125298905	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:125298905G>C	ENST00000360028.2	-	1	1029	c.1003C>G	c.(1003-1005)Cgc>Ggc	p.R335G	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R335G			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	335								p.R335C(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGGCGCTGGCGCGGATCCAGG	0.627																																						ENST00000538699.1																			2	Substitution - Missense(2)	p.R335C(2)	endometrium(2)	NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(1003-1005)Cgc>Ggc		DDB1 and CUL4 associated factor 12-like 2							59.0	63.0	62.0					X																	125298905		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125298905G>C	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1003C>G	X.37:g.125298905G>C	ENSP00000353128:p.Arg335Gly					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R335G	p.R335G	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	1083	-			335					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1003C>G	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626413	0.46840	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.66995	-0.24;-0.24	4.05	2.14	0.27477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.33057	N	0.005338	T	0.80042	0.4551	M	0.82323	2.585	0.41213	D	0.986454	D	0.89917	1.0	D	0.85130	0.997	T	0.79586	-0.1742	10	0.62326	D	0.03	.	9.6185	0.39708	0.0:0.0:0.6157:0.3843	.	335	Q5VW00	DC122_HUMAN	G	335	ENSP00000441489:R335G;ENSP00000353128:R335G	ENSP00000353128:R335G	R	-	1	0	DCAF12L2	125126586	0.997000	0.39634	0.036000	0.18154	0.811000	0.45836	2.526000	0.45607	0.408000	0.25621	0.544000	0.68410	CGC		0.627	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		7	121	0	0	0	1	0	7	121				
PDZD2	23037	broad.mit.edu	37	5	32074069	32074069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:32074069C>T	ENST00000438447.1	+	18	3245	c.2857C>T	c.(2857-2859)Cga>Tga	p.R953*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.R953*			O15018	PDZD2_HUMAN	PDZ domain containing 2	953					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACAGGCCCTCCGAAACCCTCT	0.592																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(2857-2859)Cga>Tga		PDZ domain containing 2							56.0	61.0	60.0					5																	32074069		2203	4300	6503	SO:0001587	stop_gained	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32074069C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2857C>T	5.37:g.32074069C>T	ENSP00000402033:p.Arg953*					PDZD2_ENST00000282493.3_Nonsense_Mutation_p.R953*	p.R953*			O15018	PDZD2_HUMAN			18	3245	+			953					Q9BXD4	Nonsense_Mutation	SNP	ENST00000438447.1	37	c.2857C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	44	11.157591	0.99524	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	.	.	.	5.78	4.87	0.63330	.	0.000000	0.44285	D	0.000479	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6852	0.56944	0.2:0.8:0.0:0.0	.	.	.	.	X	953;755;953	.	ENSP00000282493:R953X	R	+	1	2	PDZD2	32109826	1.000000	0.71417	0.979000	0.43373	0.968000	0.65278	3.834000	0.55798	1.339000	0.45563	0.563000	0.77884	CGA		0.592	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			10	96	0	0	0	1	0	10	96				
FILIP1	27145	broad.mit.edu	37	6	76022999	76022999	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:76022999G>A	ENST00000237172.7	-	5	2879	c.2549C>T	c.(2548-2550)tCt>tTt	p.S850F	FILIP1_ENST00000370020.1_Missense_Mutation_p.S751F|FILIP1_ENST00000393004.2_Missense_Mutation_p.S850F|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	850										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TAGAACAGAAGATCTTTCCAC	0.448																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2548-2550)tCt>tTt		filamin A interacting protein 1							115.0	126.0	122.0					6																	76022999		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022999G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2549C>T	6.37:g.76022999G>A	ENSP00000237172:p.Ser850Phe					FILIP1_ENST00000370020.1_Missense_Mutation_p.S751F|FILIP1_ENST00000237172.7_Missense_Mutation_p.S850F|FILIP1_ENST00000498523.1_5'UTR	p.S850F			Q7Z7B0	FLIP1_HUMAN			5	2770	-			850					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2549C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	9.355	1.066576	0.20067	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.20463	2.08;2.07;2.08	5.66	4.77	0.60923	.	0.082700	0.52532	D	0.000072	T	0.13670	0.0331	L	0.36672	1.1	0.20703	N	0.999865	B;P;P	0.44006	0.379;0.731;0.824	B;B;P	0.47299	0.219;0.418;0.543	T	0.02893	-1.1097	10	0.72032	D	0.01	-2.021	15.7844	0.78291	0.0:0.0:0.8627:0.1373	.	850;850;850	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	F	850;850;751	ENSP00000376728:S850F;ENSP00000237172:S850F;ENSP00000359037:S751F	ENSP00000237172:S850F	S	-	2	0	FILIP1	76079719	1.000000	0.71417	0.574000	0.28523	0.339000	0.28857	4.576000	0.60915	1.359000	0.45940	0.563000	0.77884	TCT		0.448	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		64	107	0	0	0	1	0	64	107				
MPEG1	219972	broad.mit.edu	37	11	58979418	58979418	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:58979418G>C	ENST00000361050.3	-	1	1006	c.921C>G	c.(919-921)ggC>ggG	p.G307G	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	307	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GCAGCGGCAGGCCAGAGCGGT	0.582																																						ENST00000361050.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(919-921)ggC>ggG		macrophage expressed 1							29.0	28.0	28.0					11																	58979418		1882	4067	5949	SO:0001819	synonymous_variant	219972					integral to membrane		g.chr11:58979418G>C	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.921C>G	11.37:g.58979418G>C							p.G307G	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	1006	-		all_epithelial(135;0.125)	307			MACPF.		Q2M1T6|Q8TEF8	Silent	SNP	ENST00000361050.3	37	c.921C>G	CCDS41650.1																																																																																				0.582	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		8	35	0	0	0	1	0	8	35				
SGK223	157285	broad.mit.edu	37	8	8234217	8234217	+	Missense_Mutation	SNP	G	G	C	rs373458829	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:8234217G>C	ENST00000520004.1	-	3	1966	c.1702C>G	c.(1702-1704)Ctg>Gtg	p.L568V	SGK223_ENST00000330777.4_Missense_Mutation_p.L568V			Q86YV5	SG223_HUMAN		570							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										AGGTCAGCCAGCGGTGACACT	0.662																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(1702-1704)Ctg>Gtg									24.0	29.0	27.0					8																	8234217		2022	4154	6176	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8234217G>C																												ENST00000520004.1:c.1702C>G	8.37:g.8234217G>C	ENSP00000428054:p.Leu568Val					SGK223_ENST00000330777.4_Missense_Mutation_p.L568V	p.L568V			Q86YV5	SG223_HUMAN			3	1966	-			568					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.1702C>G	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238781	0.22711	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.61274	0.12;0.12	4.91	3.08	0.35506	.	0.238378	0.27354	N	0.019749	T	0.47078	0.1426	M	0.62723	1.935	0.09310	N	1	B	0.19706	0.038	B	0.16289	0.015	T	0.28170	-1.0052	10	0.11794	T	0.64	.	7.7981	0.29158	0.1664:0.1484:0.6852:0.0	.	568	Q86YV5	SG223_HUMAN	V	568	ENSP00000330930:L568V;ENSP00000428054:L568V	ENSP00000330930:L568V	L	-	1	2	AC068353.1	8271627	0.001000	0.12720	0.003000	0.11579	0.002000	0.02628	0.455000	0.21843	1.216000	0.43427	-0.251000	0.11542	CTG		0.662	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			19	87	0	0	0	1	0	19	87				
AP3D1	8943	broad.mit.edu	37	19	2110192	2110192	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:2110192G>C	ENST00000345016.5	-	26	3252	c.3021C>G	c.(3019-3021)acC>acG	p.T1007T	AP3D1_ENST00000355272.6_Silent_p.T1069T|AP3D1_ENST00000356926.4_Silent_p.T966T|AP3D1_ENST00000350812.6_Silent_p.T838T	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1007					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTCTGGATGGTGAACACAT	0.637																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(3205-3207)acC>acG		adaptor-related protein complex 3, delta 1 subunit							73.0	73.0	73.0					19																	2110192		2036	4183	6219	SO:0001819	synonymous_variant	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2110192G>C	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.3021C>G	19.37:g.2110192G>C						AP3D1_ENST00000345016.5_Silent_p.T1007T|AP3D1_ENST00000356926.4_Silent_p.T966T|AP3D1_ENST00000350812.6_Silent_p.T838T	p.T1069T	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	28	3413	-		Hepatocellular(1079;0.137)	1007					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	c.3207C>G	CCDS42459.1																																																																																				0.637	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			5	63	0	0	0	1	0	5	63				
SELPLG	6404	broad.mit.edu	37	12	109018036	109018036	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:109018036G>C	ENST00000550948.1	-	2	272	c.48C>G	c.(46-48)aaC>aaG	p.N16K	SELPLG_ENST00000388962.3_Missense_Mutation_p.N16K|SELPLG_ENST00000228463.6_Missense_Mutation_p.N32K			Q14242	SELPL_HUMAN	selectin P ligand	16					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCTGCAAGCTGTTGCCAGGGC	0.592																																						ENST00000388962.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						c.(46-48)aaC>aaG		selectin P ligand							49.0	51.0	51.0					12																	109018036		2203	4300	6503	SO:0001583	missense	6404				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	g.chr12:109018036G>C		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.48C>G	12.37:g.109018036G>C	ENSP00000447752:p.Asn16Lys					SELPLG_ENST00000228463.6_Missense_Mutation_p.N32K|SELPLG_ENST00000550948.1_Missense_Mutation_p.N16K	p.N16K	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN			2	207	-			16					A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Missense_Mutation	SNP	ENST00000550948.1	37	c.48C>G	CCDS31895.2	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657300	0.29425	.	.	ENSG00000110876	ENST00000388962;ENST00000550948;ENST00000228463	T;T;T	0.34072	1.39;1.41;1.38	3.36	1.54	0.23209	.	0.861426	0.09686	N	0.769110	T	0.22936	0.0554	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.004;0.004	T	0.23940	-1.0174	10	0.62326	D	0.03	-1.054	6.7212	0.23330	0.3056:0.0:0.6944:0.0	.	32;16;16	B7Z5C7;Q14242;B4DHR9	.;SELPL_HUMAN;.	K	16;16;32	ENSP00000373614:N16K;ENSP00000447752:N16K;ENSP00000228463:N32K	ENSP00000228463:N32K	N	-	3	2	SELPLG	107542165	0.002000	0.14202	0.068000	0.19968	0.232000	0.25224	0.795000	0.26972	0.451000	0.26802	0.561000	0.74099	AAC		0.592	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			13	34	0	0	0	1	0	13	34				
NKAP	79576	broad.mit.edu	37	X	119077437	119077437	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:119077437C>A	ENST00000371410.3	-	1	298	c.132G>T	c.(130-132)tcG>tcT	p.S44S		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	44	Ser-rich.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						AGCAAGAGTGCGAGCGAGAGC	0.677																																						ENST00000371410.3																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						c.(130-132)tcG>tcT		NFKB activating protein							23.0	26.0	25.0					X																	119077437		2202	4300	6502	SO:0001819	synonymous_variant	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119077437C>A	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.132G>T	X.37:g.119077437C>A							p.S44S	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN			1	298	-			44			Ser-rich.		Q6IPW6|Q96BQ2|Q9H638	Silent	SNP	ENST00000371410.3	37	c.132G>T	CCDS14592.1																																																																																				0.677	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		14	24	1	0	6.72482e-11	1	7.56939e-11	14	24				
ALOX15B	247	broad.mit.edu	37	17	7951880	7951880	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:7951880C>G	ENST00000380183.4	+	14	2167	c.2028C>G	c.(2026-2028)atC>atG	p.I676M	ALOX15B_ENST00000573359.1_Missense_Mutation_p.I602M|ALOX15B_ENST00000572022.1_Missense_Mutation_p.I664M|ALOX15B_ENST00000380173.2_Missense_Mutation_p.I647M	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	676	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.		I -> V (in dbSNP:rs7225107).		apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCGTCTCCATCTAAATCCCAG	0.577																																						ENST00000380183.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						c.(2026-2028)atC>atG		arachidonate 15-lipoxygenase, type B							89.0	88.0	88.0					17																	7951880		2203	4300	6503	SO:0001583	missense	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7951880C>G	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.2028C>G	17.37:g.7951880C>G	ENSP00000369530:p.Ile676Met					ALOX15B_ENST00000572022.1_Missense_Mutation_p.I664M|ALOX15B_ENST00000380173.2_Missense_Mutation_p.I647M|ALOX15B_ENST00000573359.1_Missense_Mutation_p.I602M	p.I676M	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN			14	2167	+			676		I -> V (in dbSNP:rs7225107).	Lipoxygenase.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	c.2028C>G	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498863	0.64298	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	D;D	0.95756	-3.8;-3.8	3.76	3.76	0.43208	Lipoxygenase, C-terminal (2);	0.049400	0.85682	D	0.000000	D	0.98096	0.9372	H	0.94503	3.545	0.58432	D	0.999999	D;D;D;D	0.64830	0.989;0.994;0.994;0.989	P;D;D;P	0.66602	0.883;0.945;0.945;0.883	D	0.99201	1.0873	10	0.87932	D	0	.	14.8492	0.70284	0.0:1.0:0.0:0.0	.	664;602;647;676	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	M	647;602;676	ENSP00000369520:I647M;ENSP00000369530:I676M	ENSP00000344337:I602M	I	+	3	3	ALOX15B	7892605	0.997000	0.39634	0.992000	0.48379	0.570000	0.35934	0.460000	0.21924	2.093000	0.63338	0.462000	0.41574	ATC		0.577	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			4	57	0	0	0	1	0	4	57				
BMP1	649	broad.mit.edu	37	8	22020624	22020624	+	5'Flank	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:22020624C>G	ENST00000306385.5	+	0	0				BMP1_ENST00000397816.3_5'Flank|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000522109.1_Missense_Mutation_p.A78G|SFTPC_ENST00000521315.1_Missense_Mutation_p.A78G|SFTPC_ENST00000318561.3_Missense_Mutation_p.A78G|SFTPC_ENST00000520605.1_Missense_Mutation_p.A25G|SFTPC_ENST00000524255.1_Missense_Mutation_p.A25G|SFTPC_ENST00000437090.2_Missense_Mutation_p.A78G|BMP1_ENST00000397814.3_5'Flank|BMP1_ENST00000306349.8_5'Flank	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCGCCGGAAGCCCAGCAACGC	0.607																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(232-234)gCc>gGc		surfactant protein C							88.0	100.0	96.0					8																	22020624		2081	4203	6284	SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22020624C>G		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020624C>G	Exception_encountered					SFTPC_ENST00000437090.2_Missense_Mutation_p.A78G|SFTPC_ENST00000524255.1_Missense_Mutation_p.A25G|SFTPC_ENST00000318561.3_Missense_Mutation_p.A78G|SFTPC_ENST00000522109.1_Missense_Mutation_p.A78G|SFTPC_ENST00000520605.1_Missense_Mutation_p.A25G	p.A78G			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	3	265	+			78					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.233C>G	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954453	0.34471	.	.	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000437090;ENST00000520605;ENST00000522109;ENST00000524255;ENST00000523296;ENST00000518615	D;D;D;D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-3.17;-3.17;-3.17;-3.17	4.68	2.84	0.33178	Surfactant protein C, N-terminal propeptide (1);	0.720818	0.12549	N	0.459210	D	0.87192	0.6116	L	0.44542	1.39	0.24330	N	0.995005	B;B;B;P;B	0.37061	0.007;0.437;0.202;0.58;0.201	B;B;B;B;B	0.34452	0.006;0.183;0.183;0.183;0.138	T	0.75783	-0.3196	10	0.14656	T	0.56	-10.0049	6.8062	0.23779	0.0:0.7909:0.0:0.2091	.	78;78;78;78;78	P11686-2;E9PGX3;C9JYF6;P11686;E5RI92	.;.;.;PSPC_HUMAN;.	G	78;78;78;25;78;25;25;78	ENSP00000316152:A78G;ENSP00000430410:A78G;ENSP00000407931:A78G;ENSP00000430266:A25G;ENSP00000429496:A78G;ENSP00000429552:A25G;ENSP00000429619:A25G;ENSP00000428817:A78G	ENSP00000316152:A78G	A	+	2	0	SFTPC	22076569	0.971000	0.33674	0.998000	0.56505	0.339000	0.28857	0.807000	0.27140	1.290000	0.44636	0.655000	0.94253	GCC		0.607	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		11	140	0	0	0	1	0	11	140				
SCN5A	6331	broad.mit.edu	37	3	38648258	38648258	+	Missense_Mutation	SNP	G	G	T	rs375386714		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:38648258G>T	ENST00000333535.4	-	9	1191	c.1042C>A	c.(1042-1044)Ccc>Acc	p.P348T	SCN5A_ENST00000449557.2_Missense_Mutation_p.P348T|SCN5A_ENST00000414099.2_Missense_Mutation_p.P348T|SCN5A_ENST00000423572.2_Missense_Mutation_p.P348T|SCN5A_ENST00000455624.2_Missense_Mutation_p.P348T|SCN5A_ENST00000443581.1_Missense_Mutation_p.P348T|SCN5A_ENST00000425664.1_Missense_Mutation_p.P348T|SCN5A_ENST00000450102.2_Missense_Mutation_p.P348T|SCN5A_ENST00000413689.1_Missense_Mutation_p.P348T|SCN5A_ENST00000451551.2_Missense_Mutation_p.P348T			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	348					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CCGTGGTCGGGGTTCTCGCCT	0.602																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(1042-1044)Ccc>Acc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						91.0	112.0	105.0					3																	38648258		2058	4212	6270	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38648258G>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1042C>A	3.37:g.38648258G>T	ENSP00000328968:p.Pro348Thr					SCN5A_ENST00000455624.2_Missense_Mutation_p.P348T|SCN5A_ENST00000451551.2_Missense_Mutation_p.P348T|SCN5A_ENST00000333535.4_Missense_Mutation_p.P348T|SCN5A_ENST00000425664.1_Missense_Mutation_p.P348T|SCN5A_ENST00000450102.2_Missense_Mutation_p.P348T|SCN5A_ENST00000443581.1_Missense_Mutation_p.P348T|SCN5A_ENST00000449557.2_Missense_Mutation_p.P348T|SCN5A_ENST00000423572.2_Missense_Mutation_p.P348T|SCN5A_ENST00000414099.2_Missense_Mutation_p.P348T	p.P348T	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	9	1235	-	Medulloblastoma(35;0.163)		348					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.1042C>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077754	0.76528	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1	4.73	4.73	0.59995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99573	0.9846	H	0.99090	4.425	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.98;1.0;0.996	D;D;D;P;D;D	0.91635	0.999;0.999;0.999;0.858;0.999;0.909	D	0.97506	1.0063	10	0.87932	D	0	.	17.9036	0.88912	0.0:0.0:1.0:0.0	.	348;348;348;348;348;348	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	T	348	ENSP00000398962:P348T;ENSP00000398266:P348T;ENSP00000410257:P348T;ENSP00000388797:P348T;ENSP00000397915:P348T;ENSP00000416634:P348T;ENSP00000328968:P348T;ENSP00000399524:P348T;ENSP00000403355:P348T;ENSP00000413996:P348T	ENSP00000328968:P348T	P	-	1	0	SCN5A	38623262	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	9.601000	0.98297	2.462000	0.83206	0.557000	0.71058	CCC		0.602	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		31	56	1	0	1.68575e-08	1	1.86238e-08	31	56				
ZNF572	137209	broad.mit.edu	37	8	125989424	125989424	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:125989424G>C	ENST00000319286.5	+	3	1068	c.914G>C	c.(913-915)tGt>tCt	p.C305S		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	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)			TGTCTTGAGTGTGAAAAAAGC	0.408										HNSCC(60;0.17)																												ENST00000319286.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31						c.(913-915)tGt>tCt		zinc finger protein 572							52.0	54.0	53.0					8																	125989424		2203	4298	6501	SO:0001583	missense	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125989424G>C	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.914G>C	8.37:g.125989424G>C	ENSP00000319305:p.Cys305Ser	HNSCC(60;0.17)					p.C305S	NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	1068	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		305					A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	c.914G>C	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879929	0.72294	.	.	ENSG00000180938	ENST00000319286	D	0.85861	-2.04	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000084	D	0.94857	0.8338	H	0.96720	3.87	0.45272	D	0.998279	D	0.89917	1.0	D	0.81914	0.995	D	0.96341	0.9251	10	0.87932	D	0	-11.7442	15.396	0.74794	0.0:0.0:1.0:0.0	.	305	Q7Z3I7	ZN572_HUMAN	S	305	ENSP00000319305:C305S	ENSP00000319305:C305S	C	+	2	0	ZNF572	126058605	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	9.494000	0.97962	2.495000	0.84180	0.655000	0.94253	TGT		0.408	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		6	100	0	0	0	1	0	6	100				
KIF2B	84643	broad.mit.edu	37	17	51900705	51900705	+	Missense_Mutation	SNP	C	C	T	rs371085430		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:51900705C>T	ENST00000268919.4	+	1	467	c.311C>T	c.(310-312)tCg>tTg	p.S104L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	104					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCGCCCTCTTCGGCCATCAGG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		15275	0.001		0.0	False		,,,				2504	0.0					ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(310-312)tCg>tTg		kinesin family member 2B		C	LEU/SER	0,4406		0,0,2203	89.0	98.0	95.0		311	2.9	0.0	17		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF2B	NM_032559.4	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	104/674	51900705	1,13005	2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900705C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.311C>T	17.37:g.51900705C>T	ENSP00000268919:p.Ser104Leu						p.S104L	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	467	+			104					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.311C>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	2.386	-0.340855	0.05243	0.0	1.16E-4	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74106	-0.81	4.96	2.93	0.34026	.	1.236910	0.06126	U	0.669728	T	0.64605	0.2613	L	0.49778	1.585	0.09310	N	1	P	0.37731	0.607	B	0.29785	0.107	T	0.49844	-0.8896	10	0.23891	T	0.37	.	7.475	0.27371	0.1646:0.7497:0.0:0.0857	.	104	Q8N4N8	KIF2B_HUMAN	L	104;27	ENSP00000268919:S104L	ENSP00000268919:S104L	S	+	2	0	KIF2B	49255704	0.004000	0.15560	0.001000	0.08648	0.003000	0.03518	1.901000	0.39838	0.763000	0.33175	0.655000	0.94253	TCG		0.612	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		4	175	0	0	0	1	0	4	175				
TRGV5	6978	broad.mit.edu	37	7	38389538	38389538	+	RNA	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:38389538T>A	ENST00000390344.2	-	0	85									T cell receptor gamma variable 5																		CAGAAGACAGTAGGAGGAGCT	0.557																																						ENST00000390344.2																			0																																																			6978							g.chr7:38389538T>A	M36286		7p14	2012-02-07				ENSG00000211697		"""T cell receptors / TRG locus"""	12290	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V5"""			TCRGV5		2902186, 2969332	Standard	NG_001336		Approved	V1S5			OTTHUMG00000155101		7.37:g.38389538T>A														0	85	-									RNA	SNP	ENST00000390344.2	37																																																																																						0.557	TRGV5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338407.4	NG_001336		3	6	0	0	0	1	0	3	6				
LIG1	3978	broad.mit.edu	37	19	48646858	48646858	+	Splice_Site	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:48646858T>C	ENST00000263274.7	-	11	1277		c.e11-2		LIG1_ENST00000427526.2_Splice_Site|CTC-453G23.4_ENST00000594589.1_RNA|LIG1_ENST00000536218.1_Splice_Site	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent						anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TAAGGAACCCTAGGGAAGGAA	0.602								Nucleotide excision repair (NER)																														ENST00000263274.7																			0				breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.e11-2	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						87.0	97.0	94.0					19																	48646858		2203	4300	6503	SO:0001630	splice_region_variant	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48646858T>C		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.858-2A>G	19.37:g.48646858T>C						LIG1_ENST00000427526.2_Splice_Site|LIG1_ENST00000536218.1_Splice_Site		NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	11	1277	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)						B2RAI8|Q2TB12|Q32P23	Splice_Site	SNP	ENST00000263274.7	37		CCDS12711.1	.	.	.	.	.	.	.	.	.	.	T	10.73	1.433782	0.25813	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218;ENST00000542460	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1958	0.54296	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LIG1	53338670	1.000000	0.71417	0.855000	0.33649	0.057000	0.15508	4.980000	0.63812	1.920000	0.55613	0.533000	0.62120	.		0.602	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234	Intron	38	61	0	0	0	1	0	38	61				
PSMD2	5708	broad.mit.edu	37	3	184023942	184023942	+	Splice_Site	SNP	A	A	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:184023942A>C	ENST00000310118.4	+	14	2361	c.1803A>C	c.(1801-1803)gcA>gcC	p.A601A	PSMD2_ENST00000435761.1_Splice_Site_p.A442A|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Splice_Site_p.A471A	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	601					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GTGCATATGCAGGTCTGTGTC	0.498											OREG0015947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(24;313 636 6917 9932 15554)	ENST00000310118.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27						c.e14+1		proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	Bortezomib(DB00188)						120.0	90.0	100.0					3																	184023942		2203	4300	6503	SO:0001630	splice_region_variant	5708				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184023942A>C	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.1804+1A>C	3.37:g.184023942A>C			OREG0015947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1988	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Splice_Site_p.A471_splice|PSMD2_ENST00000435761.1_Splice_Site_p.A442_splice	p.A601_splice	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		14	2361	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		601					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Splice_Site	SNP	ENST00000310118.4	37	c.1804_splice	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792678	0.50102	.	.	ENSG00000175166	ENST00000432855	.	.	.	6.0	6.0	0.97389	.	.	.	.	.	T	0.60392	0.2265	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60291	-0.7292	4	.	.	.	-11.4399	8.6981	0.34310	0.7409:0.1324:0.0:0.1267	.	.	.	.	P	62	.	.	Q	+	2	0	PSMD2	185506636	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.146000	0.42216	2.303000	0.77524	0.491000	0.48974	CAG		0.498	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808	Silent	28	50	0	0	0	1	0	28	50				
SYNE1	23345	broad.mit.edu	37	6	152651592	152651592	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:152651592G>T	ENST00000367255.5	-	78	14829	c.14228C>A	c.(14227-14229)aCa>aAa	p.T4743K	SYNE1_ENST00000448038.1_Missense_Mutation_p.T4672K|SYNE1_ENST00000423061.1_Missense_Mutation_p.T4672K|SYNE1_ENST00000341594.5_Missense_Mutation_p.T4490K|SYNE1_ENST00000265368.4_Missense_Mutation_p.T4743K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4743					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGCTGACCTGTGCTGCGAAA	0.517										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(14227-14229)aCa>aAa		spectrin repeat containing, nuclear envelope 1							89.0	94.0	92.0					6																	152651592		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152651592G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14228C>A	6.37:g.152651592G>T	ENSP00000356224:p.Thr4743Lys	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.T4743K|SYNE1_ENST00000448038.1_Missense_Mutation_p.T4672K|SYNE1_ENST00000423061.1_Missense_Mutation_p.T4672K|SYNE1_ENST00000341594.5_Missense_Mutation_p.T4490K	p.T4743K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	14829	-		Ovarian(120;0.0955)	4743					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.14228C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660861	0.29515	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000006	T	0.26268	0.0641	L	0.52573	1.65	0.80722	D	1	P;B;B;B	0.35656	0.514;0.209;0.209;0.314	B;B;B;B	0.34652	0.187;0.02;0.02;0.075	T	0.06552	-1.0820	10	0.10111	T	0.7	.	15.5977	0.76599	0.0:0.137:0.863:0.0	.	4743;4743;4743;4672	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	4743;4672;4743;4672;4490	ENSP00000356224:T4743K;ENSP00000396024:T4672K;ENSP00000265368:T4743K;ENSP00000390975:T4672K;ENSP00000341887:T4490K	ENSP00000265368:T4743K	T	-	2	0	SYNE1	152693285	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	6.573000	0.74009	2.767000	0.95098	0.591000	0.81541	ACA		0.517	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		37	39	1	0	4.92203e-23	1	6.06373e-23	37	39				
SCRG1	11341	broad.mit.edu	37	4	174312580	174312580	+	Splice_Site	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:174312580C>G	ENST00000296506.3	-	2	469		c.e2-1			NM_007281.2	NP_009212.1	O75711	SCRG1_HUMAN	stimulator of chondrogenesis 1						nervous system development (GO:0007399)	extracellular space (GO:0005615)				large_intestine(1)|lung(4)|skin(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		GCTTTTGGCCCTGAAATAGAA	0.383																																						ENST00000296506.2																			0				large_intestine(1)|lung(4)|skin(1)	6						c.e2-1		stimulator of chondrogenesis 1							112.0	106.0	108.0					4																	174312580		2203	4300	6503	SO:0001630	splice_region_variant	11341				nervous system development	extracellular space		g.chr4:174312580C>G	AJ224677	CCDS3818.1	4q34.1	2009-07-09				ENSG00000164106			17036	protein-coding gene	gene with protein product	"""scrapie responsive gene 1"""	603163				9660755, 9516475	Standard	NM_007281		Approved	SCRG-1	uc003ite.3	O75711		ENST00000296506.3:c.14-1G>C	4.37:g.174312580C>G								NM_007281.2	NP_009212.1	O75711	SCRG1_HUMAN		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)	2	469	-		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)							Splice_Site	SNP	ENST00000296506.3	37		CCDS3818.1																																																																																				0.383	SCRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364304.2	NM_007281	Intron	20	82	0	0	0	1	0	20	82				
GRN	2896	broad.mit.edu	37	17	42428423	42428423	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:42428423C>G	ENST00000053867.3	+	8	789	c.727C>G	c.(727-729)Cac>Gac	p.H243D	GRN_ENST00000589923.1_3'UTR|GRN_ENST00000589265.1_Intron	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	243					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTGCTCCGATCACCTGCACTG	0.607											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000053867.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(727-729)Cac>Gac		granulin							95.0	85.0	88.0					17																	42428423		2203	4300	6503	SO:0001583	missense	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42428423C>G	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.727C>G	17.37:g.42428423C>G	ENSP00000053867:p.His243Asp		OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	908	GRN_ENST00000589265.1_Intron|GRN_ENST00000589923.1_3'UTR	p.H243D	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	8	789	+		Prostate(33;0.0181)	243					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	ENST00000053867.3	37	c.727C>G	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016169	0.54468	.	.	ENSG00000030582	ENST00000053867;ENST00000357351	T	0.72835	-0.69	4.65	4.65	0.58169	Granulin (3);	0.261944	0.32231	N	0.006393	D	0.83216	0.5206	M	0.86097	2.795	0.80722	D	1	D;P	0.71674	0.998;0.947	D;P	0.69824	0.966;0.849	T	0.81355	-0.0970	10	0.16896	T	0.51	-26.4856	15.0524	0.71885	0.0:1.0:0.0:0.0	.	180;243	B4DJI2;P28799	.;GRN_HUMAN	D	243	ENSP00000053867:H243D	ENSP00000053867:H243D	H	+	1	0	GRN	39783949	0.146000	0.22672	1.000000	0.80357	0.527000	0.34593	1.245000	0.32790	2.398000	0.81561	0.313000	0.20887	CAC		0.607	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		7	79	0	0	0	1	0	7	79				
ABCA17P	650655	broad.mit.edu	37	16	2436135	2436135	+	RNA	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:2436135G>C	ENST00000469908.1	+	0	1390					NR_003574.1				ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene																		GAAGTGCCCTGAAGTCAAGCA	0.622																																						ENST00000469908.1																			0																																																			650655							g.chr16:2436135G>C	DQ266102		16p13.3	2012-03-14	2010-03-12		ENSG00000238098	ENSG00000238098		"""ATP binding cassette transporters / subfamily A"""	32972	pseudogene	pseudogene						16968533	Standard	NR_003574		Approved		uc002cqc.1		OTTHUMG00000154348		16.37:g.2436135G>C								NR_003574.1						0	1390	+									RNA	SNP	ENST00000469908.1	37																																																																																						0.622	ABCA17P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000334904.1	NR_003574		4	93	0	0	0	1	0	4	93				
BCR	613	broad.mit.edu	37	22	23603645	23603645	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:23603645A>G	ENST00000305877.8	+	4	2421	c.1670A>G	c.(1669-1671)cAc>cGc	p.H557R	RN7SL263P_ENST00000467969.2_RNA|BCR_ENST00000359540.3_Missense_Mutation_p.H557R	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	557	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	TACGAGATCCACAAGGAGTTC	0.592			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	ENST00000305877.8				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	"""ABL1,  FGFR1, JAK2 """		"""CML, ALL, AML"""	BCR/JAK2(6)	0				central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						c.(1669-1671)cAc>cGc		breakpoint cluster region							68.0	73.0	71.0					22																	23603645		2203	4300	6503	SO:0001583	missense	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23603645A>G		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1670A>G	22.37:g.23603645A>G	ENSP00000303507:p.His557Arg					BCR_ENST00000359540.3_Missense_Mutation_p.H557R	p.H557R	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN			4	2421	+			557			DH.		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	c.1670A>G	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	A	31	5.103320	0.94245	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149;ENST00000427791	T;T;T	0.55234	0.53;0.53;0.53	5.35	5.35	0.76521	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.79347	0.4430	M	0.93638	3.44	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	D	0.85121	0.0969	9	.	.	.	.	14.8189	0.70055	1.0:0.0:0.0:0.0	.	146;222;557;557	B4E065;Q12843;P11274-2;P11274	.;.;.;BCR_HUMAN	R	557;557;222;77	ENSP00000303507:H557R;ENSP00000352535:H557R;ENSP00000396531:H77R	.	H	+	2	0	BCR	21933645	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.974000	0.93433	2.154000	0.67381	0.533000	0.62120	CAC		0.592	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		49	71	0	0	0	1	0	49	71				
KLK13	26085	broad.mit.edu	37	19	51559848	51559848	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:51559848T>C	ENST00000595793.1	-	5	872	c.830A>G	c.(829-831)cAa>cGa	p.Q277R	KLK13_ENST00000595547.1_Missense_Mutation_p.Q204R|KLK13_ENST00000335422.3_Missense_Mutation_p.Q125R	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	277					protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		CAACTTTTATTGTGGGCCCTT	0.483																																						ENST00000595793.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16						c.(829-831)cAa>cGa		kallikrein-related peptidase 13							244.0	220.0	228.0					19																	51559848		2203	4300	6503	SO:0001583	missense	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51559848T>C		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.830A>G	19.37:g.51559848T>C	ENSP00000470555:p.Gln277Arg					KLK13_ENST00000335422.3_Missense_Mutation_p.Q125R|KLK13_ENST00000595547.1_Missense_Mutation_p.Q204R	p.Q277R	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	5	872	-		all_neural(266;0.026)	277					A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	c.830A>G	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.274180	0.59649	.	.	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.90197	-2.63	4.07	3.04	0.35103	.	0.344301	0.20959	N	0.082590	T	0.77791	0.4183	N	0.08118	0	0.19300	N	0.999974	B;B;B	0.26002	0.139;0.139;0.139	B;B;B	0.19666	0.026;0.026;0.026	T	0.69379	-0.5161	10	0.87932	D	0	.	6.09	0.19989	0.0:0.119:0.0:0.881	.	125;204;277	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	R	277;125	ENSP00000334079:Q125R	ENSP00000156476:Q277R	Q	-	2	0	KLK13	56251660	0.010000	0.17322	0.002000	0.10522	0.278000	0.26855	1.498000	0.35660	0.743000	0.32719	0.456000	0.33151	CAA		0.483	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		5	193	0	0	0	1	0	5	193				
ADAMTS14	140766	broad.mit.edu	37	10	72511362	72511362	+	Silent	SNP	G	G	C	rs115166776	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:72511362G>C	ENST00000373207.1	+	17	2556	c.2556G>C	c.(2554-2556)gcG>gcC	p.A852A	ADAMTS14_ENST00000373208.1_Silent_p.A855A	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	852	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ATGAGTGGGCGCTCAAGAGCT	0.617																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2563-2565)gcG>gcC		ADAM metallopeptidase with thrombospondin type 1 motif, 14							59.0	61.0	60.0					10																	72511362		2203	4300	6503	SO:0001819	synonymous_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72511362G>C	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2556G>C	10.37:g.72511362G>C						ADAMTS14_ENST00000373207.1_Silent_p.A852A	p.A855A	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			17	2565	+			852			TSP type-1 2.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	c.2565G>C	CCDS7306.1																																																																																				0.617	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		12	56	0	0	0	1	0	12	56				
DOPEY1	23033	broad.mit.edu	37	6	83847178	83847178	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:83847178G>C	ENST00000349129.2	+	21	3677	c.3417G>C	c.(3415-3417)atG>atC	p.M1139I	DOPEY1_ENST00000237163.5_Missense_Mutation_p.M1120I|DOPEY1_ENST00000369739.3_Missense_Mutation_p.M1130I	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1139					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATTCTCAAATGCCCAAGGAAA	0.453																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(3415-3417)atG>atC		dopey family member 1							68.0	67.0	68.0					6																	83847178		2203	4299	6502	SO:0001583	missense	23033				protein transport			g.chr6:83847178G>C	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3417G>C	6.37:g.83847178G>C	ENSP00000195654:p.Met1139Ile					DOPEY1_ENST00000369739.3_Missense_Mutation_p.M1130I|DOPEY1_ENST00000237163.5_Missense_Mutation_p.M1120I	p.M1139I	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	3677	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1139					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.3417G>C	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	0.315	-0.965677	0.02249	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.21191	2.02;2.02	5.69	2.61	0.31194	.	0.789146	0.12924	N	0.427966	T	0.02455	0.0075	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.46456	-0.9190	10	0.17832	T	0.49	.	4.6924	0.12786	0.0802:0.2006:0.5403:0.1789	.	1030;1130;1139	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	I	1139;1120;1120	ENSP00000195654:M1139I;ENSP00000237163:M1120I	ENSP00000237163:M1120I	M	+	3	0	DOPEY1	83903897	0.000000	0.05858	0.042000	0.18584	0.508000	0.34012	0.059000	0.14322	0.749000	0.32854	0.460000	0.39030	ATG		0.453	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		20	44	0	0	0	1	0	20	44				
MPEG1	219972	broad.mit.edu	37	11	58979086	58979086	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:58979086G>A	ENST00000361050.3	-	1	1338	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	418						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CAGGTGCACCGGGGAGTAGCC	0.537																																						ENST00000361050.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1252-1254)cCg>cTg		macrophage expressed 1							67.0	66.0	66.0					11																	58979086		1920	4138	6058	SO:0001583	missense	219972					integral to membrane		g.chr11:58979086G>A	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1253C>T	11.37:g.58979086G>A	ENSP00000354335:p.Pro418Leu						p.P418L	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	1338	-		all_epithelial(135;0.125)	418					Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.1253C>T	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.679363	0.29783	.	.	ENSG00000197629	ENST00000361050	T	0.41065	1.01	5.73	4.82	0.62117	.	0.248180	0.40469	N	0.001089	T	0.44329	0.1288	M	0.74881	2.28	0.19300	N	0.999971	B	0.17465	0.022	B	0.08055	0.003	T	0.46148	-0.9212	10	0.72032	D	0.01	-1.3455	12.1383	0.53984	0.0806:0.0:0.9194:0.0	.	418	Q2M385	MPEG1_HUMAN	L	418	ENSP00000354335:P418L	ENSP00000354335:P418L	P	-	2	0	MPEG1	58735662	0.998000	0.40836	0.003000	0.11579	0.001000	0.01503	8.781000	0.91805	1.441000	0.47550	-0.150000	0.13652	CCG		0.537	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		11	55	0	0	0	1	0	11	55				
CACNG4	27092	broad.mit.edu	37	17	65026938	65026938	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:65026938G>C	ENST00000262138.3	+	4	804	c.802G>C	c.(802-804)Gcc>Ccc	p.A268P	RP11-74H8.1_ENST00000579138.1_RNA|AC005544.1_ENST00000375684.1_5'Flank	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	268					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GATCACAGGGGCCATCCCCAT	0.672																																						ENST00000262138.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19						c.(802-804)Gcc>Ccc		calcium channel, voltage-dependent, gamma subunit 4							41.0	38.0	39.0					17																	65026938		2203	4300	6503	SO:0001583	missense	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:65026938G>C	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.802G>C	17.37:g.65026938G>C	ENSP00000262138:p.Ala268Pro						p.A268P	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		4	804	+	all_cancers(12;9.86e-11)		268					B2RCK0	Missense_Mutation	SNP	ENST00000262138.3	37	c.802G>C	CCDS11667.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992128	0.35131	.	.	ENSG00000075461	ENST00000262138	T	0.55588	0.51	5.15	4.12	0.48240	.	0.378792	0.23674	U	0.045699	T	0.28466	0.0704	N	0.12746	0.255	0.32588	N	0.527558	B	0.23735	0.09	B	0.24974	0.057	T	0.21245	-1.0251	10	0.27082	T	0.32	-19.5582	3.7613	0.08604	0.2002:0.0:0.4556:0.3441	.	268	Q9UBN1	CCG4_HUMAN	P	268	ENSP00000262138:A268P	ENSP00000262138:A268P	A	+	1	0	CACNG4	62457400	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.606000	0.36826	2.427000	0.82271	0.650000	0.86243	GCC		0.672	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		8	57	0	0	0	1	0	8	57				
ARRDC2	27106	broad.mit.edu	37	19	18119172	18119172	+	Missense_Mutation	SNP	C	C	T	rs200200467	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:18119172C>T	ENST00000222250.4	+	1	196	c.53C>T	c.(52-54)gCg>gTg	p.A18V	ARRDC2_ENST00000608009.1_Intron|ARRDC2_ENST00000379656.3_Intron	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	18					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GGCGCGACCGCGGGCGTCGAG	0.706																																						ENST00000222250.4																			0				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						c.(52-54)gCg>gTg		arrestin domain containing 2		C	,VAL/ALA	0,4158		0,0,2079	31.0	33.0	32.0		,53	-0.4	0.2	19		32	2,7972		0,2,3985	no	intron,missense	ARRDC2	NM_001025604.1,NM_015683.1	,64	0,2,6064	TT,TC,CC		0.0251,0.0,0.0165	,benign	,18/408	18119172	2,12130	2079	3987	6066	SO:0001583	missense	27106							g.chr19:18119172C>T		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.53C>T	19.37:g.18119172C>T	ENSP00000222250:p.Ala18Val					ARRDC2_ENST00000379656.2_Intron|ARRDC2_ENST00000595712.1_Intron	p.A18V	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN			1	196	+			18					B2RBG9|O95895|Q6ZRV9|Q8WYG6	Missense_Mutation	SNP	ENST00000222250.4	37	c.53C>T	CCDS12370.1	.	.	.	.	.	.	.	.	.	.	C	4.170	0.029995	0.08101	0.0	2.51E-4	ENSG00000105643	ENST00000222250	T	0.09163	3.01	3.12	-0.377	0.12501	.	1.227860	0.05640	N	0.583271	T	0.04952	0.0133	N	0.04880	-0.145	0.20074	N	0.999939	B	0.19817	0.039	B	0.13407	0.009	T	0.41251	-0.9519	10	0.28530	T	0.3	-5.3799	4.3268	0.11045	0.0:0.3108:0.3637:0.3255	.	18	Q8TBH0	ARRD2_HUMAN	V	18	ENSP00000222250:A18V	ENSP00000222250:A18V	A	+	2	0	ARRDC2	17980172	0.001000	0.12720	0.192000	0.23308	0.094000	0.18550	0.377000	0.20552	0.028000	0.15324	-0.275000	0.10095	GCG		0.706	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		12	27	0	0	0	1	0	12	27				
RYR3	6263	broad.mit.edu	37	15	33990092	33990092	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:33990092G>A	ENST00000389232.4	+	40	6214	c.6144G>A	c.(6142-6144)atG>atA	p.M2048I	RYR3_ENST00000415757.3_Missense_Mutation_p.M2048I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2048	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGACATAATGAACAACAAGG	0.458																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(6142-6144)atG>atA		ryanodine receptor 3							142.0	134.0	136.0					15																	33990092		2006	4196	6202	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33990092G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6144G>A	15.37:g.33990092G>A	ENSP00000373884:p.Met2048Ile					RYR3_ENST00000415757.3_Missense_Mutation_p.M2048I	p.M2048I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	40	6214	+		all_lung(180;7.18e-09)	2048			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.6144G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614960	0.66672	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.67171	-0.25;-0.09	5.0	5.0	0.66597	Intracellular calcium-release channel (1);	0.046141	0.85682	D	0.000000	T	0.63908	0.2551	L	0.46157	1.445	0.80722	D	1	B;B	0.19706	0.038;0.004	B;B	0.24848	0.056;0.016	T	0.62205	-0.6903	10	0.56958	D	0.05	.	17.8165	0.88635	0.0:0.0:1.0:0.0	.	2048;2048	Q15413-2;Q15413	.;RYR3_HUMAN	I	2048	ENSP00000373884:M2048I;ENSP00000399610:M2048I	ENSP00000354735:M2048I	M	+	3	0	RYR3	31777384	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.554000	0.98121	2.753000	0.94483	0.655000	0.94253	ATG		0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			41	50	0	0	0	1	0	41	50				
HLA-DQB1	3119	broad.mit.edu	37	6	32629760	32629760	+	Silent	SNP	G	G	T	rs9273922		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:32629760G>T	ENST00000399082.3	-	2	419	c.375C>A	c.(373-375)ccC>ccA	p.P125P	HLA-DQB1_ENST00000460185.1_5'Flank|HLA-DQB1_ENST00000399079.3_Silent_p.P215P|HLA-DQB1-AS1_ENST00000419852.1_RNA|HLA-DQB1_ENST00000374943.4_Silent_p.P215P|HLA-DQB1_ENST00000399084.1_Silent_p.P215P|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000434651.2_Silent_p.P215P			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	215	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""""""Insulin(DB00071)"""	CCACGGTGATGGGGCTCTGGA	0.542									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												Esophageal Squamous(151;720 1825 15000 40336 43415)	ENST00000399084.1																			0				breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(643-645)ccC>ccA		major histocompatibility complex, class II, DQ beta 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						54.0	59.0	57.0					6																	32629760		2196	4297	6493	SO:0001819	synonymous_variant	3119	T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32629760G>T		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.375C>A	6.37:g.32629760G>T						HLA-DQB1_ENST00000434651.2_Silent_p.P215P|HLA-DQB1_ENST00000399079.3_Silent_p.P215P|HLA-DQB1_ENST00000374943.4_Silent_p.P215P|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000399082.3_Silent_p.P125P	p.P215P			P01920	DQB1_HUMAN			4	823	-			215			Beta-2.|Ig-like C1-type.		A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Silent	SNP	ENST00000399082.3	37	c.645C>A																																																																																					0.542	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000276131.1	NM_002123		19	43	1	0	7.26314e-15	1	8.46776e-15	19	43				
RAB11FIP4	84440	broad.mit.edu	37	17	29851008	29851008	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:29851008T>G	ENST00000325874.8	+	9	1356	c.1127T>G	c.(1126-1128)gTg>gGg	p.V376G	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.V274G	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	376	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				ACACAGCTGGTGCACAGGTCA	0.587																																						ENST00000325874.8																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1126-1128)gTg>gGg		RAB11 family interacting protein 4 (class II)							48.0	40.0	43.0					17																	29851008		2201	4298	6499	SO:0001583	missense	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29851008T>G	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.1127T>G	17.37:g.29851008T>G	ENSP00000312837:p.Val376Gly					RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.V274G	p.V376G	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN			9	1356	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	376			Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	c.1127T>G	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.797296	0.50208	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	T	0.20738	2.05	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.87578	0.998;0.889	T	0.46707	-0.9172	9	.	.	.	-38.5401	13.7059	0.62639	0.0:0.0:0.0:1.0	.	274;376	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	G	376	ENSP00000312837:V376G	.	V	+	2	0	RAB11FIP4	26875128	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.717000	0.84732	2.133000	0.65898	0.402000	0.26972	GTG		0.587	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		5	11	0	0	0	1	0	5	11				
CSMD1	64478	broad.mit.edu	37	8	3046419	3046419	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:3046419G>T	ENST00000520002.1	-	36	6071	c.5516C>A	c.(5515-5517)tCg>tAg	p.S1839*	CSMD1_ENST00000602723.1_Nonsense_Mutation_p.S1839*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.S1839*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.S1838*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.S1839*|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.S1838*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.S1838*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1839	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGAATTCCCGAGCCCTCCGT	0.468																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(5515-5517)tCg>tAg		CUB and Sushi multiple domains 1							57.0	54.0	55.0					8																	3046419		1884	4101	5985	SO:0001587	stop_gained	64478					integral to membrane		g.chr8:3046419G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5516C>A	8.37:g.3046419G>T	ENSP00000430733:p.Ser1839*					CSMD1_ENST00000537824.1_Nonsense_Mutation_p.S1838*|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.S1839*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.S1839*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.S1839*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.S1838*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.S1838*	p.S1839*			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	36	6071	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1839			CUB 11.		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37	c.5516C>A		.	.	.	.	.	.	.	.	.	.	G	46	12.457620	0.99669	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.	.	.	5.53	5.53	0.82687	.	0.175379	0.39020	N	0.001487	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	19.4679	0.94950	0.0:0.0:1.0:0.0	.	.	.	.	X	1839;1839;1701;1838;1838;1838	.	ENSP00000320445:S1701X	S	-	2	0	CSMD1	3033826	1.000000	0.71417	0.102000	0.21198	0.047000	0.14425	7.689000	0.84165	2.582000	0.87167	0.637000	0.83480	TCG		0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		4	16	1	0	0.00024832	1	0.000259164	4	16				
NCAN	1463	broad.mit.edu	37	19	19345864	19345864	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:19345864G>T	ENST00000252575.6	+	10	3308	c.3209G>T	c.(3208-3210)tGc>tTc	p.C1070F	RNU6-1028P_ENST00000517164.1_RNA|NCAN_ENST00000538881.1_Missense_Mutation_p.C521F	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1070	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GGCTTTGTCTGCCTTTGCCTC	0.527																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(3208-3210)tGc>tTc		neurocan							164.0	132.0	143.0					19																	19345864		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19345864G>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3209G>T	19.37:g.19345864G>T	ENSP00000252575:p.Cys1070Phe					NCAN_ENST00000538881.1_Missense_Mutation_p.C521F	p.C1070F	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		10	3252	+			1070			EGF-like 2; calcium-binding (Potential).		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.3209G>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050247	0.75846	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.95788	-3.81;-3.81	4.53	4.53	0.55603	EGF-like calcium-binding, conserved site (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.43579	D	0.000546	D	0.98909	0.9630	H	0.99783	4.775	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.98652	1.0680	10	0.87932	D	0	.	14.8308	0.70146	0.0:0.0:1.0:0.0	.	1084;1070	Q4LE67;O14594	.;NCAN_HUMAN	F	1084;1070;521	ENSP00000252575:C1070F;ENSP00000442202:C521F	ENSP00000252575:C1070F	C	+	2	0	NCAN	19206864	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.518000	0.81795	2.358000	0.79984	0.591000	0.81541	TGC		0.527	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		27	57	1	0	8.58068e-18	1	1.02539e-17	27	57				
AIFM1	9131	broad.mit.edu	37	X	129272623	129272623	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:129272623C>G	ENST00000287295.3	-	9	1142	c.912G>C	c.(910-912)acG>acC	p.T304T	AIFM1_ENST00000460436.2_5'Flank|AIFM1_ENST00000319908.3_Silent_p.T300T|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000440263.1_5'Flank|AIFM1_ENST00000535724.1_Silent_p.T217T	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	304	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CACCGATAATCGTAATTGATT	0.433																																						ENST00000287295.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(910-912)acG>acC		apoptosis-inducing factor, mitochondrion-associated, 1							126.0	115.0	119.0					X																	129272623		2203	4300	6503	SO:0001819	synonymous_variant	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129272623C>G	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.912G>C	X.37:g.129272623C>G						AIFM1_ENST00000319908.3_Silent_p.T300T|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000535724.1_Silent_p.T217T	p.T304T	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN			9	1142	-			304			FAD-dependent oxidoreductase (By similarity).		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Silent	SNP	ENST00000287295.3	37	c.912G>C	CCDS14618.1																																																																																				0.433	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			20	94	0	0	0	1	0	20	94				
ADAM32	203102	broad.mit.edu	37	8	39089556	39089556	+	Silent	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:39089556T>C	ENST00000379907.4	+	15	1663	c.1536T>C	c.(1534-1536)aaT>aaC	p.N512N	ADAM32_ENST00000437682.2_Silent_p.N413N|ADAM32_ENST00000519315.1_Silent_p.N406N	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	512						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GTTCAAGAAATGCTCCATTTG	0.338																																						ENST00000379907.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31						c.(1534-1536)aaT>aaC		ADAM metallopeptidase domain 32							118.0	115.0	116.0					8																	39089556		1828	4079	5907	SO:0001819	synonymous_variant	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39089556T>C	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1536T>C	8.37:g.39089556T>C						ADAM32_ENST00000519315.1_Silent_p.N406N|ADAM32_ENST00000437682.2_Silent_p.N413N	p.N512N	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		15	1663	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	512					Q8TC42	Silent	SNP	ENST00000379907.4	37	c.1536T>C	CCDS47846.1																																																																																				0.338	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		37	72	0	0	0	1	0	37	72				
VIPR1	7433	broad.mit.edu	37	3	42560751	42560751	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:42560751C>T	ENST00000325123.4	+	3	334	c.221C>T	c.(220-222)cCa>cTa	p.P74L	VIPR1_ENST00000433647.1_Missense_Mutation_p.P33L|VIPR1_ENST00000438259.2_5'UTR|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.P27L|VIPR1_ENST00000473575.1_3'UTR|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	74					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		ACCTGCTGGCCAGCCACCCCT	0.592																																						ENST00000433647.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18						c.(97-99)cCa>cTa		vasoactive intestinal peptide receptor 1							101.0	84.0	90.0					3																	42560751		2203	4300	6503	SO:0001583	missense	7433				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr3:42560751C>T	AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.221C>T	3.37:g.42560751C>T	ENSP00000327246:p.Pro74Leu					VIPR1-AS1_ENST00000452639.2_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.P27L|VIPR1_ENST00000473575.1_3'UTR|VIPR1_ENST00000325123.4_Missense_Mutation_p.P74L|VIPR1_ENST00000438259.2_5'UTR|VIPR1-AS1_ENST00000598837.1_RNA	p.P33L	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	4	722	+			74					A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP	ENST00000325123.4	37	c.98C>T	CCDS2698.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497393	0.64186	.	.	ENSG00000114812	ENST00000433647;ENST00000450274;ENST00000543411;ENST00000439731;ENST00000325123	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	3.65	3.65	0.41850	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	0.067409	0.64402	D	0.000013	T	0.77605	0.4155	M	0.89534	3.04	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.79784	0.993;0.856;0.993	T	0.81189	-0.1046	10	0.62326	D	0.03	.	11.2116	0.48802	0.0:1.0:0.0:0.0	.	47;27;74	B4DNY6;F5H1F5;P32241	.;.;VIPR1_HUMAN	L	33;33;27;74;74	ENSP00000394950:P33L;ENSP00000415013:P33L;ENSP00000445701:P27L;ENSP00000403478:P74L;ENSP00000327246:P74L	ENSP00000327246:P74L	P	+	2	0	VIPR1	42535755	0.982000	0.34865	0.997000	0.53966	0.995000	0.86356	2.616000	0.46376	2.350000	0.79820	0.650000	0.86243	CCA		0.592	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624		12	13	0	0	0	1	0	12	13				
TAGLN2	8407	broad.mit.edu	37	1	159889093	159889093	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:159889093G>C	ENST00000368097.4	-	4	739	c.429C>G	c.(427-429)ctC>ctG	p.L143L	TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Silent_p.L164L|TAGLN2_ENST00000320307.4_Silent_p.L143L	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	143					epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)				endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCCAGAGAAGAGCCCATCAT	0.552																																						ENST00000368097.4																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(427-429)ctC>ctG		transgelin 2							82.0	80.0	81.0					1																	159889093		2203	4300	6503	SO:0001819	synonymous_variant	8407				muscle organ development	nuclear membrane|plasma membrane	protein binding	g.chr1:159889093G>C	D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"""SM22-alpha homolog"""	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.429C>G	1.37:g.159889093G>C						TAGLN2_ENST00000320307.4_Silent_p.L143L|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Silent_p.L164L	p.L143L	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	739	-	all_hematologic(112;0.0597)		143					E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	Silent	SNP	ENST00000368097.4	37	c.429C>G	CCDS1189.1																																																																																				0.552	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059105.1	NM_003564		9	102	0	0	0	1	0	9	102				
CELSR3	1951	broad.mit.edu	37	3	48683174	48683174	+	Splice_Site	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:48683174C>G	ENST00000164024.4	-	23	7871		c.e23+1		MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Splice_Site	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3						axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACAGCCCCACCTCACGGGGA	0.622																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.e24+1		cadherin, EGF LAG seven-pass G-type receptor 3							41.0	44.0	43.0					3																	48683174		2201	4297	6498	SO:0001630	splice_region_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48683174C>G	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7590+1G>C	3.37:g.48683174C>G						CELSR3_ENST00000164024.4_Splice_Site				Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	24	7886	-								O75092	Splice_Site	SNP	ENST00000164024.4	37		CCDS2775.1	.	.	.	.	.	.	.	.	.	.	c	24.5	4.533531	0.85812	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2444	0.93896	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CELSR3	48658178	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.478000	0.81082	2.539000	0.85634	0.651000	0.88453	.		0.622	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407	Intron	5	36	0	0	0	1	0	5	36				
CYP1B1	1545	broad.mit.edu	37	2	38302272	38302272	+	Missense_Mutation	SNP	A	A	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:38302272A>C	ENST00000260630.3	-	2	661	c.260T>G	c.(259-261)aTc>aGc	p.I87S	CYP1B1-AS1_ENST00000589303.1_RNA|CYP1B1_ENST00000407341.1_Missense_Mutation_p.I87S|CYP1B1-AS1_ENST00000431999.1_RNA|CYP1B1_ENST00000494864.1_Intron	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	87					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)	GCCCAGGCGGATCTGGAAAAC	0.711																																						ENST00000260630.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13						c.(259-261)aTc>aGc		cytochrome P450, family 1, subfamily B, polypeptide 1	Estrone(DB00655)						5.0	6.0	6.0					2																	38302272		2066	4129	6195	SO:0001583	missense	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38302272A>C	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.260T>G	2.37:g.38302272A>C	ENSP00000260630:p.Ile87Ser					CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Missense_Mutation_p.I87S	p.I87S	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN			2	661	-		all_hematologic(82;0.21)	87					Q5TZW8|Q93089|Q9H316	Missense_Mutation	SNP	ENST00000260630.3	37	c.260T>G	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.767015	0.69878	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	T;T	0.70399	-0.48;-0.48	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	D	0.85292	0.5663	M	0.90759	3.145	0.58432	D	0.999995	D	0.89917	1.0	D	0.79108	0.992	D	0.87853	0.2659	10	0.87932	D	0	.	11.4375	0.50076	1.0:0.0:0.0:0.0	.	87	Q53TK1	.	S	87	ENSP00000260630:I87S;ENSP00000384972:I87S	ENSP00000260630:I87S	I	-	2	0	CYP1B1	38155776	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	6.992000	0.76238	1.805000	0.52779	0.402000	0.26972	ATC		0.711	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		4	5	0	0	0	1	0	4	5				
OR4C15	81309	broad.mit.edu	37	11	55322862	55322862	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:55322862G>C	ENST00000314644.2	+	1	1080	c.1080G>C	c.(1078-1080)gtG>gtC	p.V360V		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GACTGATGGTGGTTTCTGATG	0.303										HNSCC(20;0.049)																												ENST00000314644.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(1078-1080)gtG>gtC		olfactory receptor, family 4, subfamily C, member 15							45.0	45.0	45.0					11																	55322862		2201	4292	6493	SO:0001819	synonymous_variant	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322862G>C	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.1080G>C	11.37:g.55322862G>C		HNSCC(20;0.049)					p.V360V	NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN			1	1080	+			306					Q6IFE2	Silent	SNP	ENST00000314644.2	37	c.1080G>C	CCDS31501.1																																																																																				0.303	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		4	50	0	0	0	1	0	4	50				
PCDH10	57575	broad.mit.edu	37	4	134073851	134073851	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:134073851C>G	ENST00000264360.5	+	1	3382	c.2556C>G	c.(2554-2556)ccC>ccG	p.P852P		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	852					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGCACAACCCCTGCGGGGCCA	0.572																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2554-2556)ccC>ccG		protocadherin 10							83.0	78.0	80.0					4																	134073851		2203	4300	6503	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073851C>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2556C>G	4.37:g.134073851C>G							p.P852P	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3382	+			852					Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.2556C>G	CCDS34063.1																																																																																				0.572	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		4	64	0	0	0	1	0	4	64				
CPEB1	64506	broad.mit.edu	37	15	83296034	83296034	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:83296034G>A	ENST00000562019.1	-	2	416	c.100C>T	c.(100-102)Cga>Tga	p.R34*	CPEB1_ENST00000450751.2_5'UTR|CPEB1_ENST00000568128.1_Nonsense_Mutation_p.R34*|CPEB1_ENST00000568757.1_5'UTR|CPEB1_ENST00000563800.1_Nonsense_Mutation_p.R61*			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	34					cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTTATCCTTCGAAAGATATTG	0.413																																						ENST00000563800.1																			0				breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28						c.(181-183)Cga>Tga		cytoplasmic polyadenylation element binding protein 1							121.0	117.0	118.0					15																	83296034		1885	4127	6012	SO:0001587	stop_gained	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83296034G>A	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.100C>T	15.37:g.83296034G>A	ENSP00000457836:p.Arg34*					CPEB1_ENST00000450751.2_5'UTR|CPEB1_ENST00000568757.1_5'UTR|CPEB1_ENST00000568128.1_Nonsense_Mutation_p.R34*|CPEB1_ENST00000562019.1_Nonsense_Mutation_p.R34*	p.R61*			Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		2	1906	-			34					B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Nonsense_Mutation	SNP	ENST00000562019.1	37	c.181C>T		.	.	.	.	.	.	.	.	.	.	G	18.28	3.588333	0.66105	.	.	ENSG00000214575	ENST00000450751;ENST00000398593	.	.	.	5.77	4.86	0.63082	.	0.695276	0.13684	U	0.370002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9777	9.783	0.40660	0.07:0.0:0.7912:0.1389	.	.	.	.	X	34	.	ENSP00000381593:R34X	R	-	1	2	CPEB1	81093089	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	5.532000	0.67154	1.446000	0.47643	0.650000	0.86243	CGA		0.413	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		37	38	0	0	0	1	0	37	38				
GTF3C5	9328	broad.mit.edu	37	9	135919236	135919236	+	Silent	SNP	G	G	A	rs138342612	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:135919236G>A	ENST00000372097.5	+	3	818	c.495G>A	c.(493-495)ccG>ccA	p.P165P	GTF3C5_ENST00000485692.1_3'UTR|GTF3C5_ENST00000342018.8_Silent_p.P165P|GTF3C5_ENST00000372108.5_Silent_p.P165P|GTF3C5_ENST00000372099.6_Silent_p.P156P|GTF3C5_ENST00000372095.5_Silent_p.P40P	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	165					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGGAGCTGCCGCTCTACATCC	0.622																																						ENST00000372097.5																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21						c.(493-495)ccG>ccA		general transcription factor IIIC, polypeptide 5, 63kDa		G	,	9,4397	15.5+/-35.6	0,9,2194	88.0	88.0	88.0		495,495	-2.4	1.0	9	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GTF3C5	NM_001122823.1,NM_012087.3	,	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	,	165/527,165/520	135919236	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	9328					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr9:135919236G>A	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.495G>A	9.37:g.135919236G>A						GTF3C5_ENST00000342018.8_Silent_p.P165P|GTF3C5_ENST00000485692.1_3'UTR|GTF3C5_ENST00000372099.6_Silent_p.P156P|GTF3C5_ENST00000372108.5_Silent_p.P165P|GTF3C5_ENST00000372095.5_Silent_p.P40P	p.P165P	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)	3	818	+			165					A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Silent	SNP	ENST00000372097.5	37	c.495G>A	CCDS6958.1																																																																																				0.622	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		38	64	0	0	0	1	0	38	64				
HCAR2	338442	broad.mit.edu	37	12	123187747	123187747	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:123187747C>G	ENST00000328880.5	-	1	143	c.84G>C	c.(82-84)aaG>aaC	p.K28N	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	28					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	GCGGCAACACCTTGACAATGA	0.507																																						ENST00000328880.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(82-84)aaG>aaC		hydroxycarboxylic acid receptor 2	Mepenzolate(DB04843)|Niacin(DB00627)						88.0	81.0	83.0					12																	123187747		2203	4300	6503	SO:0001583	missense	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123187747C>G	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.84G>C	12.37:g.123187747C>G	ENSP00000375066:p.Lys28Asn					RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	p.K28N	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN			1	143	-			28					A0PJL5|A7LGG3	Missense_Mutation	SNP	ENST00000328880.5	37	c.84G>C	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.295150	0.00245	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.37235	1.21	5.49	-11.0	0.00169	.	1.252050	0.05684	N	0.590944	T	0.16171	0.0389	L	0.27053	0.805	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.39702	-0.9601	10	0.10902	T	0.67	-2.3688	2.5758	0.04806	0.3415:0.099:0.3594:0.2001	.	28	Q8TDS4	HCAR2_HUMAN	N	28	ENSP00000375066:K28N	ENSP00000375066:K28N	K	-	3	2	HCAR2	121753700	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-5.139000	0.00147	-7.065000	0.00002	-1.394000	0.01149	AAG		0.507	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		13	54	0	0	0	1	0	13	54				
OR1L8	138881	broad.mit.edu	37	9	125330655	125330655	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:125330655G>C	ENST00000304865.2	-	1	183	c.102C>G	c.(100-102)atC>atG	p.I34M		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCAGGTACACGATGAGGAAGA	0.498																																						ENST00000304865.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(100-102)atC>atG		olfactory receptor, family 1, subfamily L, member 8							125.0	138.0	134.0					9																	125330655		2203	4300	6503	SO:0001583	missense	138881				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125330655G>C		CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"""GPCR / Class A : Olfactory receptors"""	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.102C>G	9.37:g.125330655G>C	ENSP00000306607:p.Ile34Met						p.I34M	NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN			1	183	-			34					A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	c.102C>G	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	G	8.373	0.835711	0.16820	.	.	ENSG00000171496	ENST00000304865	T	0.01359	4.98	4.49	0.301	0.15781	.	0.447658	0.18389	N	0.142720	T	0.01661	0.0053	L	0.43646	1.37	0.09310	N	1	P	0.46512	0.879	P	0.45195	0.473	T	0.49790	-0.8902	10	0.34782	T	0.22	-0.8279	4.7538	0.13073	0.3429:0.0:0.5166:0.1405	.	34	Q8NGR8	OR1L8_HUMAN	M	34	ENSP00000306607:I34M	ENSP00000306607:I34M	I	-	3	3	OR1L8	124370476	0.000000	0.05858	0.051000	0.19133	0.369000	0.29798	-1.383000	0.02544	-0.019000	0.14055	-0.418000	0.06021	ATC		0.498	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1			34	39	0	0	0	1	0	34	39				
PACRG	135138	broad.mit.edu	37	6	163483325	163483325	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:163483325C>A	ENST00000337019.3	+	4	659	c.435C>A	c.(433-435)gtC>gtA	p.V145V	PACRG_ENST00000366889.2_Silent_p.V145V|PACRG_ENST00000366888.2_Silent_p.V145V	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	145					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		TCCTACCTGTCCTTCCACAGC	0.418																																						ENST00000337019.3																			0				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(433-435)gtC>gtA		PARK2 co-regulated							82.0	75.0	77.0					6																	163483325		2203	4300	6503	SO:0001819	synonymous_variant	135138							g.chr6:163483325C>A	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.435C>A	6.37:g.163483325C>A						PACRG_ENST00000366888.2_Silent_p.V145V|PACRG_ENST00000366889.2_Silent_p.V145V	p.V145V	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	4	659	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	145					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Silent	SNP	ENST00000337019.3	37	c.435C>A	CCDS5284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.982|9.982	1.228411|1.228411	0.22542|0.22542	.|.	.|.	ENSG00000112530|ENSG00000112530	ENST00000534958|ENST00000542936	.|.	.|.	.|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|.	.|.	.|.	.|.	T|T	0.60753|0.60753	0.2293|0.2293	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.60722|0.60722	-0.7207|-0.7207	4|4	.|.	.|.	.|.	-26.8557|-26.8557	13.7104|13.7104	0.62665|0.62665	0.0:0.9232:0.0:0.0768|0.0:0.9232:0.0:0.0768	.|.	.|.	.|.	.|.	T|Y	61|3	.|.	.|.	P|S	+|+	1|2	0|0	PACRG|PACRG	163403315|163403315	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.277000|2.277000	0.43417|0.43417	2.401000|2.401000	0.81631|0.81631	0.609000|0.609000	0.83330|0.83330	CCT|TCC		0.418	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410		10	21	1	0	2.17888e-05	1	2.30421e-05	10	21				
RPAIN	84268	broad.mit.edu	37	17	5329382	5329382	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:5329382C>T	ENST00000381209.3	+	4	975	c.405C>T	c.(403-405)ctC>ctT	p.L135L	CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000381208.5_Silent_p.L135L|RPAIN_ENST00000405578.4_Silent_p.L135L|RPAIN_ENST00000536255.2_Intron|RPAIN_ENST00000327154.6_Silent_p.L135L|RPAIN_ENST00000574003.1_Intron	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	135					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|protein import into nucleus (GO:0006606)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)	metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						CAAACCCACTCATCTGTCCTG	0.468																																						ENST00000381209.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(403-405)ctC>ctT		RPA interacting protein							72.0	59.0	64.0					17																	5329382		2203	4300	6503	SO:0001819	synonymous_variant	84268				DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding	g.chr17:5329382C>T	AY775314	CCDS32536.1, CCDS54075.1, CCDS54076.1, CCDS54077.1, CCDS54079.1	17p13.2	2014-02-12	2006-05-08			ENSG00000129197			28641	protein-coding gene	gene with protein product						16135809, 16008515	Standard	NM_001033002		Approved	MGC4189, RIP, hRIP	uc010vsz.1	Q86UA6		ENST00000381209.3:c.405C>T	17.37:g.5329382C>T						RPAIN_ENST00000574003.1_Intron|RPAIN_ENST00000536255.2_Intron|RPAIN_ENST00000405578.4_Silent_p.L135L|RPAIN_ENST00000381208.5_Silent_p.L135L|RPAIN_ENST00000327154.6_Silent_p.L135L|CTC-524C5.2_ENST00000575890.1_RNA	p.L135L	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN			4	975	+			135					B4DI36|B4DTX7|E9PES3|J3KNH8|Q4G2Y0|Q4G2Y5|Q4G2Y8|Q6B4V9|Q6B4W0|Q6B4W1|Q6B4W4|Q86X49|Q9BT00	Silent	SNP	ENST00000381209.3	37	c.405C>T	CCDS32536.1																																																																																				0.468	RPAIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439373.1	NM_001033002		8	13	0	0	0	1	0	8	13				
CARD11	84433	broad.mit.edu	37	7	2987336	2987336	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:2987336G>C	ENST00000396946.4	-	3	496	c.93C>G	c.(91-93)caC>caG	p.H31Q	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	31	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGCTGAGCATGTGCCGGTTAC	0.512			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(91-93)caC>caG		caspase recruitment domain family, member 11							287.0	228.0	248.0					7																	2987336		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2987336G>C	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.93C>G	7.37:g.2987336G>C	ENSP00000380150:p.His31Gln						p.H31Q	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	3	496	-		Ovarian(82;0.0115)	31			CARD.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.93C>G	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219851	0.79464	.	.	ENSG00000198286	ENST00000396946;ENST00000356408	T;T	0.20463	2.07;2.07	5.35	4.27	0.50696	DEATH-like (2);Caspase Recruitment (2);	0.098358	0.64402	D	0.000001	T	0.43853	0.1266	M	0.71581	2.175	0.44562	D	0.997523	D	0.76494	0.999	D	0.77557	0.99	T	0.20672	-1.0268	10	0.33940	T	0.23	-57.326	14.9165	0.70801	0.0811:0.0:0.9189:0.0	.	31	Q9BXL7	CAR11_HUMAN	Q	31	ENSP00000380150:H31Q;ENSP00000348779:H31Q	ENSP00000348779:H31Q	H	-	3	2	CARD11	2953862	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.178000	0.71968	2.520000	0.84964	0.561000	0.74099	CAC		0.512	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		24	150	0	0	0	1	0	24	150				
ZNF486	90649	broad.mit.edu	37	19	20307969	20307969	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:20307969G>A	ENST00000335117.8	+	4	507	c.450G>A	c.(448-450)caG>caA	p.Q150Q	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CAACTACCCAGAGCAAAATAT	0.303																																						ENST00000335117.8																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(448-450)caG>caA		zinc finger protein 486							64.0	69.0	68.0					19																	20307969		2186	4291	6477	SO:0001819	synonymous_variant	90649				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20307969G>A	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.450G>A	19.37:g.20307969G>A						CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	p.Q150Q	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN			4	507	+			150					Q0VG00	Silent	SNP	ENST00000335117.8	37	c.450G>A	CCDS46029.1																																																																																				0.303	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852		36	74	0	0	0	1	0	36	74				
CACHD1	57685	broad.mit.edu	37	1	65129394	65129394	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:65129394G>C	ENST00000371073.2	+	14	1968	c.1968G>C	c.(1966-1968)atG>atC	p.M656I	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.M605I			Q5VU97	CAHD1_HUMAN	cache domain containing 1	656					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCACCATCATGCTGTCTGCTG	0.537																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1966-1968)atG>atC		cache domain containing 1							194.0	197.0	196.0					1																	65129394		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65129394G>C	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1968G>C	1.37:g.65129394G>C	ENSP00000360113:p.Met656Ile					CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.M605I	p.M656I			Q5VU97	CAHD1_HUMAN			14	1968	+			656					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.1968G>C		.	.	.	.	.	.	.	.	.	.	G	19.92	3.915894	0.73098	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.22945	1.93;1.94	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.21881	0.0527	L	0.40543	1.245	0.80722	D	1	P	0.35872	0.525	P	0.45428	0.48	T	0.02138	-1.1207	10	0.22706	T	0.39	-33.0988	20.3138	0.98647	0.0:0.0:1.0:0.0	.	656	Q5VU97	CAHD1_HUMAN	I	656;605	ENSP00000360113:M656I;ENSP00000290039:M605I	ENSP00000290039:M605I	M	+	3	0	CACHD1	64901982	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.434000	0.97515	2.814000	0.96858	0.585000	0.79938	ATG		0.537	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		44	272	0	0	0	1	0	44	272				
DYNAP	284254	broad.mit.edu	37	18	52265330	52265330	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:52265330C>G	ENST00000321600.1	+	3	633	c.587C>G	c.(586-588)aCc>aGc	p.T196S	DYNAP_ENST00000585973.1_Missense_Mutation_p.T144S	NM_173629.1	NP_775900.1	Q8N1N2	DYNAP_HUMAN	dynactin associated protein	196	Thr-rich.				activation of protein kinase B activity (GO:0032148)|cellular response to ergosterol (GO:1901625)|positive regulation of cell proliferation (GO:0008284)|regulation of apoptotic process (GO:0042981)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											ACAGCTGCCACCACTTCCACA	0.453																																						ENST00000321600.1																			0											c.(586-588)aCc>aGc		dynactin associated protein							93.0	86.0	88.0					18																	52265330		2201	4298	6499	SO:0001583	missense	284254							g.chr18:52265330C>G	AK096425	CCDS11957.1	18q21.2	2012-10-24	2012-10-24	2012-10-24	ENSG00000178690	ENSG00000178690			26808	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 26"""	C18orf26		20978158	Standard	NM_173629		Approved	FLJ39106	uc002lfq.1	Q8N1N2	OTTHUMG00000132709	ENST00000321600.1:c.587C>G	18.37:g.52265330C>G	ENSP00000315265:p.Thr196Ser					DYNAP_ENST00000585973.1_Missense_Mutation_p.T144S	p.T196S	NM_173629.1	NP_775900.1					3	633	+									Missense_Mutation	SNP	ENST00000321600.1	37	c.587C>G	CCDS11957.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.429800	0.25726	.	.	ENSG00000178690	ENST00000321600	T	0.35973	1.28	3.44	-4.41	0.03590	.	1.243480	0.05715	N	0.596651	T	0.18759	0.0450	N	0.22421	0.69	0.09310	N	1	B	0.18013	0.025	B	0.16289	0.015	T	0.25916	-1.0118	10	0.09590	T	0.72	0.0165	6.0618	0.19842	0.0:0.236:0.22:0.544	.	196	Q8N1N2	CR026_HUMAN	S	196	ENSP00000315265:T196S	ENSP00000315265:T196S	T	+	2	0	C18orf26	50416328	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.025000	0.12413	-1.047000	0.03242	-0.324000	0.08512	ACC		0.453	DYNAP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256007.1	NM_173629		8	73	0	0	0	1	0	8	73				
ZBED1	9189	broad.mit.edu	37	X	2408484	2408484	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:2408484C>T	ENST00000381223.4	-	2	480	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	ZBED1_ENST00000381222.2_Missense_Mutation_p.A93T|ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381218.3_Missense_Mutation_p.A93T|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	93					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGGAGAAGGCGGTGGCGAAG	0.632																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(277-279)Gcc>Acc		zinc finger, BED-type containing 1							134.0	124.0	127.0					X																	2408484		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2408484C>T	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.277G>A	X.37:g.2408484C>T	ENSP00000370621:p.Ala93Thr					DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.A93T|ZBED1_ENST00000381218.3_Missense_Mutation_p.A93T	p.A93T	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	480	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	93					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.277G>A	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646923	0.67358	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218;ENST00000461691	.	.	.	2.62	2.62	0.31277	.	0.430764	0.18858	U	0.129208	T	0.43478	0.1249	.	.	.	0.09310	N	1	D	0.71674	0.998	P	0.55087	0.768	T	0.31971	-0.9924	8	0.14252	T	0.57	-21.0153	13.0583	0.58992	0.0:1.0:0.0:0.0	.	93	O96006	ZBED1_HUMAN	T	93	.	ENSP00000370616:A93T	A	-	1	0	ZBED1	2418484	0.998000	0.40836	0.995000	0.50966	0.761000	0.43186	4.857000	0.62939	1.086000	0.41228	0.425000	0.28330	GCC		0.632	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		19	84	0	0	0	1	0	19	84				
PLXDC2	84898	broad.mit.edu	37	10	20290916	20290916	+	Splice_Site	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:20290916G>T	ENST00000377252.4	+	2	1165		c.e2+1		PLXDC2_ENST00000377242.3_Splice_Site	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2						multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TCAGATCGAGGTAGATAAATA	0.433																																						ENST00000377252.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.e2+1		plexin domain containing 2							52.0	50.0	51.0					10																	20290916		2203	4300	6503	SO:0001630	splice_region_variant	84898					integral to membrane		g.chr10:20290916G>T	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.324+1G>T	10.37:g.20290916G>T						PLXDC2_ENST00000377242.3_Splice_Site		NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN			2	1165	+								Q96E59|Q96PD9|Q96SU9	Splice_Site	SNP	ENST00000377252.4	37		CCDS7132.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597455	0.46318	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000536022	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2061	0.89854	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLXDC2	20330922	1.000000	0.71417	0.998000	0.56505	0.330000	0.28571	6.280000	0.72626	2.737000	0.93849	0.650000	0.86243	.		0.433	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812	Intron	3	11	1	0	0.115264	1	0.116237	3	11				
GFPT2	9945	broad.mit.edu	37	5	179762901	179762901	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:179762901G>C	ENST00000253778.8	-	4	436	c.267C>G	c.(265-267)gcC>gcG	p.A89A		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	89	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AGCGCGTGTGGGCAATGCCGA	0.542																																						ENST00000253778.8																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(265-267)gcC>gcG		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						145.0	167.0	160.0					5																	179762901		2033	4182	6215	SO:0001819	synonymous_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179762901G>C	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.267C>G	5.37:g.179762901G>C							p.A89A	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	436	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	89			Glutamine amidotransferase type-2.		Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	c.267C>G	CCDS43411.1																																																																																				0.542	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		16	82	0	0	0	1	0	16	82				
GEM	2669	broad.mit.edu	37	8	95262646	95262646	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:95262646G>C	ENST00000297596.2	-	5	1047	c.783C>G	c.(781-783)agC>agG	p.S261R	GEM_ENST00000396194.2_Missense_Mutation_p.S261R	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	261					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCCTGGGCATGCTCTCCTTCC	0.552																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	ENST00000297596.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(781-783)agC>agG		GTP binding protein overexpressed in skeletal muscle							96.0	87.0	90.0					8																	95262646		2203	4300	6503	SO:0001583	missense	2669				cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	g.chr8:95262646G>C		CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"""kinase-inducible Ras-like protein"""	600164	"""GTP-binding protein overexpressed in skeletal muscle"""			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.783C>G	8.37:g.95262646G>C	ENSP00000297596:p.Ser261Arg					GEM_ENST00000396194.2_Missense_Mutation_p.S261R	p.S261R	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		5	1047	-	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	261					B2RA31	Missense_Mutation	SNP	ENST00000297596.2	37	c.783C>G	CCDS6261.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556897	0.65425	.	.	ENSG00000164949	ENST00000396194;ENST00000297596	T;T	0.80033	-1.33;-1.33	5.47	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.88130	0.6354	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88884	0.3341	10	0.87932	D	0	.	11.0748	0.48025	0.1447:0.0:0.8553:0.0	.	261	P55040	GEM_HUMAN	R	261	ENSP00000379497:S261R;ENSP00000297596:S261R	ENSP00000297596:S261R	S	-	3	2	GEM	95331822	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.225000	0.51246	1.420000	0.47138	0.557000	0.71058	AGC		0.552	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702		7	72	0	0	0	1	0	7	72				
KIAA1109	84162	broad.mit.edu	37	4	123249472	123249472	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:123249472G>C	ENST00000264501.4	+	66	11582	c.11209G>C	c.(11209-11211)Gac>Cac	p.D3737H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D3737H			Q2LD37	K1109_HUMAN	KIAA1109	3737					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAAGATGAAGACCATGAGAG	0.398																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(11209-11211)Gac>Cac		KIAA1109							89.0	84.0	85.0					4																	123249472		1835	4080	5915	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123249472G>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.11209G>C	4.37:g.123249472G>C	ENSP00000264501:p.Asp3737His					KIAA1109_ENST00000388738.3_Missense_Mutation_p.D3737H	p.D3737H			Q2LD37	K1109_HUMAN			66	11582	+			3737					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.11209G>C	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.555166|4.555166	0.86231|0.86231	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707|ENST00000306802	T;T;T|.	0.37584|.	2.34;2.34;1.19|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.133470|.	0.49916|.	D|.	0.000131|.	T|T	0.69780|0.69780	0.3149|0.3149	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	P;P|.	0.41041|.	0.729;0.736|.	P;B|.	0.50617|.	0.646;0.443|.	T|T	0.65253|0.65253	-0.6213|-0.6213	10|5	0.87932|.	D|.	0|.	.|.	19.5519|19.5519	0.95324|0.95324	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3736;3737|.	Q2LD37-4;Q2LD37|.	.;K1109_HUMAN|.	H|N	3737;3737;441|147	ENSP00000264501:D3737H;ENSP00000373390:D3737H;ENSP00000410874:D441H|.	ENSP00000264501:D3737H|.	D|K	+|+	1|3	0|2	KIAA1109|KIAA1109	123468922|123468922	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	9.271000|9.271000	0.95698|0.95698	2.623000|2.623000	0.88846|0.88846	0.467000|0.467000	0.42956|0.42956	GAC|AAG		0.398	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		9	65	0	0	0	1	0	9	65				
ADAMTSL1	92949	broad.mit.edu	37	9	18777032	18777032	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:18777032C>G	ENST00000380548.4	+	19	3144	c.2805C>G	c.(2803-2805)caC>caG	p.H935Q		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	935	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCAAGATCCACCGCCTCAAGC	0.647																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(2803-2805)caC>caG		ADAMTS-like 1							45.0	53.0	50.0					9																	18777032		2038	4185	6223	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18777032C>G	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2805C>G	9.37:g.18777032C>G	ENSP00000369921:p.His935Gln						p.H935Q	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	19	3144	+			935			Ig-like C2-type 1.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.2805C>G	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	c	12.25	1.882132	0.33255	.	.	ENSG00000178031	ENST00000380548	T	0.12147	2.71	5.53	-5.04	0.02964	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	26.427600	0.05421	U	0.544236	T	0.08492	0.0211	N	0.05177	-0.1	0.80722	D	1	B	0.30326	0.276	B	0.33196	0.159	T	0.20974	-1.0259	10	0.51188	T	0.08	.	14.696	0.69121	0.0:0.3707:0.0:0.6293	.	935	Q8N6G6	ATL1_HUMAN	Q	935	ENSP00000369921:H935Q	ENSP00000369921:H935Q	H	+	3	2	ADAMTSL1	18767032	0.494000	0.26043	0.860000	0.33809	0.148000	0.21650	-0.331000	0.07914	-1.000000	0.03438	-0.355000	0.07637	CAC		0.647	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			17	74	0	0	0	1	0	17	74				
UNC5D	137970	broad.mit.edu	37	8	35583899	35583899	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:35583899C>T	ENST00000404895.2	+	10	1861	c.1533C>T	c.(1531-1533)ccC>ccT	p.P511P	UNC5D_ENST00000416672.1_Silent_p.P516P|UNC5D_ENST00000449677.1_Silent_p.P87P|UNC5D_ENST00000453357.2_Silent_p.P506P|UNC5D_ENST00000420357.1_Silent_p.P444P|UNC5D_ENST00000287272.2_Silent_p.P442P	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	511					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGACTTTTCCCCATGGAAACA	0.468																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1324-1326)ccC>ccT		unc-5 homolog D (C. elegans)							96.0	98.0	97.0					8																	35583899		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35583899C>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1533C>T	8.37:g.35583899C>T						UNC5D_ENST00000449677.1_Silent_p.P87P|UNC5D_ENST00000453357.2_Silent_p.P506P|UNC5D_ENST00000404895.2_Silent_p.P511P|UNC5D_ENST00000420357.1_Silent_p.P444P|UNC5D_ENST00000416672.1_Silent_p.P516P	p.P442P			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1346	+			511					Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.1326C>T	CCDS6093.2																																																																																				0.468	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			16	90	0	0	0	1	0	16	90				
PTPRG	5793	broad.mit.edu	37	3	62177184	62177184	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:62177184A>G	ENST00000474889.1	+	9	1452	c.1075A>G	c.(1075-1077)Aac>Gac	p.N359D	PTPRG_ENST00000295874.10_Missense_Mutation_p.N359D	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	359	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GCAGCCTCTGAACCAGACGGC	0.537																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(1075-1077)Aac>Gac		protein tyrosine phosphatase, receptor type, G							95.0	80.0	85.0					3																	62177184		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62177184A>G	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.1075A>G	3.37:g.62177184A>G	ENSP00000418112:p.Asn359Asp					PTPRG_ENST00000295874.10_Missense_Mutation_p.N359D	p.N359D	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	9	1452	+			359			Fibronectin type-III.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.1075A>G	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.897837	0.91962	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.76968	-1.06;-1.06	5.49	5.49	0.81192	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83184	0.5199	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	D	0.85126	0.0972	10	0.72032	D	0.01	.	15.5504	0.76148	1.0:0.0:0.0:0.0	.	359;359	P23470-2;P23470	.;PTPRG_HUMAN	D	359	ENSP00000418112:N359D;ENSP00000295874:N359D	ENSP00000295874:N359D	N	+	1	0	PTPRG	62152224	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.697000	0.91307	2.084000	0.62774	0.443000	0.29094	AAC		0.537	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		6	28	0	0	0	1	0	6	28				
BBS4	585	broad.mit.edu	37	15	73029293	73029293	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:73029293C>G	ENST00000268057.4	+	15	1480	c.1439C>G	c.(1438-1440)aCg>aGg	p.T480R	BBS4_ENST00000395205.2_Missense_Mutation_p.T488R|BBS4_ENST00000542334.1_Missense_Mutation_p.T308R|BBS4_ENST00000539603.1_Missense_Mutation_p.T468R	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	480	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GCATACAGGACGCTCCCCTCA	0.522									Bardet-Biedl syndrome																													ENST00000268057.4																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						c.(1438-1440)aCg>aGg		Bardet-Biedl syndrome 4							111.0	112.0	112.0					15																	73029293		2198	4297	6495	SO:0001583	missense	585	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73029293C>G	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1439C>G	15.37:g.73029293C>G	ENSP00000268057:p.Thr480Arg					BBS4_ENST00000539603.1_Missense_Mutation_p.T468R|BBS4_ENST00000542334.1_Missense_Mutation_p.T308R|BBS4_ENST00000395205.2_Missense_Mutation_p.T488R	p.T480R	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN			15	1480	+			480			Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.1439C>G	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	C	9.140	1.013670	0.19277	.	.	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.73	2.12	0.27331	.	0.217699	0.48286	D	0.000190	T	0.65354	0.2683	N	0.08118	0	0.23720	N	0.997023	B;B;B	0.23249	0.082;0.082;0.049	B;B;B	0.19391	0.025;0.025;0.007	T	0.49409	-0.8943	10	0.23891	T	0.37	-11.6378	12.8258	0.57718	0.5427:0.4573:0.0:0.0	.	468;488;480	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	R	308;480;468;488	ENSP00000445964:T308R;ENSP00000268057:T480R;ENSP00000442492:T468R;ENSP00000378631:T488R	ENSP00000268057:T480R	T	+	2	0	BBS4	70816346	1.000000	0.71417	0.009000	0.14445	0.739000	0.42172	1.813000	0.38962	0.107000	0.17824	-0.262000	0.10625	ACG		0.522	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		17	165	0	0	0	1	0	17	165				
LIN7A	8825	broad.mit.edu	37	12	81239533	81239533	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:81239533G>T	ENST00000552864.1	-	4	661	c.459C>A	c.(457-459)gaC>gaA	p.D153E		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	153	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						ATAGCAGCTGGTCTCCTCTTT	0.428																																						ENST00000552864.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						c.(457-459)gaC>gaA		lin-7 homolog A (C. elegans)							76.0	75.0	76.0					12																	81239533		2203	4300	6503	SO:0001583	missense	8825				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding	g.chr12:81239533G>T	AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"""mammalian LIN-7 1"""	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.459C>A	12.37:g.81239533G>T	ENSP00000447488:p.Asp153Glu						p.D153E	NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN			4	661	-			153			PDZ.		A4FTY3|Q147W1|Q6LES3|Q7LDS4	Missense_Mutation	SNP	ENST00000552864.1	37	c.459C>A	CCDS9021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.05|15.05	2.717329|2.717329	0.48622|0.48622	.|.	.|.	ENSG00000111052|ENSG00000111052	ENST00000552864;ENST00000549417|ENST00000552093	T;T|.	0.73789|.	-0.78;-0.78|.	5.27|5.27	3.45|3.45	0.39498|0.39498	PDZ/DHR/GLGF (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80660|0.80660	0.4665|0.4665	M|M	0.92649|0.92649	3.33|3.33	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.76494|.	0.999|.	D|.	0.77557|.	0.99|.	D|D	0.83707|0.83707	0.0185|0.0185	10|5	0.87932|.	D|.	0|.	-19.3581|-19.3581	12.2818|12.2818	0.54767|0.54767	0.1367:0.0:0.8633:0.0|0.1367:0.0:0.8633:0.0	.|.	153|.	O14910|.	LIN7A_HUMAN|.	E|N	153;147|119	ENSP00000447488:D153E;ENSP00000448975:D147E|.	ENSP00000448975:D147E|.	D|T	-|-	3|2	2|0	LIN7A|LIN7A	79763664|79763664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.302000|0.302000	0.27658|0.27658	3.330000|3.330000	0.52068|0.52068	0.721000|0.721000	0.32231|0.32231	-0.880000|-0.880000	0.02959|0.02959	GAC|ACC		0.428	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1			13	36	1	0	1.52009e-12	1	1.73276e-12	13	36				
DMD	1756	broad.mit.edu	37	X	33146274	33146274	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:33146274C>T	ENST00000378677.2	-	1	203	c.9G>A	c.(7-9)gaG>gaA	p.E3E	DMD_ENST00000357033.4_Intron|DMD_ENST00000288447.4_Intron	NM_004009.3|NM_004010.3|NM_004011.3|NM_004012.3|NM_004014.2	NP_004000|NP_004001.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	0	Actin-binding.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAGATGAGACCTCAGACATTT	0.428																																						ENST00000378677.2																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(7-9)gaG>gaA		dystrophin							119.0	95.0	102.0					X																	33146274		1851	4093	5944	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:33146274C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000378677.2:c.9G>A	X.37:g.33146274C>T						DMD_ENST00000357033.4_Intron|DMD_ENST00000288447.4_Intron	p.E3E	NM_004009.3|NM_004010.3|NM_004011.3|NM_004012.3|NM_004014.2	NP_004000.1|NP_004001.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			1	203	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	0			Actin-binding.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000378677.2	37	c.9G>A	CCDS55395.1																																																																																				0.428	DMD-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056187.2	NM_004006		5	8	0	0	0	1	0	5	8				
COL4A1	1282	broad.mit.edu	37	13	110815867	110815867	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:110815867G>C	ENST00000375820.4	-	47	4313	c.4192C>G	c.(4192-4194)Cct>Gct	p.P1398A	COL4A1_ENST00000467182.1_5'Flank	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1398	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCAAACCCAGGAATACCTGGA	0.498																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(4192-4194)Cct>Gct		collagen, type IV, alpha 1							56.0	49.0	52.0					13																	110815867		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110815867G>C	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.4192C>G	13.37:g.110815867G>C	ENSP00000364979:p.Pro1398Ala						p.P1398A	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		47	4313	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1398			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.4192C>G	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449763	0.63290	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.95447	-3.71	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.96056	0.8715	L	0.31120	0.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95486	0.8565	10	0.35671	T	0.21	.	19.2668	0.93990	0.0:0.0:1.0:0.0	.	1398	P02462	CO4A1_HUMAN	A	1041;1398;1047	ENSP00000364979:P1398A	ENSP00000364973:P1041A	P	-	1	0	COL4A1	109613868	1.000000	0.71417	0.169000	0.22859	0.464000	0.32679	9.191000	0.94940	2.547000	0.85894	0.591000	0.81541	CCT		0.498	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			3	28	0	0	0	1	0	3	28				
SLC2A12	154091	broad.mit.edu	37	6	134350375	134350375	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:134350375C>A	ENST00000275230.5	-	2	743	c.588G>T	c.(586-588)tgG>tgT	p.W196C		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	196					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		ACATGTACTTCCAGCCATGGA	0.428																																					Melanoma(122;1663 1672 14489 35294 41228)	ENST00000275230.5																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(586-588)tgG>tgT		solute carrier family 2 (facilitated glucose transporter), member 12							86.0	88.0	87.0					6																	134350375		2203	4300	6503	SO:0001583	missense	154091					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	g.chr6:134350375C>A	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.588G>T	6.37:g.134350375C>A	ENSP00000275230:p.Trp196Cys						p.W196C	NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)	2	743	-	Breast(56;0.214)|Colorectal(23;0.221)		196					B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	37	c.588G>T	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412507	0.62511	.	.	ENSG00000146411	ENST00000275230	D	0.82619	-1.63	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.94666	0.8280	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96436	0.9323	10	0.87932	D	0	-9.3734	19.174	0.93594	0.0:1.0:0.0:0.0	.	196	Q8TD20	GTR12_HUMAN	C	196	ENSP00000275230:W196C	ENSP00000275230:W196C	W	-	3	0	SLC2A12	134392068	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.426000	0.80270	2.542000	0.85734	0.467000	0.42956	TGG		0.428	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			42	63	1	0	1.22674e-20	1	1.49081e-20	42	63				
FREM2	341640	broad.mit.edu	37	13	39451318	39451318	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:39451318G>C	ENST00000280481.7	+	21	8825	c.8609G>C	c.(8608-8610)aGt>aCt	p.S2870T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2870					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCTAAGAAGAGTCTCTGGTTG	0.433																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(8608-8610)aGt>aCt		FRAS1 related extracellular matrix protein 2							334.0	298.0	310.0					13																	39451318		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39451318G>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8609G>C	13.37:g.39451318G>C	ENSP00000280481:p.Ser2870Thr						p.S2870T	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	21	8825	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2870					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.8609G>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	9.827	1.187486	0.21870	.	.	ENSG00000150893	ENST00000280481	T	0.63417	-0.04	5.92	3.09	0.35607	.	0.200439	0.49916	D	0.000121	T	0.32704	0.0838	N	0.04768	-0.165	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.12889	-1.0530	10	0.15952	T	0.53	.	5.3333	0.15944	0.2967:0.2221:0.4812:0.0	.	2870	Q5SZK8	FREM2_HUMAN	T	2870	ENSP00000280481:S2870T	ENSP00000280481:S2870T	S	+	2	0	FREM2	38349318	0.002000	0.14202	1.000000	0.80357	0.994000	0.84299	0.198000	0.17217	0.822000	0.34565	0.467000	0.42956	AGT		0.433	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		5	239	0	0	0	1	0	5	239				
L1CAM	3897	broad.mit.edu	37	X	153134304	153134304	+	Missense_Mutation	SNP	A	A	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:153134304A>T	ENST00000370060.1	-	12	1560	c.1371T>A	c.(1369-1371)agT>agA	p.S457R	L1CAM_ENST00000370057.3_Missense_Mutation_p.S457R|L1CAM_ENST00000370055.1_Missense_Mutation_p.S452R|L1CAM_ENST00000361981.3_Missense_Mutation_p.S452R|L1CAM_ENST00000543994.1_Missense_Mutation_p.S459R|L1CAM_ENST00000361699.4_Missense_Mutation_p.S457R|L1CAM_ENST00000538883.1_Missense_Mutation_p.S459R	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	457	Ig-like C2-type 5.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCACTGAACACTGGGCACAG	0.627																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1369-1371)agT>agA		L1 cell adhesion molecule							185.0	142.0	156.0					X																	153134304		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153134304A>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1371T>A	X.37:g.153134304A>T	ENSP00000359077:p.Ser457Arg					L1CAM_ENST00000543994.1_Missense_Mutation_p.S459R|L1CAM_ENST00000538883.1_Missense_Mutation_p.S459R|L1CAM_ENST00000370055.1_Missense_Mutation_p.S452R|L1CAM_ENST00000370057.3_Missense_Mutation_p.S457R|L1CAM_ENST00000361699.4_Missense_Mutation_p.S457R|L1CAM_ENST00000361981.3_Missense_Mutation_p.S452R	p.S457R	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			12	1560	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		457			Ig-like C2-type 5.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1371T>A	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	A	6.475	0.455791	0.12283	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.67	-4.45	0.03546	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.168700	0.41294	D	0.000903	T	0.45357	0.1338	N	0.16233	0.39	0.21105	N	0.999784	B;B;B	0.13594	0.006;0.001;0.008	B;B;B	0.17098	0.01;0.006;0.017	T	0.03933	-1.0991	10	0.46703	T	0.11	.	12.7363	0.57225	0.7229:0.094:0.1832:0.0	.	452;457;457	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	R	457;459;457;459;452;452;457	ENSP00000359077:S457R;ENSP00000438430:S459R;ENSP00000359074:S457R;ENSP00000439645:S459R;ENSP00000354712:S452R;ENSP00000359072:S452R;ENSP00000355380:S457R	ENSP00000355380:S457R	S	-	3	2	L1CAM	152787498	0.000000	0.05858	0.024000	0.17045	0.335000	0.28730	-1.680000	0.01939	-2.209000	0.00739	-1.546000	0.00904	AGT		0.627	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		74	109	0	0	0	1	0	74	109				
CRTAC1	55118	broad.mit.edu	37	10	99661260	99661260	+	Splice_Site	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:99661260C>T	ENST00000370597.3	-	8	1488	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	CRTAC1_ENST00000370591.2_Splice_Site_p.R378H|CRTAC1_ENST00000298819.4_Splice_Site_p.R378H	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	378						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GAGCATCTACCGGAAGAGGCG	0.567																																						ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.e8+1		cartilage acidic protein 1							86.0	70.0	75.0					10																	99661260		2203	4300	6503	SO:0001630	splice_region_variant	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99661260C>T	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1133+1G>A	10.37:g.99661260C>T						CRTAC1_ENST00000370591.2_Splice_Site_p.R378_splice|CRTAC1_ENST00000298819.4_Splice_Site_p.R378_splice	p.R378_splice	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	8	1488	-		Colorectal(252;0.24)	378					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Splice_Site	SNP	ENST00000370597.3	37	c.1133_splice	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770343	0.90108	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.52403	0.1732	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	0.988;1.0;1.0	P;D;D	0.68621	0.507;0.959;0.927	T	0.58521	-0.7622	9	.	.	.	-11.5596	16.9023	0.86117	0.0:1.0:0.0:0.0	.	378;378;274	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	H	274;378;378;370;378	ENSP00000408445:R274H;ENSP00000359629:R378H;ENSP00000298819:R378H;ENSP00000310810:R370H;ENSP00000359623:R378H	.	R	-	2	0	CRTAC1	99651250	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.527000	0.81931	2.208000	0.71279	0.462000	0.41574	CGC		0.567	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058	Missense_Mutation	7	26	0	0	0	1	0	7	26				
CARS	833	broad.mit.edu	37	11	3023793	3023793	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:3023793G>C	ENST00000397111.5	-	20	2251	c.2006C>G	c.(2005-2007)gCc>gGc	p.A669G	CARS_ENST00000278224.9_Missense_Mutation_p.A669G|CARS_ENST00000470221.2_Intron|CARS_ENST00000380525.4_Missense_Mutation_p.A752G|CARS_ENST00000401769.3_Missense_Mutation_p.A682G|CARS_ENST00000397114.3_Missense_Mutation_p.A659G			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	669					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	TTTCCTCCGGGCCGCCTCCTC	0.572			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	ENST00000397114.3				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31						c.(1975-1977)gCc>gGc		cysteinyl-tRNA synthetase	L-Cysteine(DB00151)						286.0	262.0	270.0					11																	3023793		2202	4298	6500	SO:0001583	missense	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	g.chr11:3023793G>C	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.2006C>G	11.37:g.3023793G>C	ENSP00000380300:p.Ala669Gly					CARS_ENST00000401769.3_Missense_Mutation_p.A682G|CARS_ENST00000278224.9_Missense_Mutation_p.A669G|CARS_ENST00000397111.5_Missense_Mutation_p.A669G|CARS_ENST00000470221.2_Intron|CARS_ENST00000380525.4_Missense_Mutation_p.A752G	p.A659G			P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	21	2352	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	669					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	c.1976C>G	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306426	0.23736	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.47528	0.84;0.85;0.84;0.85;0.84	3.54	3.54	0.40534	.	0.142457	0.46758	D	0.000271	T	0.50257	0.1605	M	0.86028	2.79	0.53005	D	0.999969	P;B;B;B;B;B	0.36789	0.57;0.417;0.286;0.214;0.417;0.228	B;B;B;B;B;B	0.35278	0.142;0.098;0.199;0.199;0.063;0.098	T	0.57476	-0.7805	10	0.37606	T	0.19	-11.2322	12.3261	0.55011	0.0:0.0:1.0:0.0	.	682;752;669;669;752;659	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	G	752;669;669;659;682	ENSP00000369897:A752G;ENSP00000380300:A669G;ENSP00000278224:A669G;ENSP00000380303:A659G;ENSP00000384069:A682G	ENSP00000278224:A669G	A	-	2	0	CARS	2980369	1.000000	0.71417	0.223000	0.23860	0.095000	0.18619	4.728000	0.62000	1.995000	0.58328	0.467000	0.42956	GCC		0.572	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		15	250	0	0	0	1	0	15	250				
ICAM3	3385	broad.mit.edu	37	19	10445934	10445934	+	Missense_Mutation	SNP	C	C	A	rs368063966		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:10445934C>A	ENST00000160262.5	-	4	953	c.745G>T	c.(745-747)Gcc>Tcc	p.A249S	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Missense_Mutation_p.A172S	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	249	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GCCTCTGAGGCTGGAAAAAGC	0.672																																						ENST00000589261.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(514-516)Gcc>Tcc		intercellular adhesion molecule 3							65.0	71.0	69.0					19																	10445934		2203	4300	6503	SO:0001583	missense	3385				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr19:10445934C>A		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.745G>T	19.37:g.10445934C>A	ENSP00000160262:p.Ala249Ser					ICAM3_ENST00000160262.5_Missense_Mutation_p.A249S	p.A172S			P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		4	1046	-			249			Ig-like C2-type 2.		Q6PD68	Missense_Mutation	SNP	ENST00000160262.5	37	c.514G>T	CCDS12235.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621240	0.66787	.	.	ENSG00000076662	ENST00000160262	T	0.06528	3.29	5.15	4.1	0.47936	Immunoglobulin-like fold (1);	0.767305	0.11378	N	0.570154	T	0.27241	0.0668	M	0.82823	2.61	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.05869	-1.0859	10	0.72032	D	0.01	-18.2836	11.2988	0.49294	0.1827:0.8173:0.0:0.0	.	249	P32942	ICAM3_HUMAN	S	249	ENSP00000160262:A249S	ENSP00000160262:A249S	A	-	1	0	ICAM3	10306934	0.002000	0.14202	0.002000	0.10522	0.004000	0.04260	1.490000	0.35573	1.270000	0.44297	-0.521000	0.04368	GCC		0.672	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			45	93	1	0	3.54909e-21	1	4.33509e-21	45	93				
SNPH	9751	broad.mit.edu	37	20	1276928	1276928	+	Intron	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:1276928G>T	ENST00000381873.3	+	3	189				SNPH_ENST00000381867.1_Silent_p.P15P|RAD21L1_ENST00000402452.1_Intron|RAD21L1_ENST00000381882.2_Intron	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin						brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGCCTGGCCCGGCCCTTTCTG	0.701																																						ENST00000381867.1																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(43-45)ccG>ccT		syntaphilin																																				SO:0001627	intron_variant	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1276928G>T		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.-47-41G>T	20.37:g.1276928G>T						RAD21L1_ENST00000381882.2_Intron|RAD21L1_ENST00000402452.1_Intron|SNPH_ENST00000381873.3_Intron	p.P15P			O15079	SNPH_HUMAN			4	687	+			0					Q8IYI3	Silent	SNP	ENST00000381873.3	37	c.45G>T	CCDS13012.1																																																																																				0.701	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		6	7	1	0	0.0215528	1	0.0218886	6	7				
BTBD7	55727	broad.mit.edu	37	14	93723574	93723574	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:93723574G>C	ENST00000334746.5	-	6	1882	c.1575C>G	c.(1573-1575)atC>atG	p.I525M	BTBD7_ENST00000554565.1_Missense_Mutation_p.I174M|BTBD7_ENST00000393170.2_Missense_Mutation_p.I99M	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	525					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TTATAGGTAAGATGTGTTCAA	0.368																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(1573-1575)atC>atG		BTB (POZ) domain containing 7							153.0	145.0	147.0					14																	93723574		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93723574G>C	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1575C>G	14.37:g.93723574G>C	ENSP00000335615:p.Ile525Met					BTBD7_ENST00000554565.1_Missense_Mutation_p.I174M|BTBD7_ENST00000393170.2_Missense_Mutation_p.I99M	p.I525M	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	6	1882	-		all_cancers(154;0.08)	525					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.1575C>G	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224360	0.58668	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.57595	0.74;0.39	5.64	3.44	0.39384	BTB/Kelch-associated (1);	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	L	0.59436	1.845	0.53005	D	0.999964	D;D;P	0.89917	0.999;1.0;0.806	D;D;B	0.85130	0.987;0.997;0.328	T	0.65990	-0.6034	10	0.87932	D	0	.	7.9302	0.29897	0.3223:0.0:0.6777:0.0	.	99;174;525	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	M	525;174;140;99	ENSP00000335615:I525M;ENSP00000451010:I174M	ENSP00000335615:I525M	I	-	3	3	BTBD7	92793327	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.481000	0.35476	1.525000	0.49052	0.650000	0.86243	ATC		0.368	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		17	59	0	0	0	1	0	17	59				
POLA1	5422	broad.mit.edu	37	X	24844670	24844670	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:24844670T>A	ENST00000379059.3	+	32	3685	c.3670T>A	c.(3670-3672)Tgt>Agt	p.C1224S	POLA1_ENST00000379068.3_Missense_Mutation_p.C1230S	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1224					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	GGCTCGGATCTGTGAACCAAT	0.522																																						ENST00000379068.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11						c.(3688-3690)Tgt>Agt		polymerase (DNA directed), alpha 1, catalytic subunit	Clofarabine(DB00631)|Fludarabine(DB01073)						149.0	90.0	110.0					X																	24844670		2203	4300	6503	SO:0001583	missense	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24844670T>A		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.3670T>A	X.37:g.24844670T>A	ENSP00000368349:p.Cys1224Ser					POLA1_ENST00000379059.3_Missense_Mutation_p.C1224S	p.C1230S			P09884	DPOLA_HUMAN			32	3731	+			1224					Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	c.3688T>A	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.771134	0.90108	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.16597	2.33;2.33	5.83	5.83	0.93111	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	M	0.82716	2.605	0.80722	D	1	D	0.60575	0.988	D	0.65573	0.936	T	0.49698	-0.8912	10	0.72032	D	0.01	-8.8097	15.1686	0.72850	0.0:0.0:0.0:1.0	.	1224	P09884	DPOLA_HUMAN	S	1230;1224	ENSP00000368358:C1230S;ENSP00000368349:C1224S	ENSP00000368349:C1224S	C	+	1	0	POLA1	24754591	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	1.965000	0.57142	0.486000	0.48141	TGT		0.522	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		8	12	0	0	0	1	0	8	12				
KIAA1549L	25758	broad.mit.edu	37	11	33596355	33596355	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:33596355G>A	ENST00000321505.4	+	9	3627	c.3447G>A	c.(3445-3447)ctG>ctA	p.L1149L	KIAA1549L_ENST00000265654.5_Silent_p.L1155L|KIAA1549L_ENST00000389726.3_Silent_p.L1155L			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1149						integral component of membrane (GO:0016021)											CCAAGATCCTGAGCACCATTG	0.517																																						ENST00000321505.4																			0											c.(3445-3447)ctG>ctA		KIAA1549-like							133.0	133.0	133.0					11																	33596355		2037	4188	6225	SO:0001819	synonymous_variant	25758							g.chr11:33596355G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3447G>A	11.37:g.33596355G>A						KIAA1549L_ENST00000389726.3_Silent_p.L1155L|KIAA1549L_ENST00000265654.5_Silent_p.L1155L	p.L1149L							9	3627	+								B0QYU0	Silent	SNP	ENST00000321505.4	37	c.3447G>A	CCDS44565.2																																																																																				0.517	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		14	97	0	0	0	1	0	14	97				
CCDC91	55297	broad.mit.edu	37	12	28702084	28702084	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:28702084C>A	ENST00000545336.1	+	16	1723	c.1304C>A	c.(1303-1305)aCg>aAg	p.T435K	CCDC91_ENST00000381256.1_Missense_Mutation_p.T399K|CCDC91_ENST00000306172.5_Missense_Mutation_p.T405K|CCDC91_ENST00000539107.1_Missense_Mutation_p.T399K|CCDC91_ENST00000381259.1_Missense_Mutation_p.T435K|CCDC91_ENST00000540401.1_3'UTR			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	435					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TTAATAGCTACGGAACCAGTT	0.378																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.(1303-1305)aCg>aAg		coiled-coil domain containing 91							124.0	120.0	121.0					12																	28702084		2203	4300	6503	SO:0001583	missense	55297				protein transport	Golgi apparatus|membrane		g.chr12:28702084C>A	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.1304C>A	12.37:g.28702084C>A	ENSP00000438040:p.Thr435Lys					CCDC91_ENST00000539107.1_Missense_Mutation_p.T399K|CCDC91_ENST00000381256.1_Missense_Mutation_p.T399K|CCDC91_ENST00000381259.1_Missense_Mutation_p.T435K|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Missense_Mutation_p.T405K	p.T435K			Q7Z6B0	CCD91_HUMAN			16	1723	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		435					B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	c.1304C>A	CCDS8716.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532377	0.45073	.	.	ENSG00000123106	ENST00000539107;ENST00000545336;ENST00000381259;ENST00000381256;ENST00000306172	T;T;T;T;T	0.30714	1.52;1.54;1.54;1.52;1.53	5.69	4.72	0.59763	.	0.204077	0.34200	N	0.004176	T	0.18425	0.0442	N	0.08118	0	0.27907	N	0.938751	B;P;P	0.38020	0.397;0.615;0.615	B;B;B	0.38954	0.103;0.286;0.286	T	0.11817	-1.0572	10	0.48119	T	0.1	-9.3043	12.9267	0.58264	0.2073:0.7927:0.0:0.0	.	399;435;405	Q7Z6B0-3;Q7Z6B0;Q7Z6B0-2	.;CCD91_HUMAN;.	K	399;435;435;399;405	ENSP00000440513:T399K;ENSP00000438040:T435K;ENSP00000370658:T435K;ENSP00000370655:T399K;ENSP00000305075:T405K	ENSP00000305075:T405K	T	+	2	0	CCDC91	28593351	0.985000	0.35326	0.967000	0.41034	0.997000	0.91878	2.359000	0.44142	2.699000	0.92147	0.655000	0.94253	ACG		0.378	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		38	76	1	0	5.71845e-15	1	6.67773e-15	38	76				
RNF19A	25897	broad.mit.edu	37	8	101299997	101299997	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:101299997G>C	ENST00000519449.1	-	3	722	c.406C>G	c.(406-408)Ctt>Gtt	p.L136V	RNF19A_ENST00000341084.2_Missense_Mutation_p.L136V	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	136					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TGCCGCAAAAGGCACAAAGGG	0.368																																						ENST00000519449.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(406-408)Ctt>Gtt		ring finger protein 19A, RBR E3 ubiquitin protein ligase							109.0	109.0	109.0					8																	101299997		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101299997G>C	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.406C>G	8.37:g.101299997G>C	ENSP00000428968:p.Leu136Val					RNF19A_ENST00000341084.2_Missense_Mutation_p.L136V	p.L136V	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		3	722	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		136					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.406C>G	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415303	0.83449	.	.	ENSG00000034677	ENST00000519449;ENST00000341084;ENST00000519527;ENST00000523167	D;D	0.85484	-1.99;-1.99	5.57	5.57	0.84162	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.91287	0.7253	M	0.66297	2.02	0.80722	D	1	D	0.67145	0.996	D	0.65773	0.938	D	0.90746	0.4653	10	0.48119	T	0.1	.	19.1651	0.93553	0.0:0.0:1.0:0.0	.	136	Q9NV58	RN19A_HUMAN	V	136	ENSP00000428968:L136V;ENSP00000342667:L136V	ENSP00000342667:L136V	L	-	1	0	RNF19A	101369173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.606000	0.88127	0.650000	0.86243	CTT		0.368	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		29	129	0	0	0	1	0	29	129				
XYLT1	64131	broad.mit.edu	37	16	17353124	17353124	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:17353124C>T	ENST00000261381.6	-	3	718	c.634G>A	c.(634-636)Ggc>Agc	p.G212S		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	212					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCACCGGGGCCTTTCCCAGGG	0.587																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(634-636)Ggc>Agc		xylosyltransferase I							117.0	130.0	126.0					16																	17353124		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17353124C>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.634G>A	16.37:g.17353124C>T	ENSP00000261381:p.Gly212Ser						p.G212S	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			3	718	-			212					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.634G>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	6.473	0.455365	0.12283	.	.	ENSG00000103489	ENST00000261381	T	0.03982	3.74	5.43	3.46	0.39613	.	0.291795	0.42172	D	0.000757	T	0.01940	0.0061	N	0.03608	-0.345	0.28907	N	0.892931	B	0.09022	0.002	B	0.08055	0.003	T	0.44159	-0.9346	10	0.17369	T	0.5	-18.3005	6.126	0.20180	0.0:0.7159:0.0:0.2841	.	212	Q86Y38	XYLT1_HUMAN	S	212	ENSP00000261381:G212S	ENSP00000261381:G212S	G	-	1	0	XYLT1	17260625	0.991000	0.36638	0.080000	0.20451	0.047000	0.14425	4.394000	0.59671	2.547000	0.85894	0.655000	0.94253	GGC		0.587	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		32	155	0	0	0	1	0	32	155				
FNDC3A	22862	broad.mit.edu	37	13	49765462	49765462	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:49765462G>C	ENST00000492622.2	+	19	2473	c.2168G>C	c.(2167-2169)aGc>aCc	p.S723T	FNDC3A_ENST00000541916.1_Missense_Mutation_p.S723T|FNDC3A_ENST00000398316.3_Missense_Mutation_p.S667T	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	723	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGTACAGTGAGCAGCCTTCTT	0.418																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(2167-2169)aGc>aCc		fibronectin type III domain containing 3A							115.0	113.0	114.0					13																	49765462		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49765462G>C	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2168G>C	13.37:g.49765462G>C	ENSP00000417257:p.Ser723Thr					FNDC3A_ENST00000398316.3_Missense_Mutation_p.S667T|FNDC3A_ENST00000541916.1_Missense_Mutation_p.S723T	p.S723T	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	19	2473	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	723			Fibronectin type-III 5.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.2168G>C	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.239164	0.39598	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.55760	0.5;0.5;0.5	5.47	3.71	0.42584	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.338109	0.30151	N	0.010283	T	0.35158	0.0922	L	0.32530	0.975	0.25462	N	0.987905	B;B	0.14012	0.005;0.009	B;B	0.20955	0.015;0.032	T	0.26503	-1.0101	10	0.06494	T	0.89	-1.2762	8.8133	0.34981	0.0761:0.2859:0.638:0.0	.	667;723	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	T	723;659;723;667	ENSP00000417257:S723T;ENSP00000441831:S723T;ENSP00000381362:S667T	ENSP00000338579:S659T	S	+	2	0	FNDC3A	48663463	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.564000	0.36375	0.657000	0.30906	0.655000	0.94253	AGC		0.418	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		4	89	0	0	0	1	0	4	89				
NPFF	8620	broad.mit.edu	37	12	53899503	53899503	+	IGR	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:53899503C>G	ENST00000267017.3	-	0	592				TARBP2_ENST00000552857.1_Missense_Mutation_p.F137L|TARBP2_ENST00000266987.2_Nonsense_Mutation_p.S271*|TARBP2_ENST00000456234.2_Nonsense_Mutation_p.S250*|TARBP2_ENST00000394357.2_Nonsense_Mutation_p.S250*	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CTACGAAATTCAGTAGGAGAG	0.602																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(811-813)tCa>tGa		TAR (HIV-1) RNA binding protein 2							109.0	113.0	112.0					12																	53899503		2203	4300	6503	SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53899503C>G	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53899503C>G						TARBP2_ENST00000552857.1_Missense_Mutation_p.F137L|TARBP2_ENST00000456234.2_Nonsense_Mutation_p.S250*|TARBP2_ENST00000394357.2_Nonsense_Mutation_p.S250*	p.S271*	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN			8	1295	+			271			Sufficient for interaction with DICER1.		Q3SXL4	Nonsense_Mutation	SNP	ENST00000267017.3	37	c.812C>G	CCDS8862.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.722162|4.722162	0.89298|0.89298	.|.	.|.	ENSG00000139546|ENSG00000139546	ENST00000552857;ENST00000550407|ENST00000266987;ENST00000456234;ENST00000394357	.|.	.|.	.|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.76807|.	0.4039|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79950|.	-0.1587|.	4|.	0.02654|0.72032	T|D	1|0.01	-13.709|-13.709	17.5584|17.5584	0.87900|0.87900	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	137;129|271;250;250	.|.	ENSP00000447767:F129L|ENSP00000266987:S271X	F|S	+|+	3|2	2|0	TARBP2|TARBP2	52185770|52185770	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.991000|0.991000	0.79684|0.79684	5.601000|5.601000	0.67606|0.67606	2.759000|2.759000	0.94783|0.94783	0.561000|0.561000	0.74099|0.74099	TTC|TCA		0.602	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		6	154	0	0	0	1	0	6	154				
HSDL1	83693	broad.mit.edu	37	16	84163701	84163701	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:84163701G>C	ENST00000219439.4	-	4	732	c.556C>G	c.(556-558)Cat>Gat	p.H186D	HSDL1_ENST00000434463.3_Missense_Mutation_p.H131D	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	186						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						AACACAACATGGACCATCAAA	0.512																																						ENST00000219439.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(556-558)Cat>Gat		hydroxysteroid dehydrogenase like 1							141.0	120.0	127.0					16																	84163701		2200	4300	6500	SO:0001583	missense	83693					mitochondrion	oxidoreductase activity|protein binding	g.chr16:84163701G>C	AF237684	CCDS10942.1, CCDS54046.1	16q24	2011-09-20			ENSG00000103160	ENSG00000103160		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	16475	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 3"""					12153137, 19027726	Standard	NM_031463		Approved	SDR12C3	uc002fhk.2	Q3SXM5	OTTHUMG00000137635	ENST00000219439.4:c.556C>G	16.37:g.84163701G>C	ENSP00000219439:p.His186Asp					HSDL1_ENST00000434463.3_Missense_Mutation_p.H131D	p.H186D	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN			4	732	-			186					B4DSL2|D3DUL4|Q3SXM4|Q8NC98|Q9BY22	Missense_Mutation	SNP	ENST00000219439.4	37	c.556C>G	CCDS10942.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572839	0.28092	.	.	ENSG00000103160	ENST00000434463;ENST00000219439	D;D	0.89485	-2.52;-2.2	5.35	5.35	0.76521	NAD(P)-binding domain (1);	0.188496	0.56097	D	0.000026	D	0.89918	0.6854	L	0.56396	1.775	0.39066	D	0.960627	B;B	0.23490	0.086;0.002	B;B	0.39840	0.311;0.008	D	0.88836	0.3309	10	0.59425	D	0.04	.	14.2984	0.66329	0.0:0.0:0.8514:0.1486	.	131;186	B4DSL2;Q3SXM5	.;HSDL1_HUMAN	D	131;186	ENSP00000407437:H131D;ENSP00000219439:H186D	ENSP00000219439:H186D	H	-	1	0	HSDL1	82721202	1.000000	0.71417	0.961000	0.40146	0.357000	0.29423	6.040000	0.70980	2.663000	0.90544	0.655000	0.94253	CAT		0.512	HSDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269076.3	NM_031463		7	117	0	0	0	1	0	7	117				
MXRA8	54587	broad.mit.edu	37	1	1289842	1289842	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:1289842C>G	ENST00000309212.6	-	6	1027	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	MXRA8_ENST00000445648.2_Missense_Mutation_p.E333Q|MXRA8_ENST00000477278.2_Missense_Mutation_p.E324Q|MXRA8_ENST00000342753.4_Missense_Mutation_p.E232Q	NM_001282582.1|NM_032348.2	NP_001269511.1|NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	333					establishment of glial blood-brain barrier (GO:0060857)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		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)		GCTCGGCTCTCGGGGACGATG	0.682																																						ENST00000309212.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7						c.(997-999)Gag>Cag		matrix-remodelling associated 8							49.0	50.0	50.0					1																	1289842		2192	4282	6474	SO:0001583	missense	54587					integral to membrane		g.chr1:1289842C>G	BC006213	CCDS24.1, CCDS59950.1, CCDS59951.1, CCDS59952.1	1p36.33	2013-01-11			ENSG00000162576	ENSG00000162576		"""Immunoglobulin superfamily / V-set domain containing"""	7542	protein-coding gene	gene with protein product	"""limitrin"""					14603461	Standard	XM_005244758		Approved	DKFZp586E2023	uc001aew.3	Q9BRK3	OTTHUMG00000002973	ENST00000309212.6:c.997G>C	1.37:g.1289842C>G	ENSP00000307887:p.Glu333Gln					MXRA8_ENST00000342753.4_Missense_Mutation_p.E232Q|MXRA8_ENST00000445648.2_Missense_Mutation_p.E333Q	p.E333Q	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_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)	6	1027	-	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	333					B3KTR6|B4DE34|Q5TA39|Q96KC3	Missense_Mutation	SNP	ENST00000309212.6	37	c.997G>C	CCDS24.1	.	.	.	.	.	.	.	.	.	.	.	18.90	3.721131	0.68959	.	.	ENSG00000162576	ENST00000309212;ENST00000378864;ENST00000342753;ENST00000445648	T;T;T	0.20332	2.09;2.17;2.08	4.43	4.43	0.53597	.	0.174539	0.48767	U	0.000166	T	0.47173	0.1431	M	0.74881	2.28	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.76071	0.97;0.956;0.97;0.987;0.97	T	0.53279	-0.8461	10	0.72032	D	0.01	-25.8135	16.0589	0.80826	0.0:1.0:0.0:0.0	.	324;232;311;333;333	B3KTR6;B4DE34;B4E385;Q9BRK3-2;Q9BRK3	.;.;.;.;MXRA8_HUMAN	Q	333;324;232;333	ENSP00000307887:E333Q;ENSP00000344998:E232Q;ENSP00000399229:E333Q	ENSP00000307887:E333Q	E	-	1	0	MXRA8	1279705	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	4.619000	0.61218	2.000000	0.58554	0.450000	0.29827	GAG		0.682	MXRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008282.2	NM_032348		11	60	0	0	0	1	0	11	60				
GAS7	8522	broad.mit.edu	37	17	9846526	9846526	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:9846526C>A	ENST00000432992.2	-	7	803	c.643G>T	c.(643-645)Ggc>Tgc	p.G215C	GAS7_ENST00000540214.1_Intron|GAS7_ENST00000542249.1_Missense_Mutation_p.G151C|GAS7_ENST00000580865.1_Missense_Mutation_p.G75C|GAS7_ENST00000323816.4_Missense_Mutation_p.G155C|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000437099.2_Missense_Mutation_p.G151C|GAS7_ENST00000579158.1_Missense_Mutation_p.G151C|GAS7_ENST00000585266.1_Missense_Mutation_p.G155C|GAS7_ENST00000396115.2_Intron	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	215	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G215S(1)|p.G75S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GCCACGGTGCCGTTGCCTTGG	0.527			T	MLL	AML*																																	ENST00000396115.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		2	Substitution - Missense(2)	p.G215S(1)|p.G75S(1)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(463-465)Ggc>Tgc		growth arrest-specific 7							160.0	144.0	150.0					17																	9846526		2203	4300	6503	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9846526C>A	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.643G>T	17.37:g.9846526C>A	ENSP00000407552:p.Gly215Cys					GAS7_ENST00000542249.1_Missense_Mutation_p.G160C|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000437099.2_Missense_Mutation_p.G151C|GAS7_ENST00000579158.1_Missense_Mutation_p.G167C|GAS7_ENST00000432992.2_Missense_Mutation_p.G215C|GAS7_ENST00000585266.1_Missense_Mutation_p.G151C|GAS7_ENST00000580865.1_Missense_Mutation_p.G75C|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000323816.4_Missense_Mutation_p.G151C	p.G155C	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN			7	773	-			215					A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.463G>T	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931571	0.73442	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000537970;ENST00000541114	T	0.21734	1.99	5.36	5.36	0.76844	Fps/Fes/Fer/CIP4 homology (3);	0.227351	0.37261	N	0.002173	T	0.22475	0.0542	N	0.14661	0.345	0.36879	D	0.889304	D;D;P;D	0.64830	0.994;0.99;0.753;0.99	P;P;P;P	0.62014	0.851;0.851;0.473;0.897	T	0.09058	-1.0692	9	.	.	.	0.1369	8.6147	0.33824	0.0:0.835:0.0:0.165	.	167;155;75;215	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	C	215;155;154;75;155;29	ENSP00000379421:G155C	.	G	-	1	0	GAS7	9787251	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	1.995000	0.40767	2.676000	0.91093	0.655000	0.94253	GGC		0.527	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		56	89	1	0	3.21867e-24	1	3.9721e-24	56	89				
PHACTR3	116154	broad.mit.edu	37	20	58342406	58342406	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:58342406C>G	ENST00000371015.1	+	5	1174	c.707C>G	c.(706-708)aCt>aGt	p.T236S	PHACTR3_ENST00000355648.4_Missense_Mutation_p.T195S|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000395636.2_Missense_Mutation_p.T195S|PHACTR3_ENST00000359926.3_Missense_Mutation_p.T233S|PHACTR3_ENST00000541461.1_Missense_Mutation_p.T195S	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	236	Pro-rich.					nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTGCTGCCCACTCCGCCACCC	0.592																																						ENST00000371015.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59						c.(706-708)aCt>aGt		phosphatase and actin regulator 3							32.0	29.0	30.0					20																	58342406		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58342406C>G	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.707C>G	20.37:g.58342406C>G	ENSP00000360054:p.Thr236Ser					PHACTR3_ENST00000359926.3_Missense_Mutation_p.T233S|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000395636.2_Missense_Mutation_p.T195S|PHACTR3_ENST00000541461.1_Missense_Mutation_p.T195S|PHACTR3_ENST00000355648.4_Missense_Mutation_p.T195S|PHACTR3_ENST00000361300.4_Intron	p.T236S	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		5	1174	+	all_lung(29;0.00344)		236			Pro-rich.		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.707C>G	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	C	5.127	0.209073	0.09757	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000541461;ENST00000355648;ENST00000395636	T;T;T;T;T	0.21932	1.98;1.99;1.99;1.99;1.99	4.7	2.48	0.30137	.	0.963122	0.08671	N	0.910973	T	0.13200	0.0320	L	0.36672	1.1	0.29711	N	0.839416	B;B	0.26318	0.008;0.146	B;B	0.22152	0.006;0.038	T	0.34800	-0.9814	10	0.08381	T	0.77	-14.5976	4.4596	0.11659	0.1775:0.5798:0.0:0.2428	.	236;233	Q96KR7;B1AKX0	PHAR3_HUMAN;.	S	233;236;195;195;195	ENSP00000353002:T233S;ENSP00000360054:T236S;ENSP00000442483:T195S;ENSP00000347866:T195S;ENSP00000378998:T195S	ENSP00000347866:T195S	T	+	2	0	PHACTR3	57775801	0.968000	0.33430	0.974000	0.42286	0.984000	0.73092	1.363000	0.34159	0.976000	0.38417	0.460000	0.39030	ACT		0.592	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		14	40	0	0	0	1	0	14	40				
IGHV4-31	28396	broad.mit.edu	37	14	106805441	106805441	+	RNA	SNP	C	C	A	rs533795597		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:106805441C>A	ENST00000438142.2	-	0	193									immunoglobulin heavy variable 4-31																		AGAGACAGTACAGGTGAGGGA	0.592																																						ENST00000438142.2																			0																				85.0	123.0	111.0					14																	106805441		1943	4139	6082			28396							g.chr14:106805441C>A	L10098		14q32.33	2012-02-08			ENSG00000231475	ENSG00000231475		"""Immunoglobulins / IGH locus"""	5649	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152097		14.37:g.106805441C>A														0	193	-									RNA	SNP	ENST00000438142.2	37																																																																																						0.592	IGHV4-31-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325194.1	NG_001019		11	106	1	0	1.61879e-10	1	1.81355e-10	11	106				
VPS11	55823	broad.mit.edu	37	11	118939912	118939912	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:118939912G>C	ENST00000300793.6	+	2	235	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	RP11-110I1.13_ENST00000607709.1_RNA|VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	65					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TGCACATATGGAAGGCCAGAT	0.433																																						ENST00000300793.6																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29						c.(193-195)Gaa>Caa		vacuolar protein sorting 11 homolog (S. cerevisiae)							121.0	118.0	119.0					11																	118939912		1924	4129	6053	SO:0001583	missense	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118939912G>C	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.193G>C	11.37:g.118939912G>C	ENSP00000475301:p.Glu65Gln					VPS11_ENST00000527798.1_3'UTR	p.E65Q	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	2	235	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	65					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37	c.193G>C																																																																																					0.433	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		13	141	0	0	0	1	0	13	141				
TLR7	51284	broad.mit.edu	37	X	12904934	12904934	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:12904934C>G	ENST00000380659.3	+	3	1446	c.1307C>G	c.(1306-1308)tCa>tGa	p.S436*		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	436					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	ATATCACCTTCAGGAGATTCA	0.343																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(1306-1308)tCa>tGa		toll-like receptor 7	Imiquimod(DB00724)						59.0	64.0	62.0					X																	12904934		2183	4287	6470	SO:0001587	stop_gained	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12904934C>G	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1307C>G	X.37:g.12904934C>G	ENSP00000370034:p.Ser436*						p.S436*	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	1446	+			436					D1CS69|Q9NR98	Nonsense_Mutation	SNP	ENST00000380659.3	37	c.1307C>G	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	37	6.346668	0.97494	.	.	ENSG00000196664	ENST00000380659	.	.	.	5.84	5.84	0.93424	.	0.221046	0.39020	N	0.001493	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	19.1345	0.93420	0.0:1.0:0.0:0.0	.	.	.	.	X	436	.	ENSP00000370034:S436X	S	+	2	0	TLR7	12814855	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.890000	0.63178	2.469000	0.83416	0.600000	0.82982	TCA		0.343	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		50	70	0	0	0	1	0	50	70				
SMS	6611	broad.mit.edu	37	X	21985363	21985363	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:21985363G>T	ENST00000404933.2	+	2	351	c.99G>T	c.(97-99)caG>caT	p.Q33H	SMS_ENST00000379404.1_Missense_Mutation_p.Q33H|SMS_ENST00000478094.1_3'UTR|SMS_ENST00000415881.2_5'UTR	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	33					cellular nitrogen compound metabolic process (GO:0034641)|methionine metabolic process (GO:0006555)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	spermidine synthase activity (GO:0004766)|spermine synthase activity (GO:0016768)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TCCAGGAGCAGGGGATGGCGG	0.512																																						ENST00000404933.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14						c.(97-99)caG>caT		spermine synthase	Spermine(DB00127)						66.0	58.0	61.0					X																	21985363		2203	4297	6500	SO:0001583	missense	6611				methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity	g.chrX:21985363G>T	AD001528	CCDS14203.1, CCDS59161.1	Xp22.1	2014-05-16			ENSG00000102172	ENSG00000102172			11123	protein-coding gene	gene with protein product		300105	"""Snyder-Robinson X-linked mental retardation syndrome"""	SRS		7546290, 9299240, 14508504	Standard	NM_004595		Approved	SPMSY, SpS, MRSR	uc004dag.4	P52788	OTTHUMG00000021239	ENST00000404933.2:c.99G>T	X.37:g.21985363G>T	ENSP00000385746:p.Gln33His					SMS_ENST00000379404.1_Missense_Mutation_p.Q33H|SMS_ENST00000415881.2_5'UTR|SMS_ENST00000478094.1_3'UTR	p.Q33H	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN			2	351	+			33					A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Missense_Mutation	SNP	ENST00000404933.2	37	c.99G>T	CCDS14203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.14|11.14	1.550198|1.550198	0.27652|0.27652	.|.	.|.	ENSG00000102172|ENSG00000102172	ENST00000457085|ENST00000404933;ENST00000379404	.|D;D	.|0.86230	.|-1.79;-2.09	5.19|5.19	0.261|0.261	0.15592|0.15592	.|.	.|0.126644	.|0.56097	.|N	.|0.000038	T|T	0.78666|0.78666	0.4319|0.4319	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|B;B	.|0.27416	.|0.178;0.036	.|B;B	.|0.18263	.|0.013;0.021	T|T	0.65071|0.65071	-0.6257|-0.6257	5|10	.|0.87932	.|D	.|0	-15.3515|-15.3515	12.1563|12.1563	0.54079|0.54079	0.3377:0.0:0.6623:0.0|0.3377:0.0:0.6623:0.0	.|.	.|33;33	.|P52788;P52788-2	.|SPSY_HUMAN;.	W|H	125|33	.|ENSP00000385746:Q33H;ENSP00000368714:Q33H	.|ENSP00000368714:Q33H	G|Q	+|+	1|3	0|2	SMS|SMS	21895284|21895284	1.000000|1.000000	0.71417|0.71417	0.699000|0.699000	0.30290|0.30290	0.511000|0.511000	0.34104|0.34104	2.345000|2.345000	0.44018|0.44018	-0.822000|-0.822000	0.04306|0.04306	-0.905000|-0.905000	0.02835|0.02835	GGG|CAG		0.512	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056032.1	NM_004595		23	43	1	0	5.45024e-15	1	6.37491e-15	23	43				
SLITRK2	84631	broad.mit.edu	37	X	144906109	144906109	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:144906109C>A	ENST00000370490.1	+	1	6421	c.2166C>A	c.(2164-2166)aaC>aaA	p.N722K	SLITRK2_ENST00000413937.2_Missense_Mutation_p.N722K|SLITRK2_ENST00000434188.2_Missense_Mutation_p.N722K|SLITRK2_ENST00000447897.2_Missense_Mutation_p.N722K|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000428560.2_Missense_Mutation_p.N722K			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	722					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GCTATAGCAACCTGGAGGAGA	0.517																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(2164-2166)aaC>aaA		SLIT and NTRK-like family, member 2							86.0	91.0	89.0					X																	144906109		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144906109C>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2166C>A	X.37:g.144906109C>A	ENSP00000359521:p.Asn722Lys					SLITRK2_ENST00000434188.2_Missense_Mutation_p.N722K|SLITRK2_ENST00000428560.2_Missense_Mutation_p.N722K|SLITRK2_ENST00000413937.2_Missense_Mutation_p.N722K|SLITRK2_ENST00000447897.2_Missense_Mutation_p.N722K	p.N722K			Q9H156	SLIK2_HUMAN			1	6421	+	Acute lymphoblastic leukemia(192;6.56e-05)		722					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.2166C>A	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	1.461	-0.562369	0.03939	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.51325	0.84;0.71;0.71;0.71;0.71;0.71	5.34	4.35	0.52113	.	0.250321	0.38605	N	0.001625	T	0.21881	0.0527	N	0.08118	0	0.25356	N	0.988827	B	0.02656	0.0	B	0.01281	0.0	T	0.03514	-1.1029	10	0.31617	T	0.26	-12.1785	2.952	0.05865	0.2734:0.5577:0.0:0.1689	.	722	Q9H156	SLIK2_HUMAN	K	722	ENSP00000334374:N722K;ENSP00000411681:N722K;ENSP00000359521:N722K;ENSP00000397015:N722K;ENSP00000407347:N722K;ENSP00000412010:N722K	ENSP00000334374:N722K	N	+	3	2	SLITRK2	144713801	0.992000	0.36948	1.000000	0.80357	0.739000	0.42172	0.265000	0.18515	2.224000	0.72417	0.513000	0.50165	AAC		0.517	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		51	120	1	0	8.00217e-19	1	9.62677e-19	51	120				
RALGAPB	57148	broad.mit.edu	37	20	37182548	37182548	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:37182548C>G	ENST00000262879.6	+	22	3485	c.3201C>G	c.(3199-3201)gcC>gcG	p.A1067A	RALGAPB_ENST00000397038.1_Silent_p.A845A|RALGAPB_ENST00000397040.1_Silent_p.A1067A|RALGAPB_ENST00000397042.3_Silent_p.A1063A			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1067					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTGGCATGGCCCAGCAGATTG	0.403																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(3199-3201)gcC>gcG		Ral GTPase activating protein, beta subunit (non-catalytic)							69.0	67.0	68.0					20																	37182548		2203	4300	6503	SO:0001819	synonymous_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37182548C>G	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3201C>G	20.37:g.37182548C>G						RALGAPB_ENST00000397042.3_Silent_p.A1063A|RALGAPB_ENST00000397040.1_Silent_p.A1067A|RALGAPB_ENST00000397038.1_Silent_p.A845A	p.A1067A			Q86X10	RLGPB_HUMAN			22	3485	+			1067					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Silent	SNP	ENST00000262879.6	37	c.3201C>G	CCDS13305.1																																																																																				0.403	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		12	42	0	0	0	1	0	12	42				
DEPDC7	91614	broad.mit.edu	37	11	33053026	33053026	+	Silent	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:33053026A>G	ENST00000241051.3	+	5	977	c.885A>G	c.(883-885)acA>acG	p.T295T	DEPDC7_ENST00000311388.3_Silent_p.T286T	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	295					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						CAGACCGAACAGACTTAGTGA	0.423																																						ENST00000311388.3																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						c.(856-858)acA>acG		DEP domain containing 7							118.0	112.0	113.0					11																	33053026		1865	4103	5968	SO:0001819	synonymous_variant	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33053026A>G		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.885A>G	11.37:g.33053026A>G						DEPDC7_ENST00000241051.3_Silent_p.T295T	p.T286T	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN			5	1234	+			295					G5E941|Q8N602|Q8NCU9|Q9UGK5	Silent	SNP	ENST00000241051.3	37	c.858A>G	CCDS41632.1																																																																																				0.423	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		29	40	0	0	0	1	0	29	40				
REST	5978	broad.mit.edu	37	4	57797436	57797436	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:57797436C>G	ENST00000309042.7	+	4	2726	c.2412C>G	c.(2410-2412)ccC>ccG	p.P804P		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	804	Pro-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GAGAGCCTCCCCTTCACATGG	0.527																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(2410-2412)ccC>ccG		RE1-silencing transcription factor							100.0	112.0	108.0					4																	57797436		2203	4300	6503	SO:0001819	synonymous_variant	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57797436C>G	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2412C>G	4.37:g.57797436C>G							p.P804P	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	2726	+	Glioma(25;0.08)|all_neural(26;0.181)		804			Pro-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Silent	SNP	ENST00000309042.7	37	c.2412C>G	CCDS3509.1																																																																																				0.527	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		44	180	0	0	0	1	0	44	180				
RP1L1	94137	broad.mit.edu	37	8	10465632	10465632	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:10465632C>G	ENST00000382483.3	-	4	6199	c.5976G>C	c.(5974-5976)gaG>gaC	p.E1992D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2072	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGCTGGGCCTCCCCTTCTG	0.592																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(5974-5976)gaG>gaC		retinitis pigmentosa 1-like 1							172.0	188.0	183.0					8																	10465632		1976	4160	6136	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465632C>G	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5976G>C	8.37:g.10465632C>G	ENSP00000371923:p.Glu1992Asp						p.E1992D	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6199	-			1992					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.5976G>C	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	8.840	0.942077	0.18281	.	.	ENSG00000183638	ENST00000382483	T	0.04970	3.52	1.24	0.184	0.15086	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	P	0.38110	0.618	B	0.37780	0.258	T	0.43475	-0.9389	9	0.25106	T	0.35	.	3.6752	0.08290	0.0:0.3405:0.0:0.6595	.	1992	A6NKC6	.	D	1992	ENSP00000371923:E1992D	ENSP00000371923:E1992D	E	-	3	2	RP1L1	10503042	0.000000	0.05858	0.149000	0.22428	0.311000	0.27955	-0.648000	0.05391	0.535000	0.28714	0.305000	0.20034	GAG		0.592	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			32	541	0	0	0	1	0	32	541				
RPH3AL	9501	broad.mit.edu	37	17	96936	96936	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:96936C>G	ENST00000331302.7	-	7	886	c.579G>C	c.(577-579)gaG>gaC	p.E193D	RPH3AL_ENST00000536489.2_Missense_Mutation_p.E164D|RPH3AL_ENST00000576001.1_5'UTR|RPH3AL_ENST00000323434.8_Missense_Mutation_p.E164D	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	193					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		TGCGGCTGGTCTCAGAGCTTC	0.607																																						ENST00000323434.8																			0				NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6						c.(490-492)gaG>gaC		rabphilin 3A-like (without C2 domains)							88.0	83.0	84.0					17																	96936		2203	4300	6503	SO:0001583	missense	9501				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding	g.chr17:96936C>G		CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"""Synaptotagmins"""	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.579G>C	17.37:g.96936C>G	ENSP00000328977:p.Glu193Asp					RPH3AL_ENST00000536489.2_Missense_Mutation_p.E164D|RPH3AL_ENST00000331302.7_Missense_Mutation_p.E193D|RPH3AL_ENST00000576001.1_5'UTR	p.E164D	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)	6	1089	-			193					D3DTG7|Q9BSB3	Missense_Mutation	SNP	ENST00000331302.7	37	c.492G>C	CCDS10994.1	.	.	.	.	.	.	.	.	.	.	c	2.583	-0.297064	0.05532	.	.	ENSG00000181031	ENST00000323434;ENST00000331302;ENST00000536489	.	.	.	5.06	2.86	0.33363	.	0.433999	0.19634	N	0.109617	T	0.32376	0.0827	L	0.57536	1.79	0.09310	N	1	B;P;P	0.50819	0.231;0.939;0.731	B;P;B	0.46076	0.073;0.503;0.225	T	0.10405	-1.0631	9	0.17369	T	0.5	-32.9872	5.9275	0.19120	0.0:0.6212:0.176:0.2028	.	164;164;193	A8K7D5;Q9UNE2-2;Q9UNE2	.;.;RPH3L_HUMAN	D	193;164;164	.	ENSP00000319210:E193D	E	-	3	2	RPH3AL	96936	0.001000	0.12720	0.567000	0.28434	0.058000	0.15608	0.748000	0.26305	1.121000	0.41925	0.544000	0.68410	GAG		0.607	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2	NM_006987		13	84	0	0	0	1	0	13	84				
HP1BP3	50809	broad.mit.edu	37	1	21099981	21099981	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:21099981C>A	ENST00000312239.5	-	5	612	c.473G>T	c.(472-474)cGt>cTt	p.R158L	HP1BP3_ENST00000487117.1_5'Flank|HP1BP3_ENST00000375003.2_Missense_Mutation_p.R6L	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	158	H15 1. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CATCTTGGGACGTGGGGAAGA	0.403																																						ENST00000375003.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16						c.(16-18)cGt>cTt		heterochromatin protein 1, binding protein 3							122.0	121.0	121.0					1																	21099981		2203	4300	6503	SO:0001583	missense	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21099981C>A	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.473G>T	1.37:g.21099981C>A	ENSP00000312625:p.Arg158Leu					HP1BP3_ENST00000312239.5_Missense_Mutation_p.R158L	p.R6L			Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	1	1517	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	158					A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	ENST00000312239.5	37	c.17G>T	CCDS30621.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316063	0.81469	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000375003;ENST00000419948;ENST00000438032;ENST00000424732	T;T;T;T	0.50001	0.83;0.76;1.83;1.85	6.16	5.25	0.73442	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.320120	0.40469	N	0.001088	T	0.41789	0.1174	N	0.01668	-0.77	0.80722	D	1	B;D	0.71674	0.305;0.998	B;D	0.79108	0.092;0.992	T	0.59773	-0.7391	10	0.33940	T	0.23	-7.971	15.7724	0.78180	0.0:0.935:0.0:0.065	.	120;158	Q5SSJ5-2;Q5SSJ5	.;HP1B3_HUMAN	L	158;120;6;44;158;120	ENSP00000312625:R158L;ENSP00000364142:R6L;ENSP00000403039:R158L;ENSP00000402754:R120L	ENSP00000312625:R158L	R	-	2	0	HP1BP3	20972568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.333000	0.65917	1.623000	0.50342	0.650000	0.86243	CGT		0.403	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287		28	45	1	0	5.09552e-08	1	5.58637e-08	28	45				
HERC5	51191	broad.mit.edu	37	4	89400632	89400632	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:89400632C>G	ENST00000264350.3	+	13	1864	c.1711C>G	c.(1711-1713)Cta>Gta	p.L571V	HERC5_ENST00000508159.1_Missense_Mutation_p.L209V	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	571					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TCAAGCTCTCCTAGAAATGTT	0.418																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(1711-1713)Cta>Gta		HECT and RLD domain containing E3 ubiquitin protein ligase 5							110.0	108.0	109.0					4																	89400632		2203	4300	6503	SO:0001583	missense	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89400632C>G	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1711C>G	4.37:g.89400632C>G	ENSP00000264350:p.Leu571Val					HERC5_ENST00000508159.1_Missense_Mutation_p.L209V	p.L571V	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	13	1864	+		Hepatocellular(203;0.114)	571					B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	c.1711C>G	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469976	0.43839	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.45276	0.9;0.98	4.82	3.07	0.35406	.	0.581536	0.13589	N	0.376775	T	0.41166	0.1147	M	0.69823	2.125	0.20307	N	0.999914	B	0.10296	0.003	B	0.17722	0.019	T	0.43114	-0.9411	10	0.87932	D	0	.	6.5928	0.22656	0.0:0.7222:0.1808:0.097	.	571	Q9UII4	HERC5_HUMAN	V	571;209	ENSP00000264350:L571V;ENSP00000424129:L209V	ENSP00000264350:L571V	L	+	1	2	HERC5	89619655	0.993000	0.37304	0.715000	0.30552	0.743000	0.42351	1.147000	0.31602	0.623000	0.30267	-0.291000	0.09656	CTA		0.418	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		15	57	0	0	0	1	0	15	57				
PCDHGB3	56102	broad.mit.edu	37	5	140751546	140751546	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140751546G>C	ENST00000576222.1	+	1	1716	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q	PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	529	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGCCTTCGAGCTCACTCT	0.692																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1585-1587)Gag>Cag									35.0	41.0	39.0					5																	140751546		2130	4228	6358	SO:0001583	missense	56102							g.chr5:140751546G>C	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1585G>C	5.37:g.140751546G>C	ENSP00000461862:p.Glu529Gln					PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	p.E529Q	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1716	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1585G>C	CCDS58980.1																																																																																				0.692	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		11	58	0	0	0	1	0	11	58				
SPG21	51324	broad.mit.edu	37	15	65262485	65262485	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:65262485C>T	ENST00000204566.2	-	6	823	c.528G>A	c.(526-528)atG>atA	p.M176I	SPG21_ENST00000559199.1_Missense_Mutation_p.M22I|SPG21_ENST00000433215.2_Missense_Mutation_p.M176I|SPG21_ENST00000416889.2_Missense_Mutation_p.M149I	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	176					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CATCAGCCATCATAGGGTCCA	0.408																																						ENST00000559199.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(64-66)atG>atA		spastic paraplegia 21 (autosomal recessive, Mast syndrome)							233.0	250.0	244.0					15																	65262485		2202	4299	6501	SO:0001583	missense	51324				cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding	g.chr15:65262485C>T	AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"""maspardin"""	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.528G>A	15.37:g.65262485C>T	ENSP00000204566:p.Met176Ile					SPG21_ENST00000204566.2_Missense_Mutation_p.M176I|SPG21_ENST00000433215.2_Missense_Mutation_p.M176I|SPG21_ENST00000416889.2_Missense_Mutation_p.M149I	p.M22I			Q9NZD8	SPG21_HUMAN			4	1066	-			176					B4DW44|Q6ZMB6	Missense_Mutation	SNP	ENST00000204566.2	37	c.66G>A	CCDS10198.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935694	0.34189	.	.	ENSG00000090487	ENST00000204566;ENST00000416889;ENST00000433215	T;T;T	0.66638	-0.22;-0.22;-0.22	6.02	1.7	0.24286	.	0.594745	0.20211	N	0.096910	T	0.37073	0.0990	N	0.08118	0	0.26673	N	0.971687	B;B	0.09022	0.002;0.001	B;B	0.08055	0.001;0.003	T	0.12167	-1.0558	10	0.37606	T	0.19	-33.7261	1.0699	0.01619	0.2709:0.3863:0.1319:0.2109	.	149;176	Q9NZD8-2;Q9NZD8	.;SPG21_HUMAN	I	176;149;176	ENSP00000204566:M176I;ENSP00000394846:M149I;ENSP00000404111:M176I	ENSP00000204566:M176I	M	-	3	0	SPG21	63049538	1.000000	0.71417	0.913000	0.36048	0.971000	0.66376	1.126000	0.31344	0.370000	0.24538	-0.169000	0.13324	ATG		0.408	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256758.3	NM_016630		116	224	0	0	0	1	0	116	224				
NDUFAF3	25915	broad.mit.edu	37	3	49061949	49061949	+	IGR	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:49061949C>G	ENST00000326925.6	+	0	2012				IMPDH2_ENST00000326739.4_Missense_Mutation_p.G501A|DALRD3_ENST00000496568.1_5'Flank	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						ATGGACGCCACCTTCCACCTG	0.567																																						ENST00000326739.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16						c.(1501-1503)gGt>gCt		IMP (inosine 5'-monophosphate) dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						130.0	117.0	121.0					3																	49061949		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49061949C>G		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773		3.37:g.49061949C>G							p.G501A	NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	13	1541	-			501						Missense_Mutation	SNP	ENST00000326925.6	37	c.1502G>C	CCDS2784.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.853322|4.853322	0.91355|0.91355	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000326739|ENST00000429182	T|.	0.80123|.	-1.34|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83995|0.83995	0.5375|0.5375	M|M	0.86420|0.86420	2.815|2.815	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.76575|.	0.988|.	D|D	0.85194|0.85194	0.1011|0.1011	10|5	0.72032|.	D|.	0.01|.	-16.6214|-16.6214	19.7926|19.7926	0.96466|0.96466	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	501|.	P12268|.	IMDH2_HUMAN|.	A|S	501|456	ENSP00000321584:G501A|.	ENSP00000321584:G501A|.	G|R	-|-	2|3	0|2	IMPDH2|IMPDH2	49036953|49036953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.403000|7.403000	0.79983|0.79983	2.670000|2.670000	0.90874|0.90874	0.655000|0.655000	0.94253|0.94253	GGT|AGG		0.567	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		14	82	0	0	0	1	0	14	82				
PFKM	5213	broad.mit.edu	37	12	48524145	48524145	+	Splice_Site	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:48524145G>C	ENST00000312352.7	+	3	124		c.e3-1		PFKM_ENST00000340802.6_Splice_Site|PFKM_ENST00000395233.2_Splice_Site|PFKM_ENST00000551804.1_Splice_Site|PFKM_ENST00000547587.1_Splice_Site|PFKM_ENST00000551548.1_Splice_Site|PFKM_ENST00000359794.5_Splice_Site	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CCTCCTTTCAGGTATGAATGC	0.468																																						ENST00000340802.6																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.e5-1		phosphofructokinase, muscle							297.0	269.0	279.0					12																	48524145		2203	4300	6503	SO:0001630	splice_region_variant	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48524145G>C	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.86-1G>C	12.37:g.48524145G>C						PFKM_ENST00000551804.1_Splice_Site|PFKM_ENST00000551548.1_Splice_Site|PFKM_ENST00000312352.7_Splice_Site|PFKM_ENST00000547587.1_Splice_Site|PFKM_ENST00000359794.5_Splice_Site|PFKM_ENST00000395233.2_Splice_Site		NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			5	522	+								J3KNX3|Q16814|Q16815|Q6ZTT1	Splice_Site	SNP	ENST00000312352.7	37		CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675140	0.67928	.	.	ENSG00000152556	ENST00000550345;ENST00000549003;ENST00000550924;ENST00000549941;ENST00000550257;ENST00000340802;ENST00000549366;ENST00000552792;ENST00000548288;ENST00000359794;ENST00000551339;ENST00000395233;ENST00000548345;ENST00000551804;ENST00000549022;ENST00000547587;ENST00000312352	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2503	0.87040	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PFKM	46810412	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	9.497000	0.97970	2.682000	0.91365	0.650000	0.86243	.		0.468	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289	Intron	5	136	0	0	0	1	0	5	136				
LTBP1	4052	broad.mit.edu	37	2	33588469	33588469	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:33588469G>A	ENST00000404816.2	+	29	4636	c.4283G>A	c.(4282-4284)tGc>tAc	p.C1428Y	LTBP1_ENST00000407925.1_Missense_Mutation_p.C1102Y|LTBP1_ENST00000418533.2_Missense_Mutation_p.C1060Y|LTBP1_ENST00000272273.5_Missense_Mutation_p.C326Y|LTBP1_ENST00000390003.4_Missense_Mutation_p.C1103Y|LTBP1_ENST00000404525.1_Missense_Mutation_p.C1049Y|LTBP1_ENST00000402934.1_Missense_Mutation_p.C1047Y|LTBP1_ENST00000354476.3_Missense_Mutation_p.C1429Y			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1428	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCAGATGAATGCCTACTTTTT	0.383																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(4282-4284)tGc>tAc		latent transforming growth factor beta binding protein 1							115.0	106.0	109.0					2																	33588469		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33588469G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4283G>A	2.37:g.33588469G>A	ENSP00000386043:p.Cys1428Tyr					LTBP1_ENST00000354476.3_Missense_Mutation_p.C1429Y|LTBP1_ENST00000402934.1_Missense_Mutation_p.C1047Y|LTBP1_ENST00000407925.1_Missense_Mutation_p.C1102Y|LTBP1_ENST00000418533.2_Missense_Mutation_p.C1060Y|LTBP1_ENST00000404525.1_Missense_Mutation_p.C1049Y|LTBP1_ENST00000272273.5_Missense_Mutation_p.C326Y|LTBP1_ENST00000390003.4_Missense_Mutation_p.C1103Y	p.C1428Y			Q14766	LTBP1_HUMAN			29	4636	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1428			EGF-like 15; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.4283G>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181929	0.78677	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273;ENST00000422669	D;D;D;D;D;D;D;D;D	0.99945	-8.57;-8.57;-8.57;-8.57;-8.57;-8.57;-8.57;-8.57;-1.95	5.34	5.34	0.76211	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);	.	.	.	.	D	0.99967	0.9988	H	0.99435	4.565	0.80722	D	1	D;D;P;D;P;P;D	0.89917	1.0;1.0;0.91;1.0;0.907;0.907;1.0	D;D;P;D;P;P;D	0.91635	0.999;0.999;0.783;0.996;0.892;0.892;0.999	D	0.96651	0.9481	9	0.66056	D	0.02	.	19.0478	0.93028	0.0:0.0:1.0:0.0	.	326;1428;1060;1049;1102;1103;1429	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	Y	1428;1429;1103;1060;1047;1049;1102;326;264	ENSP00000386043:C1428Y;ENSP00000346467:C1429Y;ENSP00000374653:C1103Y;ENSP00000393057:C1060Y;ENSP00000384373:C1047Y;ENSP00000385359:C1049Y;ENSP00000384091:C1102Y;ENSP00000272273:C326Y;ENSP00000395211:C264Y	ENSP00000272273:C326Y	C	+	2	0	LTBP1	33441973	1.000000	0.71417	0.995000	0.50966	0.929000	0.56500	9.869000	0.99810	2.502000	0.84385	0.563000	0.77884	TGC		0.383	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		17	36	0	0	0	1	0	17	36				
SH3BP1	23616	broad.mit.edu	37	22	38040921	38040921	+	Silent	SNP	G	G	A	rs142684855	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:38040921G>A	ENST00000357436.4	+	9	1045	c.732G>A	c.(730-732)tcG>tcA	p.S244S	SH3BP1_ENST00000336738.5_Silent_p.S244S|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Silent_p.S180S|SH3BP1_ENST00000442465.2_Silent_p.S244S|SH3BP1_ENST00000495174.1_3'UTR	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	244	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CACTGAGCTCGCTGGACACAG	0.632													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18956	0.0		0.0	False		,,,				2504	0.0					ENST00000599616.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(538-540)tcG>tcA		SH3-domain binding protein 1		G		13,4393	20.2+/-43.8	0,13,2190	53.0	44.0	47.0		732	-10.1	0.0	22	dbSNP_134	47	0,8600		0,0,4300	no	coding-synonymous	SH3BP1	NM_018957.3		0,13,6490	AA,AG,GG		0.0,0.2951,0.1		244/702	38040921	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38040921G>A		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.732G>A	22.37:g.38040921G>A						SH3BP1_ENST00000357436.4_Silent_p.S244S|SH3BP1_ENST00000336738.5_Silent_p.S244S|SH3BP1_ENST00000495174.1_3'UTR|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Silent_p.S244S	p.S180S			Q9Y3L3	3BP1_HUMAN			7	540	+	Melanoma(58;0.0574)		244			BAR.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Silent	SNP	ENST00000357436.4	37	c.540G>A	CCDS13952.2																																																																																				0.632	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		10	22	0	0	0	1	0	10	22				
NELL1	4745	broad.mit.edu	37	11	21592315	21592315	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:21592315C>T	ENST00000357134.5	+	18	2138	c.1986C>T	c.(1984-1986)ggC>ggT	p.G662G	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Silent_p.G605G|NELL1_ENST00000532434.1_Silent_p.G615G|NELL1_ENST00000298925.5_Silent_p.G690G	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	662					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AACAGGATGGCAAGATATTCT	0.438																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(2068-2070)ggC>ggT		NEL-like 1 (chicken)							109.0	101.0	104.0					11																	21592315		2203	4300	6503	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21592315C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1986C>T	11.37:g.21592315C>T						NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Silent_p.G615G|NELL1_ENST00000357134.5_Silent_p.G662G|NELL1_ENST00000325319.5_Silent_p.G605G	p.G690G			Q92832	NELL1_HUMAN			19	2223	+			662					B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.2070C>T	CCDS7855.1																																																																																				0.438	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		15	58	0	0	0	1	0	15	58				
ZNF804B	219578	broad.mit.edu	37	7	88956679	88956679	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:88956679C>A	ENST00000333190.4	+	3	880	c.271C>A	c.(271-273)Cgg>Agg	p.R91R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	91							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATTAAAGCAACGGGAATTTGC	0.338										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(271-273)Cgg>Agg		zinc finger protein 804B							69.0	73.0	72.0					7																	88956679		2203	4299	6502	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88956679C>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.271C>A	7.37:g.88956679C>A		HNSCC(36;0.09)					p.R91R	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		3	880	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		91					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.271C>A	CCDS5613.1																																																																																				0.338	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		15	39	1	0	1.52009e-12	1	1.73276e-12	15	39				
PCDHA13	56136	broad.mit.edu	37	5	140262214	140262214	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140262214G>C	ENST00000289272.2	+	1	361	c.361G>C	c.(361-363)Gtg>Ctg	p.V121L	PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.V121L|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	121	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGTGGAGGTGAAGGTGAG	0.542																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(361-363)Gtg>Ctg									131.0	138.0	136.0					5																	140262214		2203	4300	6503	SO:0001583	missense	56136							g.chr5:140262214G>C	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.361G>C	5.37:g.140262214G>C	ENSP00000289272:p.Val121Leu					PCDHA13_ENST00000409494.1_Missense_Mutation_p.V121L|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron	p.V121L	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	361	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.361G>C	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803201	0.70682	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.53857	0.6;0.6	5.49	5.49	0.81192	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.70456	0.3226	L	0.58583	1.82	0.34207	D	0.673828	D;P;D	0.71674	0.998;0.956;0.996	D;P;D	0.72338	0.925;0.631;0.977	T	0.77920	-0.2407	9	0.66056	D	0.02	.	18.9549	0.92654	0.0:0.0:1.0:0.0	.	121;121;121	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	L	121	ENSP00000386821:V121L;ENSP00000289272:V121L	ENSP00000289272:V121L	V	+	1	0	PCDHA13	140242398	0.943000	0.32029	1.000000	0.80357	0.771000	0.43674	1.354000	0.34056	2.573000	0.86826	0.491000	0.48974	GTG		0.542	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		14	202	0	0	0	1	0	14	202				
TTN	7273	broad.mit.edu	37	2	179452804	179452804	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179452804C>T	ENST00000591111.1	-	255	58631	c.58407G>A	c.(58405-58407)gcG>gcA	p.A19469A	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.A18542A|TTN_ENST00000342175.6_Silent_p.A12237A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Silent_p.A21110A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.A12170A|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.A12045A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19469	Fibronectin type-III 41. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCAGGAGACGCATCTGCTA	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(63328-63330)gcG>gcA		titin							99.0	96.0	97.0					2																	179452804		1993	4167	6160	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179452804C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58407G>A	2.37:g.179452804C>T						TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.A18542A|TTN_ENST00000460472.2_Silent_p.A12045A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.A12237A|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.A12170A|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.A19469A|TTN-AS1_ENST00000590807.1_RNA	p.A21110A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		305	63554	-			19469			Fibronectin type-III 53.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.63330G>A																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	50	0	0	0	1	0	4	50				
CSPG4	1464	broad.mit.edu	37	15	75979935	75979935	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:75979935G>C	ENST00000308508.5	-	3	3563	c.3471C>G	c.(3469-3471)gaC>gaG	p.D1157E		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1157	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CACTGCGGATGTCGAGGTTGG	0.657																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(3469-3471)gaC>gaG		chondroitin sulfate proteoglycan 4							75.0	75.0	75.0					15																	75979935		2197	4294	6491	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75979935G>C	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3471C>G	15.37:g.75979935G>C	ENSP00000312506:p.Asp1157Glu						p.D1157E	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	3563	-			1157			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.3471C>G	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	34	5.356716	0.95854	.	.	ENSG00000173546	ENST00000308508	T	0.24350	1.86	5.01	-0.226	0.13106	.	0.000000	0.64402	D	0.000001	T	0.45816	0.1361	M	0.78049	2.395	0.51767	D	0.999933	D	0.76494	0.999	D	0.85130	0.997	T	0.33163	-0.9879	10	0.72032	D	0.01	.	8.9518	0.35794	0.4598:0.0:0.5402:0.0	.	1157	Q6UVK1	CSPG4_HUMAN	E	1157	ENSP00000312506:D1157E	ENSP00000312506:D1157E	D	-	3	2	CSPG4	73766990	1.000000	0.71417	0.965000	0.40720	0.944000	0.59088	1.733000	0.38156	-0.330000	0.08514	-0.422000	0.05995	GAC		0.657	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		5	116	0	0	0	1	0	5	116				
LCN10	414332	broad.mit.edu	37	9	139634424	139634424	+	Silent	SNP	G	G	T	rs376710313		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:139634424G>T	ENST00000474369.1	-	4	512	c.513C>A	c.(511-513)gcC>gcA	p.A171A	LCN6_ENST00000435202.1_3'UTR|LCN10_ENST00000497771.1_Silent_p.A184A|LCN6_ENST00000480584.1_5'Flank|LCN10_ENST00000527229.1_Silent_p.A148A			Q6JVE6	LCN10_HUMAN	lipocalin 10	171					transport (GO:0006810)	extracellular region (GO:0005576)				breast(2)|cervix(1)|large_intestine(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		GGATGACGGCGGCCTTGGAGA	0.562																																						ENST00000497771.1																			0				breast(2)|cervix(1)|large_intestine(1)	4						c.(550-552)gcC>gcA		lipocalin 10							88.0	68.0	75.0					9																	139634424		2202	4300	6502	SO:0001819	synonymous_variant	414332				transport	extracellular region	binding	g.chr9:139634424G>T	AY301271	CCDS35182.2	9q34.3	2011-10-24			ENSG00000187922	ENSG00000187922		"""Lipocalins"""	20892	protein-coding gene	gene with protein product		612904				15363845	Standard	NM_001001712		Approved		uc004civ.3	Q6JVE6	OTTHUMG00000150428	ENST00000474369.1:c.513C>A	9.37:g.139634424G>T						LCN6_ENST00000435202.1_3'UTR|LCN10_ENST00000527229.1_Silent_p.A148A|LCN10_ENST00000474369.1_Silent_p.A171A	p.A184A	NM_001001712.2	NP_001001712.2	Q6JVE6	LCN10_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)	5	607	-	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	171					A2RUU3|B0QZ79	Silent	SNP	ENST00000474369.1	37	c.552C>A	CCDS35182.2																																																																																				0.562	LCN10-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318062.2	NM_001001712		3	4	1	0	6.4e-05	1	6.72845e-05	3	4				
CDHR5	53841	broad.mit.edu	37	11	618910	618910	+	Missense_Mutation	SNP	G	G	C	rs148641095		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:618910G>C	ENST00000358353.3	-	14	1971	c.1649C>G	c.(1648-1650)cCg>cGg	p.P550R	IRF7_ENST00000397562.3_5'Flank|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000330243.5_5'Flank|CDHR5_ENST00000397542.2_Missense_Mutation_p.P550R|CDHR5_ENST00000349570.7_Intron|IRF7_ENST00000397574.2_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	550	4 X 31 AA approximate tandem repeats.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGGGGGCATCGGCTGAGAGGT	0.677																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(1648-1650)cCg>cGg		cadherin-related family member 5							93.0	105.0	101.0					11																	618910		2203	4300	6503	SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:618910G>C	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1649C>G	11.37:g.618910G>C	ENSP00000351118:p.Pro550Arg					CDHR5_ENST00000397542.2_Missense_Mutation_p.P550R|CDHR5_ENST00000349570.7_Intron	p.P550R			Q9HBB8	CDHR5_HUMAN			14	1971	-			550			4 X 31 AA approximate tandem repeats.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	c.1649C>G	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136131	0.37728	.	.	ENSG00000099834	ENST00000397542;ENST00000358353	T;T	0.47177	0.85;0.85	3.4	1.37	0.22104	.	0.290177	0.18927	N	0.127304	T	0.48040	0.1478	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.996;0.999	P;D	0.73380	0.891;0.98	T	0.25779	-1.0122	10	0.38643	T	0.18	.	5.1893	0.15201	0.3028:0.0:0.6972:0.0	.	544;550	Q9HBB8-4;Q9HBB8	.;CDHR5_HUMAN	R	550	ENSP00000380676:P550R;ENSP00000351118:P550R	ENSP00000351118:P550R	P	-	2	0	CDHR5	608910	0.000000	0.05858	0.005000	0.12908	0.033000	0.12548	-0.366000	0.07563	0.245000	0.21373	0.555000	0.69702	CCG		0.677	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		19	174	0	0	0	1	0	19	174				
ALDH1L1	10840	broad.mit.edu	37	3	125833488	125833488	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:125833488C>T	ENST00000393434.2	-	18	2343	c.1994G>A	c.(1993-1995)aGt>aAt	p.S665N	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.S665N|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.S675N|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.S564N|ALDH1L1_ENST00000393431.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	665	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CTTCACGTTACTTATGGCACA	0.622																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(1993-1995)aGt>aAt		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						141.0	127.0	131.0					3																	125833488		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125833488C>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1994G>A	3.37:g.125833488C>T	ENSP00000377083:p.Ser665Asn					ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.S564N|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.S665N|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.S675N	p.S665N	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	18	2343	-			665			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.1994G>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036864	0.75617	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	4.14	4.14	0.48551	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.146153	0.64402	D	0.000012	T	0.25938	0.0632	M	0.76002	2.32	0.80722	D	1	P;D;P	0.56035	0.6;0.974;0.858	P;D;P	0.63192	0.624;0.912;0.681	T	0.01904	-1.1250	10	0.87932	D	0	.	13.9357	0.64023	0.0:1.0:0.0:0.0	.	564;200;665	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	N	675;665;564;665	ENSP00000273450:S675N;ENSP00000420293:S665N;ENSP00000395881:S564N;ENSP00000377083:S665N	ENSP00000273450:S675N	S	-	2	0	ALDH1L1	127316178	1.000000	0.71417	0.378000	0.26068	0.739000	0.42172	4.699000	0.61796	2.133000	0.65898	0.491000	0.48974	AGT		0.622	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		18	61	0	0	0	1	0	18	61				
ACSS3	79611	broad.mit.edu	37	12	81568586	81568586	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:81568586C>A	ENST00000548058.1	+	8	2028	c.1118C>A	c.(1117-1119)cCa>cAa	p.P373Q	ACSS3_ENST00000548324.1_Missense_Mutation_p.P55Q|ACSS3_ENST00000261206.3_Missense_Mutation_p.P372Q			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	373						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GTGGGAACACCAGATGCTGGC	0.438																																						ENST00000548058.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(1117-1119)cCa>cAa		acyl-CoA synthetase short-chain family member 3							95.0	84.0	87.0					12																	81568586		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81568586C>A		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1118C>A	12.37:g.81568586C>A	ENSP00000449535:p.Pro373Gln					ACSS3_ENST00000261206.3_Missense_Mutation_p.P372Q|ACSS3_ENST00000548324.1_Missense_Mutation_p.P55Q	p.P373Q			Q9H6R3	ACSS3_HUMAN			8	2028	+			373					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.1118C>A	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.565962	0.86439	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.51071	2.78;2.78;0.72	5.53	5.53	0.82687	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.80276	0.4593	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86098	0.1554	10	0.87932	D	0	-17.1493	19.8293	0.96628	0.0:1.0:0.0:0.0	.	55;373	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	Q	373;372;55	ENSP00000449535:P373Q;ENSP00000261206:P372Q;ENSP00000448965:P55Q	ENSP00000261206:P372Q	P	+	2	0	ACSS3	80092717	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.124000	0.77185	2.749000	0.94314	0.655000	0.94253	CCA		0.438	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		9	22	1	0	0.0581538	1	0.0588099	9	22				
SPERT	220082	broad.mit.edu	37	13	46287426	46287426	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:46287426C>A	ENST00000310521.1	+	3	346	c.266C>A	c.(265-267)tCc>tAc	p.S89Y	SPERT_ENST00000378966.3_Missense_Mutation_p.S53Y	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	89						cytoplasmic membrane-bounded vesicle (GO:0016023)		p.S89F(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		AGCCAGCACTCCTATCCACTG	0.682																																						ENST00000378966.3																			1	Substitution - Missense(1)	p.S89F(1)	lung(1)	NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15						c.(157-159)tCc>tAc		spermatid associated							48.0	49.0	49.0					13																	46287426		2203	4300	6503	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287426C>A	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.266C>A	13.37:g.46287426C>A	ENSP00000309189:p.Ser89Tyr					SPERT_ENST00000310521.1_Missense_Mutation_p.S89Y	p.S53Y			Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	574	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	89					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.158C>A	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597924	0.46318	.	.	ENSG00000174015	ENST00000310521;ENST00000533564;ENST00000378966	T;T	0.52754	0.66;0.65	5.1	5.1	0.69264	.	0.000000	0.47093	D	0.000252	T	0.59689	0.2212	L	0.40543	1.245	0.42077	D	0.991236	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.62172	-0.6910	10	0.87932	D	0	.	13.8953	0.63768	0.0:1.0:0.0:0.0	.	53;89	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	Y	89;62;53	ENSP00000309189:S89Y;ENSP00000368249:S53Y	ENSP00000309189:S89Y	S	+	2	0	SPERT	45185427	0.976000	0.34144	1.000000	0.80357	0.057000	0.15508	1.061000	0.30542	2.653000	0.90120	0.650000	0.86243	TCC		0.682	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		36	50	1	0	1.26612e-14	1	1.47371e-14	36	50				
SYNE1	23345	broad.mit.edu	37	6	152614863	152614863	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:152614863G>A	ENST00000367255.5	-	95	18473	c.17872C>T	c.(17872-17874)Ctc>Ttc	p.L5958F	SYNE1_ENST00000448038.1_Missense_Mutation_p.L5887F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L5887F|SYNE1_ENST00000356820.4_Missense_Mutation_p.L482F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L5570F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L5958F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5958					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTTCATAGAGTGTGCGCTGC	0.473										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(17872-17874)Ctc>Ttc		spectrin repeat containing, nuclear envelope 1							114.0	108.0	110.0					6																	152614863		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152614863G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.17872C>T	6.37:g.152614863G>A	ENSP00000356224:p.Leu5958Phe	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.L5958F|SYNE1_ENST00000356820.4_Missense_Mutation_p.L482F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L5887F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L5887F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L5570F	p.L5958F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	95	18473	-		Ovarian(120;0.0955)	5958					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.17872C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416668	0.83449	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000540663;ENST00000537033	T;T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09;0.09	5.37	5.37	0.77165	.	0.000000	0.47852	D	0.000201	T	0.71443	0.3340	M	0.66939	2.045	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.74262	-0.3722	10	0.72032	D	0.01	.	19.1163	0.93343	0.0:0.0:1.0:0.0	.	373;5958;5958;5887	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	F	5958;5887;5958;5887;5570;482;133;180	ENSP00000356224:L5958F;ENSP00000396024:L5887F;ENSP00000265368:L5958F;ENSP00000390975:L5887F;ENSP00000341887:L5570F;ENSP00000349276:L482F;ENSP00000437411:L133F	ENSP00000265368:L5958F	L	-	1	0	SYNE1	152656556	1.000000	0.71417	0.931000	0.37212	0.985000	0.73830	5.059000	0.64306	2.488000	0.83962	0.655000	0.94253	CTC		0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		37	52	0	0	0	1	0	37	52				
CHST5	23563	broad.mit.edu	37	16	75563731	75563731	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:75563731C>G	ENST00000336257.3	-	3	1946	c.552G>C	c.(550-552)cgG>cgC	p.R184R	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.R190R	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	184					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGCAGGCCTCCCGGGCCAGGC	0.667																																						ENST00000336257.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(550-552)cgG>cgC		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							84.0	93.0	90.0					16																	75563731		2197	4299	6496	SO:0001819	synonymous_variant	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563731C>G	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.552G>C	16.37:g.75563731C>G						CHST5_ENST00000541075.1_Silent_p.R190R|RP11-77K12.7_ENST00000460606.1_3'UTR	p.R184R	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN			3	1946	-			184					B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	c.552G>C	CCDS10919.1																																																																																				0.667	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		5	226	0	0	0	1	0	5	226				
ZPBP	11055	broad.mit.edu	37	7	50121479	50121479	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:50121479C>G	ENST00000046087.2	-	3	294	c.225G>C	c.(223-225)atG>atC	p.M75I	ZPBP_ENST00000419417.1_Missense_Mutation_p.M75I	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	75					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TTTGATGGAGCATGACATACG	0.353																																						ENST00000046087.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(223-225)atG>atC		zona pellucida binding protein							127.0	117.0	120.0					7																	50121479		2202	4300	6502	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50121479C>G	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.225G>C	7.37:g.50121479C>G	ENSP00000046087:p.Met75Ile					ZPBP_ENST00000419417.1_Missense_Mutation_p.M75I	p.M75I	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN			3	294	-	Glioma(55;0.08)|all_neural(89;0.245)		75					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.225G>C	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319399	0.41096	.	.	ENSG00000042813	ENST00000046087;ENST00000419417;ENST00000450231	T;T;T	0.51325	0.71;0.71;1.5	5.1	5.1	0.69264	Immunoglobulin-like (1);	0.205129	0.33691	N	0.004644	T	0.41811	0.1175	M	0.64997	1.995	0.28205	N	0.927204	B;B	0.27068	0.167;0.167	B;B	0.21360	0.034;0.034	T	0.33675	-0.9859	9	.	.	.	-20.6921	9.67	0.40006	0.0:0.9049:0.0:0.0951	.	75;75	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	I	75;75;36	ENSP00000046087:M75I;ENSP00000402071:M75I;ENSP00000390054:M36I	.	M	-	3	0	ZPBP	50092025	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	2.651000	0.46674	2.375000	0.81037	0.460000	0.39030	ATG		0.353	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		9	33	0	0	0	1	0	9	33				
PHKA1	5255	broad.mit.edu	37	X	71800902	71800902	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:71800902C>T	ENST00000373542.4	-	32	3781	c.3622G>A	c.(3622-3624)Gcc>Acc	p.A1208T	PHKA1_ENST00000373539.3_Missense_Mutation_p.A1225T|PHKA1_ENST00000339490.3_Missense_Mutation_p.A1195T|PHKA1_ENST00000373545.3_Missense_Mutation_p.A1166T|PHKA1_ENST00000541944.1_Missense_Mutation_p.A1136T	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1208					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ACGTAGGTGGCGGCTGCCTTG	0.572																																						ENST00000373545.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3496-3498)Gcc>Acc		phosphorylase kinase, alpha 1 (muscle)							81.0	61.0	68.0					X																	71800902		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71800902C>T		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3622G>A	X.37:g.71800902C>T	ENSP00000362643:p.Ala1208Thr					PHKA1_ENST00000541944.1_Missense_Mutation_p.A1136T|PHKA1_ENST00000373542.4_Missense_Mutation_p.A1208T|PHKA1_ENST00000373539.3_Missense_Mutation_p.A1225T|PHKA1_ENST00000339490.3_Missense_Mutation_p.A1195T	p.A1166T			P46020	KPB1_HUMAN			32	3934	-	Renal(35;0.156)		1208					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.3496G>A	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579302	0.65878	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42;-3.42	4.96	4.07	0.47477	.	0.053497	0.85682	D	0.000000	D	0.95878	0.8658	M	0.73962	2.25	0.48341	D	0.999636	D;P;D;D	0.76494	0.999;0.93;0.962;0.998	P;B;P;P	0.61132	0.884;0.305;0.554;0.852	D	0.94377	0.7601	10	0.38643	T	0.18	-7.8055	11.4157	0.49951	0.1821:0.8179:0.0:0.0	.	1136;1166;1195;1208	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	T	1166;1208;1136;1195;1225	ENSP00000362646:A1166T;ENSP00000362643:A1208T;ENSP00000441251:A1136T;ENSP00000342469:A1195T;ENSP00000362640:A1225T	ENSP00000342469:A1195T	A	-	1	0	PHKA1	71717627	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	5.688000	0.68227	0.845000	0.35118	0.538000	0.68166	GCC		0.572	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			9	23	0	0	0	1	0	9	23				
GLYAT	10249	broad.mit.edu	37	11	58477257	58477257	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:58477257C>G	ENST00000344743.3	-	6	1014	c.873G>C	c.(871-873)tgG>tgC	p.W291C	GLYAT_ENST00000529732.1_Missense_Mutation_p.W291C	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	291					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GTACACAGTTCCACTGGTTCC	0.433																																						ENST00000344743.3																			0				NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(871-873)tgG>tgC		glycine-N-acyltransferase	Glycine(DB00145)						118.0	117.0	118.0					11																	58477257		2201	4295	6496	SO:0001583	missense	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58477257C>G	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.873G>C	11.37:g.58477257C>G	ENSP00000340200:p.Trp291Cys					GLYAT_ENST00000529732.1_Missense_Mutation_p.W291C	p.W291C	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN			6	1014	-		Breast(21;0.0044)|all_epithelial(135;0.0157)	291					O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	37	c.873G>C	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701263	0.68501	.	.	ENSG00000149124	ENST00000344743;ENST00000529732	T;T	0.17370	2.28;2.28	6.06	6.06	0.98353	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, C-terminal (1);	0.134613	0.53938	D	0.000052	T	0.51890	0.1701	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59679	-0.7409	10	0.87932	D	0	-21.7206	16.1399	0.81515	0.0:1.0:0.0:0.0	.	291	Q6IB77	GLYAT_HUMAN	C	291	ENSP00000340200:W291C;ENSP00000431688:W291C	ENSP00000340200:W291C	W	-	3	0	GLYAT	58233833	0.988000	0.35896	0.974000	0.42286	0.879000	0.50718	3.549000	0.53681	2.880000	0.98712	0.650000	0.86243	TGG		0.433	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1			7	100	0	0	0	1	0	7	100				
PYGM	5837	broad.mit.edu	37	11	64525373	64525373	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:64525373C>G	ENST00000164139.3	-	5	936	c.538G>C	c.(538-540)Gcc>Ccc	p.A180P	PYGM_ENST00000377432.3_Missense_Mutation_p.A92P	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	180					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGTCATCGGCCTCCTCCATC	0.657																																						ENST00000164139.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(538-540)Gcc>Ccc		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						56.0	49.0	51.0					11																	64525373		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64525373C>G		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.538G>C	11.37:g.64525373C>G	ENSP00000164139:p.Ala180Pro					PYGM_ENST00000377432.3_Missense_Mutation_p.A92P	p.A180P	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			5	936	-			180					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.538G>C	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	7.952	0.745158	0.15710	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.91631	-2.88;-2.88	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000014	T	0.76485	0.3994	N	0.00754	-1.215	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.19946	0.027;0.027	T	0.75252	-0.3383	10	0.02654	T	1	-12.2439	17.3277	0.87253	0.0:1.0:0.0:0.0	.	92;180	A6NDY6;P11217	.;PYGM_HUMAN	P	92;180;161	ENSP00000366650:A92P;ENSP00000164139:A180P	ENSP00000164139:A180P	A	-	1	0	PYGM	64281949	1.000000	0.71417	0.997000	0.53966	0.464000	0.32679	7.818000	0.86416	2.700000	0.92200	0.563000	0.77884	GCC		0.657	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		3	41	0	0	0	1	0	3	41				
ELTD1	64123	broad.mit.edu	37	1	79357359	79357359	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:79357359G>A	ENST00000370742.3	-	14	1923	c.1860C>T	c.(1858-1860)gcC>gcT	p.A620A		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	620			A -> G (in dbSNP:rs2275902). {ECO:0000269|Ref.1}.		G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GAAGAGCGAGGGCTCCTCTTG	0.468																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(1858-1860)gcC>gcT		EGF, latrophilin and seven transmembrane domain containing 1							60.0	61.0	60.0					1																	79357359		1973	4143	6116	SO:0001819	synonymous_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79357359G>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1860C>T	1.37:g.79357359G>A							p.A620A	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	14	1923	-			620		A -> G (in dbSNP:rs2275902).			B1AR71|Q5KU34	Silent	SNP	ENST00000370742.3	37	c.1860C>T	CCDS41352.1																																																																																				0.468	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		16	16	0	0	0	1	0	16	16				
SON	6651	broad.mit.edu	37	21	34927039	34927039	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:34927039C>G	ENST00000356577.4	+	3	5977	c.5502C>G	c.(5500-5502)caC>caG	p.H1834Q	SON_ENST00000381679.4_Missense_Mutation_p.H1834Q|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.H1834Q|SON_ENST00000290239.6_Missense_Mutation_p.H1834Q	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1834					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTTCTGAACACAAATCACGCA	0.418																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(5500-5502)caC>caG		SON DNA binding protein							85.0	86.0	86.0					21																	34927039		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34927039C>G	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.5502C>G	21.37:g.34927039C>G	ENSP00000348984:p.His1834Gln					SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.H1834Q|SON_ENST00000300278.4_Missense_Mutation_p.H1834Q|SON_ENST00000290239.6_Missense_Mutation_p.H1834Q	p.H1834Q	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	5977	+			1834					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.5502C>G	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.75|11.75	1.732002|1.732002	0.30684|0.30684	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679|ENST00000436227	T;T;T;T|.	0.17370|.	2.28;2.28;2.28;2.28|.	5.65|5.65	2.73|2.73	0.32206|0.32206	.|.	0.000000|.	0.53938|.	D|.	0.000058|.	T|T	0.22399|0.22399	0.0540|0.0540	N|N	0.08118|0.08118	0|0	0.32286|0.32286	N|N	0.566948|0.566948	D;D;D;D;D|.	0.76494|.	0.998;0.967;0.981;0.999;0.999|.	D;P;P;D;D|.	0.80764|.	0.934;0.71;0.849;0.98;0.994|.	T|T	0.30592|0.30592	-0.9973|-0.9973	10|5	0.56958|.	D|.	0.05|.	.|.	8.2667|8.2667	0.31819|0.31819	0.0:0.7411:0.0:0.2589|0.0:0.7411:0.0:0.2589	.|.	1834;1834;1515;1834;1834|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	Q|R	1834|829	ENSP00000348984:H1834Q;ENSP00000290239:H1834Q;ENSP00000300278:H1834Q;ENSP00000371095:H1834Q|.	ENSP00000290239:H1834Q|.	H|T	+|+	3|2	2|0	SON|SON	33848909|33848909	0.049000|0.049000	0.20398|0.20398	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.117000|0.117000	0.15583|0.15583	0.268000|0.268000	0.21939|0.21939	0.655000|0.655000	0.94253|0.94253	CAC|ACA		0.418	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		7	68	0	0	0	1	0	7	68				
CPA2	1358	broad.mit.edu	37	7	129916556	129916556	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:129916556G>C	ENST00000222481.4	+	7	729	c.674G>C	c.(673-675)gGa>gCa	p.G225A		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	225					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					AACCCTGATGGATACGTGTTC	0.423																																						ENST00000222481.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(673-675)gGa>gCa		carboxypeptidase A2 (pancreatic)							209.0	187.0	194.0					7																	129916556		2203	4300	6503	SO:0001583	missense	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129916556G>C	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.674G>C	7.37:g.129916556G>C	ENSP00000222481:p.Gly225Ala						p.G225A	NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN			7	729	+	Melanoma(18;0.0435)		225					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	c.674G>C	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891377	0.91889	.	.	ENSG00000158516	ENST00000222481	T	0.58060	0.36	5.6	5.6	0.85130	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	D	0.85561	0.5725	H	0.99425	4.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91807	0.5456	10	0.87932	D	0	.	18.6012	0.91248	0.0:0.0:1.0:0.0	.	223;225	B4DDX9;P48052	.;CBPA2_HUMAN	A	225	ENSP00000222481:G225A	ENSP00000222481:G225A	G	+	2	0	CPA2	129703792	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.420000	0.97426	2.652000	0.90054	0.561000	0.74099	GGA		0.423	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		8	77	0	0	0	1	0	8	77				
LRRC49	54839	broad.mit.edu	37	15	71341938	71341938	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:71341938C>G	ENST00000260382.5	+	16	2308	c.2048C>G	c.(2047-2049)aCa>aGa	p.T683R	LRRC49_ENST00000560691.1_Missense_Mutation_p.T389R|LRRC49_ENST00000560158.2_Missense_Mutation_p.T371R|LRRC49_ENST00000544974.2_Missense_Mutation_p.T673R|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.T639R|LRRC49_ENST00000560369.1_Missense_Mutation_p.T688R	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	683						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CAGCAGATAACAGACCAAAAA	0.343																																						ENST00000260382.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(2047-2049)aCa>aGa		leucine rich repeat containing 49							66.0	70.0	69.0					15																	71341938		2199	4297	6496	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71341938C>G		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.2048C>G	15.37:g.71341938C>G	ENSP00000260382:p.Thr683Arg					LRRC49_ENST00000560369.1_Missense_Mutation_p.T688R|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.T639R|LRRC49_ENST00000560691.1_Missense_Mutation_p.T389R|LRRC49_ENST00000560158.2_Missense_Mutation_p.T371R|LRRC49_ENST00000544974.2_Missense_Mutation_p.T673R	p.T683R	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			16	2308	+			683					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.2048C>G	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	c	5.699	0.313484	0.10789	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.34472	1.36;1.36;1.37	5.4	3.53	0.40419	.	0.451235	0.23799	N	0.044452	T	0.24084	0.0583	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B	0.26258	0.011;0.006;0.016;0.011;0.145	B;B;B;B;B	0.31614	0.008;0.011;0.011;0.008;0.133	T	0.21280	-1.0250	10	0.15499	T	0.54	-1.5011	5.8015	0.18416	0.0:0.6825:0.1579:0.1596	.	688;655;639;683;673	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	R	673;683;639;655	ENSP00000439600:T673R;ENSP00000260382:T683R;ENSP00000414065:T639R	ENSP00000260382:T683R	T	+	2	0	LRRC49	69128992	0.065000	0.20965	0.067000	0.19924	0.837000	0.47467	1.343000	0.33930	0.851000	0.35264	0.655000	0.94253	ACA		0.343	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		13	76	0	0	0	1	0	13	76				
SNRNP200	23020	broad.mit.edu	37	2	96951035	96951035	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:96951035C>T	ENST00000323853.5	-	30	4124	c.4047G>A	c.(4045-4047)ggG>ggA	p.G1349G	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1349	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCGTGGGGGCCCCCACAAACA	0.527																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(4045-4047)ggG>ggA		small nuclear ribonucleoprotein 200kDa (U5)							76.0	77.0	77.0					2																	96951035		2203	4300	6503	SO:0001819	synonymous_variant	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96951035C>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.4047G>A	2.37:g.96951035C>T						SNRNP200_ENST00000349783.5_Intron	p.G1349G	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			30	4124	-			1349			Helicase ATP-binding 2.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	c.4047G>A	CCDS2020.1																																																																																				0.527	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		32	68	0	0	0	1	0	32	68				
PTPRD	5789	broad.mit.edu	37	9	8504347	8504347	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:8504347C>T	ENST00000381196.4	-	20	2279	c.1736G>A	c.(1735-1737)aGc>aAc	p.S579N	PTPRD_ENST00000356435.5_Missense_Mutation_p.S579N|PTPRD_ENST00000397611.3_Missense_Mutation_p.S576N|PTPRD_ENST00000537002.1_Missense_Mutation_p.S576N|PTPRD_ENST00000358503.5_Missense_Mutation_p.S566N|PTPRD_ENST00000360074.4_Missense_Mutation_p.S566N|PTPRD_ENST00000355233.5_Missense_Mutation_p.S579N|PTPRD_ENST00000486161.1_Missense_Mutation_p.S579N|PTPRD_ENST00000397606.3_Missense_Mutation_p.S569N|PTPRD_ENST00000397617.3_Missense_Mutation_p.S569N|PTPRD_ENST00000540109.1_Missense_Mutation_p.S579N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	579	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATAGTATAAGCTGTTTGGTTT	0.463										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(1735-1737)aGc>aAc		protein tyrosine phosphatase, receptor type, D							293.0	249.0	264.0					9																	8504347		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8504347C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1736G>A	9.37:g.8504347C>T	ENSP00000370593:p.Ser579Asn	TSP Lung(15;0.13)				PTPRD_ENST00000397611.3_Missense_Mutation_p.S576N|PTPRD_ENST00000356435.5_Missense_Mutation_p.S579N|PTPRD_ENST00000537002.1_Missense_Mutation_p.S576N|PTPRD_ENST00000355233.5_Missense_Mutation_p.S579N|PTPRD_ENST00000486161.1_Missense_Mutation_p.S579N|PTPRD_ENST00000540109.1_Missense_Mutation_p.S579N|PTPRD_ENST00000397617.3_Missense_Mutation_p.S569N|PTPRD_ENST00000360074.4_Missense_Mutation_p.S566N|PTPRD_ENST00000358503.5_Missense_Mutation_p.S566N|PTPRD_ENST00000397606.3_Missense_Mutation_p.S569N	p.S579N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	20	2279	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	579			Fibronectin type-III 3.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1736G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570168	0.65765	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	5.53	4.61	0.57282	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.044397	0.85682	D	0.000000	T	0.57315	0.2045	L	0.53729	1.69	0.43593	D	0.995948	P;P;P;P;B;P;P;P;P	0.46952	0.578;0.578;0.741;0.741;0.044;0.523;0.862;0.776;0.887	B;B;P;P;B;B;P;P;P	0.49140	0.388;0.388;0.489;0.491;0.185;0.268;0.484;0.601;0.557	T	0.56245	-0.8011	9	.	.	.	.	16.4574	0.84022	0.0:0.8693:0.1307:0.0	.	569;573;579;579;576;576;566;579;579	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	N	579;579;566;566;579;569;576;576;579;579;579;569	ENSP00000370593:S579N;ENSP00000348812:S579N;ENSP00000353187:S566N;ENSP00000351293:S566N;ENSP00000347373:S579N;ENSP00000380741:S569N;ENSP00000380735:S576N;ENSP00000440515:S576N;ENSP00000438164:S579N;ENSP00000417093:S579N;ENSP00000380731:S569N	.	S	-	2	0	PTPRD	8494347	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.099000	0.57755	2.602000	0.87976	0.467000	0.42956	AGC		0.463	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			17	88	0	0	0	1	0	17	88				
BRF2	55290	broad.mit.edu	37	8	37704676	37704676	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:37704676C>G	ENST00000220659.6	-	3	352	c.232G>C	c.(232-234)Gac>Cac	p.D78H	BRF2_ENST00000520601.1_Missense_Mutation_p.D78H|BRF2_ENST00000521170.1_3'UTR	NM_018310.3	NP_060780.2	P47974	TISD_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CGACAAAGGTCTCTCACTCGC	0.527																																						ENST00000220659.6																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(232-234)Gac>Cac		BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit							88.0	85.0	86.0					8																	37704676		2203	4300	6503	SO:0001583	missense	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37704676C>G	AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221			17298	protein-coding gene	gene with protein product		607013	"""BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like"""			11483580, 11564744	Standard	NM_018310		Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.232G>C	8.37:g.37704676C>G	ENSP00000220659:p.Asp78His					BRF2_ENST00000520601.1_Missense_Mutation_p.D78H|BRF2_ENST00000521170.1_3'UTR	p.D78H	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		3	352	-		Lung NSC(58;0.118)|all_lung(54;0.195)	78					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000220659.6	37	c.232G>C	CCDS6098.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278638	0.80692	.	.	ENSG00000104221	ENST00000220659;ENST00000545765;ENST00000520601	.	.	.	5.69	5.69	0.88448	Cyclin-like (3);	0.112498	0.64402	D	0.000010	T	0.68924	0.3054	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	T	0.66854	-0.5818	9	0.40728	T	0.16	.	13.0646	0.59025	0.0:0.9268:0.0:0.0732	.	78	Q9HAW0	BRF2_HUMAN	H	78;55;78	.	ENSP00000220659:D78H	D	-	1	0	BRF2	37823834	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.268000	0.65536	2.696000	0.92011	0.557000	0.71058	GAC		0.527	BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376811.2	NM_018310		6	128	0	0	0	1	0	6	128				
COL24A1	255631	broad.mit.edu	37	1	86362059	86362059	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:86362059G>C	ENST00000370571.2	-	29	3178	c.2812C>G	c.(2812-2814)Caa>Gaa	p.Q938E	COL24A1_ENST00000436319.1_Missense_Mutation_p.Q938E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	938	Collagen-like 7.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGTATACCTTGTTCCCCTAAG	0.313																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(2812-2814)Caa>Gaa		collagen, type XXIV, alpha 1							118.0	111.0	113.0					1																	86362059		1833	4085	5918	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86362059G>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2812C>G	1.37:g.86362059G>C	ENSP00000359603:p.Gln938Glu					COL24A1_ENST00000436319.1_Missense_Mutation_p.Q938E	p.Q938E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	29	3178	-			938			Collagen-like 7.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.2812C>G	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701195	0.30142	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.96041	-3.17;-3.89	5.46	5.46	0.80206	.	0.000000	0.37261	N	0.002165	D	0.86686	0.5992	L	0.43646	1.37	0.30572	N	0.763371	B;B	0.23591	0.088;0.082	B;B	0.33960	0.084;0.173	T	0.72320	-0.4329	10	0.02654	T	1	.	11.5531	0.50731	0.0834:0.0:0.9166:0.0	.	938;938	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	E	938	ENSP00000359603:Q938E;ENSP00000392531:Q938E	ENSP00000359603:Q938E	Q	-	1	0	COL24A1	86134647	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.530000	0.67141	2.552000	0.86080	0.655000	0.94253	CAA		0.313	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		24	41	0	0	0	1	0	24	41				
KRT74	121391	broad.mit.edu	37	12	52967279	52967279	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:52967279C>T	ENST00000305620.2	-	1	330	c.283G>A	c.(283-285)Ggc>Agc	p.G95S	KRT74_ENST00000549343.1_Missense_Mutation_p.G95S	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	95	Gly-rich.|Head.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCCACACTGCCAAACATACTG	0.637																																						ENST00000549343.1																			0				kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(283-285)Ggc>Agc		keratin 74							58.0	65.0	62.0					12																	52967279		2203	4300	6503	SO:0001583	missense	121391					keratin filament	structural molecule activity	g.chr12:52967279C>T	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.283G>A	12.37:g.52967279C>T	ENSP00000307240:p.Gly95Ser					KRT74_ENST00000305620.2_Missense_Mutation_p.G95S	p.G95S			Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	1	321	-			95			Gly-rich.|Head.		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	c.283G>A	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861557	0.71949	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	T;T	0.78126	-1.15;-1.15	4.39	4.39	0.52855	.	0.000000	0.36066	N	0.002806	D	0.86928	0.6051	M	0.76433	2.335	0.46317	D	0.99898	D	0.76494	0.999	D	0.70227	0.968	D	0.86026	0.1510	10	0.33940	T	0.23	.	17.8597	0.88777	0.0:1.0:0.0:0.0	.	95	Q7RTS7	K2C74_HUMAN	S	95	ENSP00000447447:G95S;ENSP00000307240:G95S	ENSP00000307240:G95S	G	-	1	0	KRT74	51253546	0.001000	0.12720	1.000000	0.80357	0.757000	0.42996	0.850000	0.27737	2.378000	0.81104	0.555000	0.69702	GGC		0.637	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		33	53	0	0	0	1	0	33	53				
ARHGAP36	158763	broad.mit.edu	37	X	130218248	130218248	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:130218248C>A	ENST00000276211.5	+	5	960	c.615C>A	c.(613-615)acC>acA	p.T205T	ARHGAP36_ENST00000370921.1_Silent_p.T69T|ARHGAP36_ENST00000370922.1_Silent_p.T193T	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	205					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGCTGCAGACCCTGCAGCTTT	0.473																																						ENST00000276211.5																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(613-615)acC>acA		Rho GTPase activating protein 36							41.0	39.0	40.0					X																	130218248		2203	4300	6503	SO:0001819	synonymous_variant	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130218248C>A		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.615C>A	X.37:g.130218248C>A						ARHGAP36_ENST00000370922.1_Silent_p.T193T|ARHGAP36_ENST00000370921.1_Silent_p.T69T	p.T205T	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			5	960	+			205					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	ENST00000276211.5	37	c.615C>A	CCDS14628.1																																																																																				0.473	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		8	41	1	0	0.000274275	1	0.000285836	8	41				
KEAP1	9817	broad.mit.edu	37	19	10602878	10602878	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:10602878G>A	ENST00000171111.5	-	3	1247	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	KEAP1_ENST00000393623.2_Missense_Mutation_p.R234W|KEAP1_ENST00000588024.1_5'UTR|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	234	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	AGGTCGTCCCGGCTGATGAGG	0.612																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(700-702)Cgg>Tgg		kelch-like ECH-associated protein 1							66.0	55.0	59.0					19																	10602878		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602878G>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.700C>T	19.37:g.10602878G>A	ENSP00000171111:p.Arg234Trp					KEAP1_ENST00000393623.2_Missense_Mutation_p.R234W|KEAP1_ENST00000588024.1_5'UTR	p.R234W	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1247	-			234			BACK.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.700C>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396071	0.62177	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.70399	-0.48;-0.48	5.84	1.08	0.20341	BTB/Kelch-associated (2);	0.171215	0.49916	D	0.000134	T	0.78767	0.4335	L	0.58810	1.83	0.48975	D	0.999731	D	0.76494	0.999	D	0.65987	0.94	T	0.79215	-0.1895	10	0.72032	D	0.01	.	14.1659	0.65475	0.0:0.0:0.5261:0.4739	.	234	Q14145	KEAP1_HUMAN	W	234	ENSP00000171111:R234W;ENSP00000377245:R234W	ENSP00000171111:R234W	R	-	1	2	KEAP1	10463878	1.000000	0.71417	0.627000	0.29227	0.674000	0.39518	1.564000	0.36375	0.054000	0.16065	-0.277000	0.10078	CGG		0.612	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		11	48	0	0	0	1	0	11	48				
COL4A3	1285	broad.mit.edu	37	2	228163400	228163400	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:228163400G>A	ENST00000396578.3	+	43	3916	c.3754G>A	c.(3754-3756)Gcg>Acg	p.A1252T	COL4A3_ENST00000468753.1_3'UTR|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1252	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAATTCAGGTGCGCCTGGTCC	0.483																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3754-3756)Gcg>Acg		collagen, type IV, alpha 3 (Goodpasture antigen)							61.0	64.0	63.0					2																	228163400		1878	4115	5993	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228163400G>A		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.3754G>A	2.37:g.228163400G>A	ENSP00000379823:p.Ala1252Thr					AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|COL4A3_ENST00000468753.1_3'UTR	p.A1252T	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	43	3916	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1252			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.3754G>A	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	7.523	0.657051	0.14580	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93426	-3.22	5.28	3.46	0.39613	.	0.612948	0.15453	N	0.261535	D	0.83211	0.5205	N	0.12182	0.205	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.67814	-0.5573	10	0.13853	T	0.58	.	7.0467	0.25050	0.1573:0.1434:0.6993:0.0	.	1252;1252;1252;1252	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	T	1252	ENSP00000379823:A1252T	ENSP00000323334:A1252T	A	+	1	0	COL4A3	227871644	0.000000	0.05858	0.933000	0.37362	0.422000	0.31414	-0.087000	0.11215	0.722000	0.32252	0.467000	0.42956	GCG		0.483	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		18	46	0	0	0	1	0	18	46				
C5orf42	65250	broad.mit.edu	37	5	37169351	37169351	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:37169351C>G	ENST00000508244.1	-	33	6868	c.6775G>C	c.(6775-6777)Gag>Cag	p.E2259Q	C5orf42_ENST00000274258.7_Missense_Mutation_p.E1139Q|C5orf42_ENST00000425232.2_Missense_Mutation_p.E2259Q			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2259						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCCCAAGCCTCTCTTGGTTGT	0.448																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(3415-3417)Gag>Cag		chromosome 5 open reading frame 42							87.0	88.0	88.0					5																	37169351		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37169351C>G		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6775G>C	5.37:g.37169351C>G	ENSP00000421690:p.Glu2259Gln					C5orf42_ENST00000425232.2_Missense_Mutation_p.E2259Q|C5orf42_ENST00000508244.1_Missense_Mutation_p.E2259Q	p.E1139Q			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		34	7002	-	all_lung(31;0.000616)		2259					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.3415G>C	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773378	0.69992	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.26660	1.76;1.76;1.72;1.74	5.53	4.66	0.58398	.	0.000000	0.64402	D	0.000002	T	0.25606	0.0623	L	0.55990	1.75	0.28746	N	0.901671	B;P	0.40431	0.383;0.717	B;B	0.41271	0.182;0.352	T	0.18999	-1.0319	10	0.51188	T	0.08	.	8.7318	0.34503	0.0:0.7676:0.1527:0.0797	.	2259;1139	E9PH94;Q9H799	.;CE042_HUMAN	Q	2259;2259;1139;1307;1139	ENSP00000421690:E2259Q;ENSP00000389014:E2259Q;ENSP00000274258:E1139Q;ENSP00000424223:E1307Q	ENSP00000274258:E1139Q	E	-	1	0	C5orf42	37205108	1.000000	0.71417	0.995000	0.50966	0.439000	0.31926	2.496000	0.45346	2.587000	0.87381	0.655000	0.94253	GAG		0.448	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		4	178	0	0	0	1	0	4	178				
PLA2G2C	391013	broad.mit.edu	37	1	20490636	20490636	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:20490636C>A	ENST00000429261.2	-	4	358	c.298G>T	c.(298-300)Ggt>Tgt	p.G100C	PLA2G2C_ENST00000495760.2_Intron|PLA2G2C_ENST00000247992.5_Missense_Mutation_p.G101C			Q5R387	PA2GC_HUMAN	phospholipase A2, group IIC	100					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCACCAGGACCAAGGGTGCAT	0.582																																						ENST00000429261.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7						c.(298-300)Ggt>Tgt		phospholipase A2, group IIC							38.0	38.0	38.0					1																	20490636		1965	4153	6118	SO:0001583	missense	391013							g.chr1:20490636C>A			1p36.12	2010-06-04	2003-10-13		ENSG00000187980	ENSG00000187980			9032	protein-coding gene	gene with protein product			"""phospholipase A2, group IIC (possible pseudogene)"""			8838795	Standard	NM_001105572		Approved		uc009vpq.1	Q5R387	OTTHUMG00000002705	ENST00000429261.2:c.298G>T	1.37:g.20490636C>A	ENSP00000389335:p.Gly100Cys					PLA2G2C_ENST00000247992.5_Missense_Mutation_p.G101C|PLA2G2C_ENST00000495760.2_Intron	p.G100C						UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	4	358	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)						Q7M4M6	Missense_Mutation	SNP	ENST00000429261.2	37	c.298G>T		.	.	.	.	.	.	.	.	.	.	C	14.51	2.557590	0.45590	.	.	ENSG00000187980	ENST00000429261;ENST00000247992	T;T	0.25912	1.78;1.77	4.07	3.15	0.36227	Phospholipase A2 (3);	0.444963	0.19071	N	0.123501	T	0.41096	0.1144	M	0.64997	1.995	0.09310	N	1	D	0.67145	0.996	D	0.64237	0.923	T	0.12372	-1.0550	10	0.87932	D	0	.	7.6694	0.28449	0.0:0.8831:0.0:0.1169	.	100	Q5R387	PA2GC_HUMAN	C	100;101	ENSP00000389335:G100C;ENSP00000247992:G101C	ENSP00000247992:G101C	G	-	1	0	PLA2G2C	20363223	0.002000	0.14202	0.014000	0.15608	0.070000	0.16714	-0.063000	0.11655	1.061000	0.40601	0.514000	0.50259	GGT		0.582	PLA2G2C-001	PUTATIVE	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000007689.3	NM_001105572		6	18	1	0	0.00198382	1	0.00205252	6	18				
SRCAP	10847	broad.mit.edu	37	16	30749037	30749037	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:30749037C>G	ENST00000262518.4	+	34	8061	c.7676C>G	c.(7675-7677)gCa>gGa	p.A2559G	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.A2401G|SRCAP_ENST00000395059.2_Missense_Mutation_p.A2497G	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2559	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGGCATTGGCATCTCCAGAG	0.562																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(7675-7677)gCa>gGa		Snf2-related CREBBP activator protein							85.0	84.0	84.0					16																	30749037		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30749037C>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7676C>G	16.37:g.30749037C>G	ENSP00000262518:p.Ala2559Gly					SRCAP_ENST00000395059.2_Missense_Mutation_p.A2497G|SRCAP_ENST00000344771.4_Missense_Mutation_p.A2401G	p.A2559G	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	8061	+			2559			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.7676C>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	9.162	1.018867	0.19355	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91843	-2.88;-2.92;-2.91	4.8	4.8	0.61643	.	0.151633	0.30859	N	0.008727	D	0.83931	0.5361	N	0.08118	0	0.27392	N	0.955098	P;P	0.39847	0.691;0.565	B;B	0.40199	0.322;0.172	T	0.79983	-0.1573	10	0.51188	T	0.08	-9.2129	13.2214	0.59890	0.0:1.0:0.0:0.0	.	2497;2559	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	G	2559;2497;2401	ENSP00000262518:A2559G;ENSP00000378499:A2497G;ENSP00000343042:A2401G	ENSP00000262518:A2559G	A	+	2	0	SRCAP	30656538	1.000000	0.71417	0.996000	0.52242	0.522000	0.34438	1.210000	0.32370	2.497000	0.84241	0.467000	0.42956	GCA		0.562	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		4	83	0	0	0	1	0	4	83				
SLC35G3	146861	broad.mit.edu	37	17	33521020	33521020	+	Missense_Mutation	SNP	G	G	A	rs143192040		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:33521020G>A	ENST00000297307.5	-	1	392	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	103	EamA 1.					integral component of membrane (GO:0016021)											AAGAAGGCCCGGCTTCGGATG	0.597																																						ENST00000297307.5																			0											c.(307-309)Cgg>Tgg		solute carrier family 35, member G3		G	TRP/ARG	0,4406		0,0,2203	129.0	135.0	133.0		307		0.1	17	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC35G3	NM_152462.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	103/339	33521020	1,13005	2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33521020G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.307C>T	17.37:g.33521020G>A	ENSP00000297307:p.Arg103Trp						p.R103W	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	392	-			103			DUF6 1.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.307C>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	G	9.531	1.110815	0.20714	0.0	1.16E-4	ENSG00000164729	ENST00000297307	T	0.50813	0.73	.	.	.	.	0.244821	0.21560	N	0.072582	T	0.30386	0.0763	L	0.32530	0.975	0.49213	D	0.999767	B	0.13594	0.008	B	0.04013	0.001	T	0.04855	-1.0922	9	0.36615	T	0.2	-0.4591	5.844	0.18652	9.0E-4:0.0:0.9991:0.0	.	103	Q8N808	S35G3_HUMAN	W	103	ENSP00000297307:R103W	ENSP00000297307:R103W	R	-	1	2	SLC35G3	30545133	0.700000	0.27796	0.122000	0.21767	0.123000	0.20343	1.797000	0.38804	0.064000	0.16427	0.064000	0.15345	CGG		0.597	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		96	144	0	0	0	1	0	96	144				
ARMCX2	9823	broad.mit.edu	37	X	100912204	100912204	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:100912204C>T	ENST00000328766.5	-	5	824	c.371G>A	c.(370-372)gGg>gAg	p.G124E	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.G124E|ARMCX2_ENST00000356824.4_Missense_Mutation_p.G124E	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	124	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GGCCTTAGGCCCAACCCCGGC	0.637																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(370-372)gGg>gAg		armadillo repeat containing, X-linked 2							45.0	46.0	45.0					X																	100912204		2203	4300	6503	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100912204C>T	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.371G>A	X.37:g.100912204C>T	ENSP00000331662:p.Gly124Glu					ARMCX2_ENST00000356824.4_Missense_Mutation_p.G124E|ARMCX2_ENST00000330154.2_Missense_Mutation_p.G124E	p.G124E	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	824	-			124			Ala-rich.		O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.371G>A	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843554	0.51057	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824;ENST00000413506;ENST00000433318	T;T;T;T;T	0.45668	1.21;1.21;1.21;0.89;0.89	3.96	0.598	0.17512	.	0.678948	0.12158	N	0.494265	T	0.21307	0.0513	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18587	-1.0332	10	0.26408	T	0.33	0.0881	3.4602	0.07529	0.1909:0.508:0.0:0.3011	.	124	Q7L311	ARMX2_HUMAN	E	124	ENSP00000331662:G124E;ENSP00000328631:G124E;ENSP00000349281:G124E;ENSP00000412481:G124E;ENSP00000410151:G124E	ENSP00000331662:G124E	G	-	2	0	ARMCX2	100798860	0.000000	0.05858	0.004000	0.12327	0.153000	0.21895	-0.751000	0.04803	-0.014000	0.14175	0.544000	0.68410	GGG		0.637	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		30	57	0	0	0	1	0	30	57				
SLC44A2	57153	broad.mit.edu	37	19	10742738	10742738	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:10742738G>C	ENST00000335757.5	+	10	1105	c.729G>C	c.(727-729)atG>atC	p.M243I	SLC44A2_ENST00000586078.1_Missense_Mutation_p.M243I|SLC44A2_ENST00000407327.4_Missense_Mutation_p.M241I			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	243					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TCATTGCCATGGCGATGAGCC	0.572																																						ENST00000586078.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(727-729)atG>atC		solute carrier family 44 (choline transporter), member 2	Choline(DB00122)						278.0	246.0	257.0					19																	10742738		2203	4300	6503	SO:0001583	missense	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10742738G>C	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.729G>C	19.37:g.10742738G>C	ENSP00000336888:p.Met243Ile					SLC44A2_ENST00000407327.4_Missense_Mutation_p.M241I|SLC44A2_ENST00000335757.5_Missense_Mutation_p.M243I	p.M243I	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		10	838	+			243					B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	c.729G>C	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291575	0.59976	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.10192	2.9;2.9	4.93	4.93	0.64822	.	0.082791	0.85682	D	0.000000	T	0.23492	0.0568	M	0.87180	2.865	0.52501	D	0.999953	B;P	0.37398	0.273;0.593	B;B	0.39027	0.15;0.288	T	0.09751	-1.0660	10	0.62326	D	0.03	.	16.9535	0.86252	0.0:0.0:1.0:0.0	.	243;241	Q8IWA5;Q8IWA5-3	CTL2_HUMAN;.	I	241;243;243	ENSP00000385135:M241I;ENSP00000336888:M243I	ENSP00000336888:M243I	M	+	3	0	SLC44A2	10603738	1.000000	0.71417	0.933000	0.37362	0.608000	0.37181	9.233000	0.95337	2.301000	0.77427	0.442000	0.29010	ATG		0.572	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			6	204	0	0	0	1	0	6	204				
SLITRK5	26050	broad.mit.edu	37	13	88327882	88327882	+	Missense_Mutation	SNP	G	G	C	rs144076922		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:88327882G>C	ENST00000325089.6	+	2	458	c.239G>C	c.(238-240)cGt>cCt	p.R80P	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	80					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AGCCCTCCCCGTTTCCCAATC	0.458																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(238-240)cGt>cCt		SLIT and NTRK-like family, member 5							162.0	162.0	162.0					13																	88327882		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88327882G>C	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.239G>C	13.37:g.88327882G>C	ENSP00000366283:p.Arg80Pro					SLITRK5_ENST00000400028.3_Intron	p.R80P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	458	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		80					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.239G>C	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	7.919	0.738131	0.15574	.	.	ENSG00000165300	ENST00000325089	T	0.52057	0.68	5.94	5.08	0.68730	.	0.257891	0.37178	N	0.002203	T	0.27900	0.0687	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.07347	-1.0777	9	.	.	.	-6.4802	14.7243	0.69332	0.0:0.1458:0.8542:0.0	.	80	O94991	SLIK5_HUMAN	P	80	ENSP00000366283:R80P	.	R	+	2	0	SLITRK5	87125883	0.994000	0.37717	0.998000	0.56505	0.938000	0.57974	3.199000	0.51043	1.486000	0.48398	0.561000	0.74099	CGT		0.458	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			76	140	0	0	0	1	0	76	140				
STX4	6810	broad.mit.edu	37	16	31046317	31046317	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:31046317G>T	ENST00000313843.3	+	5	649	c.334G>T	c.(334-336)Gat>Tat	p.D112Y	STX4_ENST00000394998.1_Missense_Mutation_p.D110Y|STX4_ENST00000493902.1_3'UTR	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	112					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GGAGGAAGCTGATGAGAACTA	0.393																																						ENST00000394998.1																			0				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						c.(328-330)Gat>Tat		syntaxin 4							87.0	95.0	92.0					16																	31046317		2197	4300	6497	SO:0001583	missense	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31046317G>T	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.334G>T	16.37:g.31046317G>T	ENSP00000317714:p.Asp112Tyr					STX4_ENST00000313843.3_Missense_Mutation_p.D112Y|STX4_ENST00000493902.1_3'UTR	p.D110Y	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN			6	671	+			112					A8MXY0|Q15525|Q6FHE8	Missense_Mutation	SNP	ENST00000313843.3	37	c.328G>T	CCDS10700.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623364	0.87460	.	.	ENSG00000103496	ENST00000457779;ENST00000394998;ENST00000313843	T;T;T	0.23950	2.3;1.88;1.88	5.77	5.77	0.91146	t-SNARE (1);Syntaxin, N-terminal (2);	0.144833	0.64402	D	0.000008	T	0.50684	0.1630	M	0.69823	2.125	0.49213	D	0.999761	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.979	T	0.50215	-0.8854	10	0.87932	D	0	.	15.5538	0.76173	0.0:0.0:1.0:0.0	.	112;110	Q12846;A8MXY0	STX4_HUMAN;.	Y	164;110;112	ENSP00000390788:D164Y;ENSP00000378447:D110Y;ENSP00000317714:D112Y	ENSP00000317714:D112Y	D	+	1	0	STX4	30953818	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.328000	0.72915	2.747000	0.94245	0.549000	0.68633	GAT		0.393	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604		21	107	1	0	4.26978e-12	1	4.85171e-12	21	107				
KLHL13	90293	broad.mit.edu	37	X	117033123	117033123	+	Silent	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:117033123G>T	ENST00000262820.3	-	7	2625	c.1716C>A	c.(1714-1716)gcC>gcA	p.A572A	KLHL13_ENST00000540167.1_Silent_p.A556A|KLHL13_ENST00000539496.1_Silent_p.A575A|KLHL13_ENST00000545703.1_Silent_p.A530A|KLHL13_ENST00000541812.1_Silent_p.A556A|KLHL13_ENST00000371878.1_Silent_p.A521A|KLHL13_ENST00000371876.1_Silent_p.A521A|KLHL13_ENST00000469946.1_Silent_p.A521A|KLHL13_ENST00000371882.1_Silent_p.A521A	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	572					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CTCTTAACATGGCAGCAATTG	0.433																																						ENST00000371876.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(1561-1563)gcC>gcA		kelch-like family member 13							175.0	156.0	162.0					X																	117033123		2203	4300	6503	SO:0001819	synonymous_variant	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117033123G>T	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1716C>A	X.37:g.117033123G>T						KLHL13_ENST00000262820.3_Silent_p.A572A|KLHL13_ENST00000541812.1_Silent_p.A556A|KLHL13_ENST00000540167.1_Silent_p.A556A|KLHL13_ENST00000545703.1_Silent_p.A530A|KLHL13_ENST00000371882.1_Silent_p.A521A|KLHL13_ENST00000469946.1_Silent_p.A521A|KLHL13_ENST00000371878.1_Silent_p.A521A|KLHL13_ENST00000539496.1_Silent_p.A575A	p.A521A			Q9P2N7	KLH13_HUMAN			6	3984	-			572					B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	ENST00000262820.3	37	c.1563C>A	CCDS14571.1																																																																																				0.433	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		34	169	1	0	1.45844e-13	1	1.67849e-13	34	169				
CYP2R1	120227	broad.mit.edu	37	11	14902204	14902204	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:14902204C>G	ENST00000334636.5	-	3	524	c.478G>C	c.(478-480)Gaa>Caa	p.E160Q	CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000532378.1_Intron	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	160					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	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 (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	TTGGTTTCTTCCAAGATTTTA	0.338																																					NSCLC(173;1584 2058 26117 29365 41534)	ENST00000334636.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(478-480)Gaa>Caa		cytochrome P450, family 2, subfamily R, polypeptide 1	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						52.0	55.0	54.0					11																	14902204		2200	4293	6493	SO:0001583	missense	120227				hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	g.chr11:14902204C>G	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.478G>C	11.37:g.14902204C>G	ENSP00000334592:p.Glu160Gln					CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000532378.1_Intron	p.E160Q	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN			3	524	-			160					Q2M3H3|Q5RT65	Missense_Mutation	SNP	ENST00000334636.5	37	c.478G>C	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756309	0.69648	.	.	ENSG00000186104	ENST00000334636	T	0.70045	-0.45	5.9	4.98	0.66077	.	0.092298	0.64402	D	0.000001	T	0.75250	0.3824	M	0.64080	1.96	0.58432	D	0.999999	D;P	0.65815	0.995;0.542	P;P	0.57502	0.822;0.593	T	0.76737	-0.2849	10	0.59425	D	0.04	.	14.474	0.67535	0.0:0.9301:0.0:0.0699	.	45;160	E9PS56;Q6VVX0	.;CP2R1_HUMAN	Q	160	ENSP00000334592:E160Q	ENSP00000334592:E160Q	E	-	1	0	CYP2R1	14858780	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.963000	0.63694	2.786000	0.95864	0.561000	0.74099	GAA		0.338	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514		5	28	0	0	0	1	0	5	28				
CFP	5199	broad.mit.edu	37	X	47487641	47487641	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:47487641G>T	ENST00000396992.3	-	3	383	c.263C>A	c.(262-264)cCc>cAc	p.P88H	CFP_ENST00000480317.1_5'UTR|CFP_ENST00000377005.2_Missense_Mutation_p.P88H|CFP_ENST00000247153.3_Missense_Mutation_p.P88H	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	88	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CACCGAACAGGGGGCCCATGT	0.622																																						ENST00000247153.3																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						c.(262-264)cCc>cAc		complement factor properdin							38.0	34.0	35.0					X																	47487641		2203	4299	6502	SO:0001583	missense	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47487641G>T	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.263C>A	X.37:g.47487641G>T	ENSP00000380189:p.Pro88His					CFP_ENST00000377005.2_Missense_Mutation_p.P88H|CFP_ENST00000396992.3_Missense_Mutation_p.P88H|CFP_ENST00000480317.1_5'UTR	p.P88H	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN			4	504	-			88			TSP type-1 1.		O15134|O15135|O15136|O75826	Missense_Mutation	SNP	ENST00000396992.3	37	c.263C>A	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728632	0.48833	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005	T;T;T	0.58797	0.31;0.31;0.31	5.97	5.97	0.96955	.	0.358770	0.29940	N	0.010814	T	0.76018	0.3929	M	0.78801	2.425	0.38849	D	0.95623	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.79215	-0.1895	10	0.56958	D	0.05	.	14.562	0.68148	0.0:0.0:1.0:0.0	.	24;88	B3KVK6;P27918	.;PROP_HUMAN	H	88	ENSP00000380189:P88H;ENSP00000247153:P88H;ENSP00000366204:P88H	ENSP00000247153:P88H	P	-	2	0	CFP	47372585	1.000000	0.71417	0.992000	0.48379	0.059000	0.15707	3.611000	0.54132	2.517000	0.84864	0.600000	0.82982	CCC		0.622	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		14	15	1	0	6.31663e-08	1	6.89349e-08	14	15				
PDZRN4	29951	broad.mit.edu	37	12	41967276	41967276	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:41967276C>G	ENST00000402685.2	+	10	2703	c.2695C>G	c.(2695-2697)Cgg>Ggg	p.R899G	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R641G|PDZRN4_ENST00000298919.7_Missense_Mutation_p.R639G	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	899							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R641G(1)|p.R899G(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CGACGGGACACGGTACATCAC	0.517																																						ENST00000298919.7																			2	Substitution - Missense(2)	p.R641G(1)|p.R899G(1)	lung(2)	breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1915-1917)Cgg>Ggg		PDZ domain containing ring finger 4							109.0	98.0	102.0					12																	41967276		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967276C>G	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2695C>G	12.37:g.41967276C>G	ENSP00000384197:p.Arg899Gly					PDZRN4_ENST00000539469.2_Missense_Mutation_p.R641G|PDZRN4_ENST00000402685.2_Missense_Mutation_p.R899G	p.R639G			Q6ZMN7	PZRN4_HUMAN			10	2303	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	899					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1915C>G	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816028	0.50527	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.50001	0.76;0.76;0.76	5.34	4.44	0.53790	.	0.000000	0.64402	D	0.000001	T	0.68860	0.3047	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.73199	-0.4058	10	0.87932	D	0	-17.0679	9.6797	0.40063	0.258:0.6282:0.1138:0.0	.	899;639;641	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	G	899;641;639	ENSP00000384197:R899G;ENSP00000439990:R641G;ENSP00000298919:R639G	ENSP00000298919:R639G	R	+	1	2	PDZRN4	40253543	0.931000	0.31567	0.868000	0.34077	0.922000	0.55478	2.008000	0.40893	1.559000	0.49555	0.650000	0.86243	CGG		0.517	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		16	105	0	0	0	1	0	16	105				
DHRS4L2	317749	broad.mit.edu	37	14	24464335	24464335	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:24464335G>C	ENST00000335125.6	+	3	527	c.401G>C	c.(400-402)tGg>tCg	p.W134S	DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.W134S|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.W134S|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.W33S|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.W132S	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	132						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		GAGGAGGTGTGGGACAAGGTG	0.507																																						ENST00000335125.6																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10						c.(400-402)tGg>tCg		dehydrogenase/reductase (SDR family) member 4 like 2							309.0	285.0	293.0					14																	24464335		2203	4300	6503	SO:0001583	missense	317749						binding|oxidoreductase activity	g.chr14:24464335G>C		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.401G>C	14.37:g.24464335G>C	ENSP00000334801:p.Trp134Ser					DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.W134S|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.W134S|DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.W132S|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.W33S	p.W134S	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	3	527	+			74					Q3YLD4	Missense_Mutation	SNP	ENST00000335125.6	37	c.401G>C	CCDS9606.2	.	.	.	.	.	.	.	.	.	.	-	19.88	3.909594	0.72868	.	.	ENSG00000187630	ENST00000534993;ENST00000397071;ENST00000335125;ENST00000545240;ENST00000382755	D;D;T;T	0.88354	-2.37;-2.37;1.72;1.72	4.64	4.64	0.57946	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94670	0.8281	M	0.85710	2.77	0.49051	D	0.999748	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95515	0.8589	10	0.87932	D	0	.	15.0641	0.71980	0.0:0.0:1.0:0.0	.	132;132	D3YTE6;Q6PKH6	.;DR4L2_HUMAN	S	33;134;134;134;132	ENSP00000380261:W134S;ENSP00000334801:W134S;ENSP00000437883:W134S;ENSP00000372203:W132S	ENSP00000334801:W134S	W	+	2	0	DHRS4L2	23534175	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	8.606000	0.90888	2.125000	0.65367	0.398000	0.26397	TGG		0.507	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			36	387	0	0	0	1	0	36	387				
RANBP6	26953	broad.mit.edu	37	9	6013708	6013708	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:6013708C>G	ENST00000259569.5	-	1	1910	c.1900G>C	c.(1900-1902)Gtt>Ctt	p.V634L	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	634					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GGCTCGATAACCAGTGGAAGG	0.408																																						ENST00000259569.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1900-1902)Gtt>Ctt		RAN binding protein 6							109.0	111.0	111.0					9																	6013708		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6013708C>G	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1900G>C	9.37:g.6013708C>G	ENSP00000259569:p.Val634Leu					RANBP6_ENST00000485372.1_5'UTR	p.V634L	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	1910	-		Acute lymphoblastic leukemia(23;0.158)	634					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.1900G>C	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268951	0.59540	.	.	ENSG00000137040	ENST00000259569	T	0.67523	-0.27	4.11	4.11	0.48088	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	D	0.82697	0.5093	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.984	D	0.85203	0.1016	10	0.52906	T	0.07	-13.802	14.2719	0.66157	0.0:1.0:0.0:0.0	.	222;634	B4DTX6;O60518	.;RNBP6_HUMAN	L	634	ENSP00000259569:V634L	ENSP00000259569:V634L	V	-	1	0	RANBP6	6003708	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.685000	0.68204	2.293000	0.77203	0.650000	0.86243	GTT		0.408	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		61	104	0	0	0	1	0	61	104				
SH3TC1	54436	broad.mit.edu	37	4	8218736	8218736	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:8218736C>T	ENST00000245105.3	+	7	748	c.681C>T	c.(679-681)ccC>ccT	p.P227P	SH3TC1_ENST00000539824.1_Silent_p.P151P	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	227										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TGACGGGTCCCCGGGATGCAG	0.662																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(451-453)ccC>ccT		SH3 domain and tetratricopeptide repeats 1							89.0	83.0	85.0					4																	8218736		2203	4300	6503	SO:0001819	synonymous_variant	54436						binding	g.chr4:8218736C>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.681C>T	4.37:g.8218736C>T						SH3TC1_ENST00000245105.3_Silent_p.P227P	p.P151P			Q8TE82	S3TC1_HUMAN			7	827	+			227					Q4W5G5	Silent	SNP	ENST00000245105.3	37	c.453C>T	CCDS3399.1																																																																																				0.662	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		26	46	0	0	0	1	0	26	46				
GPR98	84059	broad.mit.edu	37	5	90055237	90055237	+	Missense_Mutation	SNP	G	G	C	rs267600731		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:90055237G>C	ENST00000405460.2	+	58	12048	c.11952G>C	c.(11950-11952)atG>atC	p.M3984I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3984	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTACTGCAATGATAGAAATCA	0.388																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(11950-11952)atG>atC		G protein-coupled receptor 98							106.0	93.0	97.0					5																	90055237		1913	4145	6058	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90055237G>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11952G>C	5.37:g.90055237G>C	ENSP00000384582:p.Met3984Ile						p.M3984I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	58	12048	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3984			Calx-beta 26.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.11952G>C	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.257|1.257	-0.616979|-0.616979	0.03663|0.03663	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.28666|.	1.6|.	5.08|5.08	3.23|3.23	0.37069|0.37069	Na-Ca exchanger/integrin-beta4 (2);|.	1.569980|.	0.02754|.	N|.	0.117750|.	T|.	0.22126|.	0.0533|.	N|N	0.11313|0.11313	0.125|0.125	0.32004|0.32004	N|N	0.602965|0.602965	B;B|.	0.14438|.	0.008;0.01|.	B;B|.	0.22386|.	0.039;0.014|.	T|.	0.24119|.	-1.0169|.	10|.	0.23891|.	T|.	0.37|.	.|.	5.4807|5.4807	0.16721|0.16721	0.2395:0.0:0.6056:0.1549|0.2395:0.0:0.6056:0.1549	.|.	3984;3984|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	I|S	3984|1550	ENSP00000384582:M3984I|.	ENSP00000296619:M3984I|.	M|X	+|+	3|2	0|2	GPR98|GPR98	90090993|90090993	0.002000|0.002000	0.14202|0.14202	0.184000|0.184000	0.23157|0.23157	0.344000|0.344000	0.29017|0.29017	0.019000|0.019000	0.13444|0.13444	1.252000|1.252000	0.44001|0.44001	0.563000|0.563000	0.77884|0.77884	ATG|TGA		0.388	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		4	0	0	0	0	1	0	4	0				
SERPINB12	89777	broad.mit.edu	37	18	61232769	61232769	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:61232769G>C	ENST00000269491.1	+	6	737	c.737G>C	c.(736-738)aGg>aCg	p.R246T	SERPINB12_ENST00000382768.1_Missense_Mutation_p.R266T	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	246					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						CTGGAAATGAGGTACACCAAG	0.453																																						ENST00000382768.1																			0				kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(796-798)aGg>aCg		serpin peptidase inhibitor, clade B (ovalbumin), member 12							167.0	145.0	152.0					18																	61232769		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61232769G>C	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.737G>C	18.37:g.61232769G>C	ENSP00000269491:p.Arg246Thr					SERPINB12_ENST00000269491.1_Missense_Mutation_p.R246T	p.R266T			Q96P63	SPB12_HUMAN			6	797	+			246					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.797G>C	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	G	8.676	0.904051	0.17760	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84070	-1.8;-1.8	5.44	-3.42	0.04825	Serpin domain (3);	1.092590	0.06967	N	0.817385	T	0.74061	0.3667	L	0.33245	0.995	0.09310	N	0.999997	B;B	0.18741	0.03;0.023	B;B	0.17098	0.017;0.008	T	0.62067	-0.6932	10	0.87932	D	0	.	10.8459	0.46743	0.3325:0.4882:0.1793:0.0	.	266;246	Q3SYB4;Q96P63	.;SPB12_HUMAN	T	246;266	ENSP00000269491:R246T;ENSP00000372218:R266T	ENSP00000269491:R246T	R	+	2	0	SERPINB12	59383749	0.005000	0.15991	0.001000	0.08648	0.182000	0.23217	0.174000	0.16743	-0.653000	0.05401	0.650000	0.86243	AGG		0.453	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		5	83	0	0	0	1	0	5	83				
SEMA4D	10507	broad.mit.edu	37	9	91993742	91993742	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:91993742G>C	ENST00000450295.1	-	16	3242	c.2466C>G	c.(2464-2466)atC>atG	p.I822M	SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000438547.2_Missense_Mutation_p.I822M|SEMA4D_ENST00000422704.2_Missense_Mutation_p.I822M|SEMA4D_ENST00000356444.2_Missense_Mutation_p.I822M|SEMA4D_ENST00000339861.4_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	822					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.I822I(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTTTGCTGGTGATGGTGTCTT	0.577																																						ENST00000450295.1																			1	Substitution - coding silent(1)	p.I822I(1)	pancreas(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(2464-2466)atC>atG		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D							132.0	108.0	116.0					9																	91993742		2203	4300	6503	SO:0001583	missense	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:91993742G>C	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.2466C>G	9.37:g.91993742G>C	ENSP00000416523:p.Ile822Met					SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Missense_Mutation_p.I822M|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000438547.2_Missense_Mutation_p.I822M|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000422704.2_Missense_Mutation_p.I822M	p.I822M			Q92854	SEM4D_HUMAN			16	3242	-			822					B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	37	c.2466C>G	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	G	9.951	1.220141	0.22373	.	.	ENSG00000187764	ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	4.86	1.9	0.25705	.	1.102550	0.06675	N	0.767026	T	0.09335	0.0230	N	0.02916	-0.46	0.27357	N	0.956083	B	0.10296	0.003	B	0.06405	0.002	T	0.31364	-0.9946	10	0.27785	T	0.31	.	7.4333	0.27141	0.0:0.4393:0.3165:0.2442	.	822	Q92854	SEM4D_HUMAN	M	822	ENSP00000416523:I822M;ENSP00000405102:I822M;ENSP00000348822:I822M;ENSP00000388768:I822M	ENSP00000348822:I822M	I	-	3	3	SEMA4D	91183562	0.792000	0.28813	0.999000	0.59377	0.907000	0.53573	0.013000	0.13310	0.762000	0.33152	0.462000	0.41574	ATC		0.577	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		9	55	0	0	0	1	0	9	55				
AKAP12	9590	broad.mit.edu	37	6	151673115	151673115	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:151673115G>A	ENST00000253332.1	+	3	3778	c.3589G>A	c.(3589-3591)Gag>Aag	p.E1197K	AKAP12_ENST00000354675.6_Missense_Mutation_p.E1099K|AKAP12_ENST00000359755.5_Missense_Mutation_p.E1092K|AKAP12_ENST00000402676.2_Missense_Mutation_p.E1197K			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1197					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AATCCATGAGGAGAATGAGGT	0.547																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(3589-3591)Gag>Aag		A kinase (PRKA) anchor protein 12							85.0	82.0	83.0					6																	151673115		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151673115G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3589G>A	6.37:g.151673115G>A	ENSP00000253332:p.Glu1197Lys					AKAP12_ENST00000354675.6_Missense_Mutation_p.E1099K|AKAP12_ENST00000359755.5_Missense_Mutation_p.E1092K|AKAP12_ENST00000253332.1_Missense_Mutation_p.E1197K	p.E1197K	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	3829	+		Ovarian(120;0.125)	1197					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.3589G>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595793	0.28445	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.08458	3.09;3.09;3.1;3.1	5.08	2.01	0.26516	.	1.890710	0.03033	N	0.152408	T	0.01222	0.0040	N	0.14661	0.345	0.09310	N	1	B;B;B	0.24920	0.114;0.114;0.07	B;B;B	0.24394	0.053;0.053;0.024	T	0.39078	-0.9631	10	0.09084	T	0.74	.	2.9093	0.05732	0.1645:0.1387:0.5546:0.1423	.	1092;1099;1197	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	K	1197;1197;1099;1092	ENSP00000384537:E1197K;ENSP00000253332:E1197K;ENSP00000346702:E1099K;ENSP00000352794:E1092K	ENSP00000253332:E1197K	E	+	1	0	AKAP12	151714808	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	0.150000	0.16263	1.107000	0.41642	0.455000	0.32223	GAG		0.547	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			18	100	0	0	0	1	0	18	100				
ARHGEF19	128272	broad.mit.edu	37	1	16532501	16532501	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:16532501C>A	ENST00000270747.3	-	8	1512	c.1376G>T	c.(1375-1377)tGc>tTc	p.C459F	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	459	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGGCCGGGCAGTGGTCCAG	0.652																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(1375-1377)tGc>tTc		Rho guanine nucleotide exchange factor (GEF) 19							46.0	44.0	45.0					1																	16532501		2203	4299	6502	SO:0001583	missense	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16532501C>A	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1376G>T	1.37:g.16532501C>A	ENSP00000270747:p.Cys459Phe					ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Missense_Mutation_p.C459F	p.C459F	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	8	1512	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	459			DH.		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	c.1376G>T	CCDS170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.24|17.24	3.338836|3.338836	0.60963|0.60963	.|.	.|.	ENSG00000142632|ENSG00000142632	ENST00000449495|ENST00000270747;ENST00000421561;ENST00000375607;ENST00000441785	.|T;T;T	.|0.61040	.|0.14;0.14;0.14	4.66|4.66	4.66|4.66	0.58398|0.58398	.|Dbl homology (DH) domain (5);	.|0.067451	.|0.64402	.|D	.|0.000013	T|T	0.50786|0.50786	0.1636|0.1636	L|L	0.39397|0.39397	1.21|1.21	0.43471|0.43471	D|D	0.995689|0.995689	.|B	.|0.33583	.|0.418	.|B	.|0.40825	.|0.341	T|T	0.50491|0.50491	-0.8822|-0.8822	5|10	.|0.37606	.|T	.|0.19	.|.	8.8197|8.8197	0.35018|0.35018	0.0:0.8962:0.0:0.1038|0.0:0.8962:0.0:0.1038	.|.	.|459	.|Q8IW93	.|ARHGJ_HUMAN	S|F	148|459;459;459;142	.|ENSP00000270747:C459F;ENSP00000396001:C459F;ENSP00000414370:C142F	.|ENSP00000270747:C459F	A|C	-|-	1|2	0|0	ARHGEF19|ARHGEF19	16405088|16405088	1.000000|1.000000	0.71417|0.71417	0.933000|0.933000	0.37362|0.37362	0.941000|0.941000	0.58515|0.58515	3.051000|3.051000	0.49885|0.49885	2.129000|2.129000	0.65627|0.65627	0.561000|0.561000	0.74099|0.74099	GCC|TGC		0.652	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		5	8	1	0	0.00198382	1	0.00205252	5	8				
ABCC8	6833	broad.mit.edu	37	11	17415891	17415891	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:17415891G>C	ENST00000389817.3	-	37	4535	c.4467C>G	c.(4465-4467)ttC>ttG	p.F1489L	ABCC8_ENST00000302539.4_Missense_Mutation_p.F1490L			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1489	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GGGCCAGGCAGAACAGCTGCC	0.572																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(4468-4470)ttC>ttG		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						68.0	67.0	67.0					11																	17415891		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17415891G>C	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4467C>G	11.37:g.17415891G>C	ENSP00000374467:p.Phe1489Leu					ABCC8_ENST00000389817.3_Missense_Mutation_p.F1489L	p.F1490L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	37	4595	-			1489			ABC transporter 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.4470C>G	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673241	0.47781	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.87179	-2.22;-2.22	4.94	1.98	0.26296	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.121057	0.56097	N	0.000028	T	0.57533	0.2060	N	0.00272	-1.73	0.54753	D	0.999982	B	0.09022	0.002	B	0.12837	0.008	T	0.50415	-0.8831	10	0.38643	T	0.18	.	7.3089	0.26463	0.1545:0.1407:0.7049:0.0	.	1489	Q09428	ABCC8_HUMAN	L	1489;1490	ENSP00000374467:F1489L;ENSP00000303960:F1490L	ENSP00000303960:F1490L	F	-	3	2	ABCC8	17372467	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.423000	0.52756	0.465000	0.27167	0.557000	0.71058	TTC		0.572	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		24	51	0	0	0	1	0	24	51				
TTC17	55761	broad.mit.edu	37	11	43469657	43469657	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:43469657C>G	ENST00000039989.4	+	19	2785	c.2771C>G	c.(2770-2772)tCt>tGt	p.S924C		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	924					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTTGCAGTTTCTTCAAAAAAC	0.502																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(2770-2772)tCt>tGt		tetratricopeptide repeat domain 17							75.0	61.0	66.0					11																	43469657		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43469657C>G	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2771C>G	11.37:g.43469657C>G	ENSP00000039989:p.Ser924Cys						p.S924C	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			19	2785	+			924					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.2771C>G	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928105	0.92389	.	.	ENSG00000052841	ENST00000039989	T	0.36157	1.27	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.50326	0.1609	L	0.44542	1.39	0.80722	D	1	D	0.69078	0.997	P	0.57283	0.817	T	0.38520	-0.9657	10	0.51188	T	0.08	-14.5716	20.3011	0.98612	0.0:1.0:0.0:0.0	.	924	Q96AE7	TTC17_HUMAN	C	924	ENSP00000039989:S924C	ENSP00000039989:S924C	S	+	2	0	TTC17	43426233	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.008000	0.76341	2.804000	0.96469	0.650000	0.86243	TCT		0.502	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		6	36	0	0	0	1	0	6	36				
FLG	2312	broad.mit.edu	37	1	152282944	152282944	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:152282944G>C	ENST00000368799.1	-	3	4453	c.4418C>G	c.(4417-4419)gCa>gGa	p.A1473G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1473	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTTTCGTGCCTGCTCATG	0.577									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4417-4419)gCa>gGa		filaggrin							312.0	300.0	304.0					1																	152282944		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282944G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4418C>G	1.37:g.152282944G>C	ENSP00000357789:p.Ala1473Gly					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.A1473G	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4453	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1473			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4418C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.815	1.184230	0.21870	.	.	ENSG00000143631	ENST00000368799	T	0.01787	4.64	3.31	-0.00309	0.14027	.	.	.	.	.	T	0.00666	0.0022	M	0.62723	1.935	0.09310	N	1	B	0.26081	0.141	B	0.15052	0.012	T	0.43988	-0.9357	9	0.21014	T	0.42	.	5.8313	0.18582	0.0:0.1889:0.424:0.3871	.	1473	P20930	FILA_HUMAN	G	1473	ENSP00000357789:A1473G	ENSP00000357789:A1473G	A	-	2	0	FLG	150549568	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.122000	0.10627	-0.090000	0.12462	-0.314000	0.08810	GCA		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		119	263	0	0	0	1	0	119	263				
EARS2	124454	broad.mit.edu	37	16	23536649	23536649	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:23536649T>A	ENST00000563459.1	-	8	1410	c.1404A>T	c.(1402-1404)gaA>gaT	p.E468D	EARS2_ENST00000563232.1_Missense_Mutation_p.E468D|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Missense_Mutation_p.E468D|EARS2_ENST00000449606.1_Missense_Mutation_p.E468D			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	468					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		GCTTCTTCAGTTCTCCATTCA	0.498																																						ENST00000449606.1																			0				central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1402-1404)gaA>gaT		glutamyl-tRNA synthetase 2, mitochondrial	L-Glutamic Acid(DB00142)						149.0	143.0	145.0					16																	23536649		1942	4137	6079	SO:0001583	missense	124454				glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	g.chr16:23536649T>A	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.1404A>T	16.37:g.23536649T>A	ENSP00000456467:p.Glu468Asp					EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000563232.1_Missense_Mutation_p.E468D|EARS2_ENST00000563459.1_Missense_Mutation_p.E468D|EARS2_ENST00000564501.1_Missense_Mutation_p.E468D	p.E468D	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN		GBM - Glioblastoma multiforme(48;0.0353)	8	1435	-			468					B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	ENST00000563459.1	37	c.1404A>T	CCDS42132.1	.	.	.	.	.	.	.	.	.	.	T	7.614	0.675327	0.14841	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.44881	0.91	5.17	-5.36	0.02689	Aminoacyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class I, anticodon-binding domain, subdomain 2 (1);	0.098532	0.64402	D	0.000002	T	0.28234	0.0697	L	0.49640	1.575	0.41873	D	0.990282	B;B	0.13145	0.007;0.001	B;B	0.10450	0.003;0.005	T	0.21724	-1.0237	10	0.14252	T	0.57	-21.3	11.6464	0.51263	0.0:0.578:0.1149:0.3071	.	468;468	Q86YH3;Q5JPH6	.;SYEM_HUMAN	D	468	ENSP00000395196:E468D	ENSP00000343488:E468D	E	-	3	2	EARS2	23444150	0.798000	0.28890	0.715000	0.30552	0.399000	0.30720	-0.218000	0.09240	-0.987000	0.03494	-0.464000	0.05259	GAA		0.498	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		29	46	0	0	0	1	0	29	46				
PKN1	5585	broad.mit.edu	37	19	14552082	14552082	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:14552082T>G	ENST00000242783.6	+	2	314	c.149T>G	c.(148-150)cTg>cGg	p.L50R	PKN1_ENST00000342216.4_Missense_Mutation_p.L56R|PKN1_ENST00000587429.1_3'UTR	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	50					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CGCAAGGAGCTGAAGCTGAAG	0.736																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(148-150)cTg>cGg		protein kinase N1							5.0	8.0	7.0					19																	14552082		1818	3971	5789	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14552082T>G	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.149T>G	19.37:g.14552082T>G	ENSP00000242783:p.Leu50Arg					PKN1_ENST00000587429.1_3'UTR|PKN1_ENST00000342216.4_Missense_Mutation_p.L56R	p.L50R	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			2	314	+			50					A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.149T>G	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030646	0.75504	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.17854	2.25;2.25	4.14	4.14	0.48551	.	0.000000	0.51477	U	0.000082	T	0.42966	0.1226	M	0.82823	2.61	0.50313	D	0.999867	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	T	0.45833	-0.9234	10	0.87932	D	0	-87.0566	11.1075	0.48212	0.0:0.0:0.0:1.0	.	56;50	Q16512-2;Q16512	.;PKN1_HUMAN	R	50;56	ENSP00000242783:L50R;ENSP00000343325:L56R	ENSP00000242783:L50R	L	+	2	0	PKN1	14413082	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.174000	0.77620	1.507000	0.48752	0.254000	0.18369	CTG		0.736	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		4	6	0	0	0	1	0	4	6				
ICA1	3382	broad.mit.edu	37	7	8178497	8178497	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:8178497G>C	ENST00000402384.3	-	12	1299	c.1033C>G	c.(1033-1035)Cta>Gta	p.L345V	ICA1_ENST00000265577.7_Missense_Mutation_p.L344V|ICA1_ENST00000396675.3_Missense_Mutation_p.L345V|ICA1_ENST00000401396.1_Missense_Mutation_p.L333V|ICA1_ENST00000422063.2_Missense_Mutation_p.L374V|ICA1_ENST00000406470.2_Missense_Mutation_p.L345V			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	345					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		ATGTCTAATAGTTCATCTATG	0.284																																						ENST00000402384.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23						c.(1033-1035)Cta>Gta		islet cell autoantigen 1, 69kDa							83.0	94.0	90.0					7																	8178497		2202	4299	6501	SO:0001583	missense	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8178497G>C		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1033C>G	7.37:g.8178497G>C	ENSP00000385570:p.Leu345Val					ICA1_ENST00000265577.7_Missense_Mutation_p.L344V|ICA1_ENST00000422063.2_Missense_Mutation_p.L374V|ICA1_ENST00000396675.3_Missense_Mutation_p.L345V|ICA1_ENST00000406470.2_Missense_Mutation_p.L345V|ICA1_ENST00000401396.1_Missense_Mutation_p.L333V	p.L345V			Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	12	1299	-		Ovarian(82;0.0612)	345					A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	37	c.1033C>G	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468578	0.43839	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063	.	.	.	5.02	4.14	0.48551	Islet cell autoantigen Ica1, C-terminal (1);	0.488362	0.20558	N	0.089969	T	0.63780	0.2540	L	0.40543	1.245	0.54753	D	0.999988	D;D;D;D	0.69078	0.996;0.997;0.997;0.997	D;D;D;D	0.79108	0.951;0.954;0.954;0.992	T	0.63233	-0.6683	9	0.51188	T	0.08	-8.5291	7.7128	0.28688	0.1849:0.0:0.8151:0.0	.	374;344;345;333	B3FTQ2;Q96HG3;Q05084;E9PDL4	.;.;ICA69_HUMAN;.	V	345;345;344;345;333;374	.	ENSP00000265577:L344V	L	-	1	2	ICA1	8145022	0.991000	0.36638	0.990000	0.47175	0.754000	0.42855	1.057000	0.30492	1.499000	0.48617	0.655000	0.94253	CTA		0.284	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		4	74	0	0	0	1	0	4	74				
PTPRD	5789	broad.mit.edu	37	9	8528601	8528601	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:8528601C>A	ENST00000381196.4	-	12	1074	c.531G>T	c.(529-531)caG>caT	p.Q177H	PTPRD_ENST00000356435.5_Missense_Mutation_p.Q177H|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q177H|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q177H|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q177H|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q177H|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q177H|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q177H|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q177H|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q177H|PTPRD_ENST00000463477.1_Missense_Mutation_p.Q177H|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q177H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	177	Ig-like C2-type 2.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGATCGTAACTGCTTAATAC	0.338										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(529-531)caG>caT		protein tyrosine phosphatase, receptor type, D							145.0	130.0	135.0					9																	8528601		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8528601C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.531G>T	9.37:g.8528601C>A	ENSP00000370593:p.Gln177His	TSP Lung(15;0.13)				PTPRD_ENST00000397611.3_Missense_Mutation_p.Q177H|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q177H|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q177H|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q177H|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q177H|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q177H|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q177H|PTPRD_ENST00000463477.1_Missense_Mutation_p.Q177H|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q177H|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q177H|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q177H	p.Q177H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	12	1074	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	177			Ig-like C2-type 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.531G>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685632	0.47991	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477	T;T;T;T;T;T;T;T;T;T;T;T	0.71698	-0.24;-0.24;-0.27;-0.27;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.59	6.17	5.28	0.74379	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74390	0.3710	L	0.31664	0.95	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D;D	0.89917	0.995;0.999;0.999;0.999;1.0;0.997;1.0;1.0;0.999;0.999	D;D;D;D;D;P;D;D;D;D	0.91635	0.986;0.975;0.999;0.982;0.998;0.725;0.999;0.987;0.947;0.97	T	0.73248	-0.4043	9	.	.	.	.	11.9644	0.53027	0.0:0.8204:0.0:0.1796	.	177;177;177;177;177;177;177;177;177;177	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	177	ENSP00000370593:Q177H;ENSP00000348812:Q177H;ENSP00000353187:Q177H;ENSP00000351293:Q177H;ENSP00000347373:Q177H;ENSP00000380741:Q177H;ENSP00000380735:Q177H;ENSP00000440515:Q177H;ENSP00000438164:Q177H;ENSP00000417093:Q177H;ENSP00000380731:Q177H;ENSP00000417661:Q177H	.	Q	-	3	2	PTPRD	8518601	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.683000	0.46943	1.626000	0.50381	0.655000	0.94253	CAG		0.338	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			61	99	1	0	6.56249e-45	1	8.28399e-45	61	99				
AREL1	9870	broad.mit.edu	37	14	75142547	75142547	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:75142547C>T	ENST00000356357.4	-	8	1450	c.935G>A	c.(934-936)tGg>tAg	p.W312*	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	312					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGGCAGGTGCCATGGAGTGCT	0.527																																						ENST00000356357.4																			0											c.(934-936)tGg>tAg		apoptosis resistant E3 ubiquitin protein ligase 1							148.0	158.0	154.0					14																	75142547		2094	4234	6328	SO:0001587	stop_gained	9870							g.chr14:75142547C>T	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.935G>A	14.37:g.75142547C>T	ENSP00000348714:p.Trp312*					AREL1_ENST00000557401.1_5'UTR	p.W312*	NM_001039479.1	NP_001034568.1					8	1450	-								B4E2C7|Q7LDY1|Q8IYY9	Nonsense_Mutation	SNP	ENST00000356357.4	37	c.935G>A	CCDS41971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.011843|4.011843	0.75046|0.75046	.|.	.|.	ENSG00000119682|ENSG00000119682	ENST00000490805|ENST00000356357;ENST00000543377;ENST00000556202	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.74084|.	0.3670|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.68503|.	-0.5391|.	3|.	.|0.30854	.|T	.|0.27	.|.	19.9987|19.9987	0.97401|0.97401	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	S|X	60|312;151;151	.|.	.|ENSP00000348714:W312X	G|W	-|-	1|2	0|0	KIAA0317|KIAA0317	74212300|74212300	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.912000|0.912000	0.54170|0.54170	7.506000|7.506000	0.81665|0.81665	2.738000|2.738000	0.93877|0.93877	0.591000|0.591000	0.81541|0.81541	GGC|TGG		0.527	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		75	128	0	0	0	1	0	75	128				
CCDC91	55297	broad.mit.edu	37	12	28459739	28459739	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:28459739A>G	ENST00000545336.1	+	8	751	c.332A>G	c.(331-333)aAa>aGa	p.K111R	CCDC91_ENST00000381256.1_Missense_Mutation_p.K111R|CCDC91_ENST00000306172.5_Missense_Mutation_p.K81R|CCDC91_ENST00000539107.1_Missense_Mutation_p.K111R|CCDC91_ENST00000381259.1_Missense_Mutation_p.K111R|CCDC91_ENST00000540401.1_3'UTR			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	111					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					ACTGATGAAAAAAGTAATGGA	0.353																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.(331-333)aAa>aGa		coiled-coil domain containing 91							89.0	94.0	93.0					12																	28459739		2203	4300	6503	SO:0001583	missense	55297				protein transport	Golgi apparatus|membrane		g.chr12:28459739A>G	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.332A>G	12.37:g.28459739A>G	ENSP00000438040:p.Lys111Arg					CCDC91_ENST00000539107.1_Missense_Mutation_p.K111R|CCDC91_ENST00000381256.1_Missense_Mutation_p.K111R|CCDC91_ENST00000381259.1_Missense_Mutation_p.K111R|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Missense_Mutation_p.K81R	p.K111R			Q7Z6B0	CCD91_HUMAN			8	751	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		111					B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	c.332A>G	CCDS8716.1	.	.	.	.	.	.	.	.	.	.	A	10.19	1.282892	0.23392	.	.	ENSG00000123106	ENST00000539107;ENST00000536442;ENST00000545336;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	T;T;T;T;T;T;T	0.32988	1.44;1.45;1.44;1.45;1.44;1.44;1.43	5.26	4.17	0.49024	.	0.875326	0.09820	N	0.751623	T	0.17365	0.0417	N	0.14661	0.345	0.21697	N	0.999587	B;B	0.30281	0.144;0.275	B;B	0.27796	0.048;0.083	T	0.23261	-1.0193	10	0.16896	T	0.51	-2.348	8.7619	0.34680	0.7525:0.2475:0.0:0.0	.	111;81	Q7Z6B0;Q7Z6B0-2	CCD91_HUMAN;.	R	111;111;111;111;111;111;81	ENSP00000440513:K111R;ENSP00000445660:K111R;ENSP00000438040:K111R;ENSP00000442544:K111R;ENSP00000370658:K111R;ENSP00000370655:K111R;ENSP00000305075:K81R	ENSP00000305075:K81R	K	+	2	0	CCDC91	28351006	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	2.074000	0.41529	1.092000	0.41356	0.528000	0.53228	AAA		0.353	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		24	46	0	0	0	1	0	24	46				
CRAT	1384	broad.mit.edu	37	9	131858334	131858334	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:131858334G>C	ENST00000318080.2	-	13	1902	c.1608C>G	c.(1606-1608)gaC>gaG	p.D536E	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	536					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CCATGAAGATGTCGGGCATGC	0.657																																						ENST00000318080.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(1606-1608)gaC>gaG		carnitine O-acetyltransferase	L-Carnitine(DB00583)						205.0	164.0	178.0					9																	131858334		2203	4300	6503	SO:0001583	missense	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131858334G>C	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.1608C>G	9.37:g.131858334G>C	ENSP00000315013:p.Asp536Glu						p.D536E	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	13	1902	-			536					Q5T952|Q9BW16	Missense_Mutation	SNP	ENST00000318080.2	37	c.1608C>G	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	G	3.496	-0.102778	0.06967	.	.	ENSG00000095321	ENST00000351352;ENST00000318080	D	0.87256	-2.23	5.15	2.21	0.28008	.	0.098090	0.64402	D	0.000002	T	0.51227	0.1662	N	0.00471	-1.455	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57148	-0.7861	10	0.02654	T	1	-52.826	1.1646	0.01813	0.1666:0.2333:0.3487:0.2514	.	536	P43155	CACP_HUMAN	E	455;536	ENSP00000315013:D536E	ENSP00000315013:D536E	D	-	3	2	CRAT	130898155	0.974000	0.33945	1.000000	0.80357	0.962000	0.63368	0.119000	0.15626	1.401000	0.46761	0.561000	0.74099	GAC		0.657	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			14	162	0	0	0	1	0	14	162				
PGBD3	267004	broad.mit.edu	37	10	50725112	50725112	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:50725112C>G	ENST00000374127.3	-	2	250	c.49G>C	c.(49-51)Gat>Cat	p.D17H	PGBD3_ENST00000603152.1_Missense_Mutation_p.D485H|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.D485H|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.D485H|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000508005.2_Missense_Mutation_p.D17H	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	17								p.D17Y(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						ATGCTGTCATCTGTCTCTAAA	0.393																																						ENST00000515869.1																			1	Substitution - Missense(1)	p.D17Y(1)	lung(1)								c.(1453-1455)Gat>Cat									123.0	125.0	124.0					10																	50725112		2203	4300	6503	SO:0001583	missense	101243544							g.chr10:50725112C>G	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.49G>C	10.37:g.50725112C>G	ENSP00000363242:p.Asp17His					PGBD3_ENST00000508005.2_Missense_Mutation_p.D17H|PGBD3_ENST00000603152.1_Missense_Mutation_p.D485H|PGBD3_ENST00000374127.3_Missense_Mutation_p.D17H|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.D485H|ERCC6_ENST00000355832.5_Intron	p.D485H	NM_001277059.1	NP_001263988.1					6	1573	-								B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	c.1453G>C	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808945	0.50421	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.21191	2.02;2.02;2.99;2.99	0.468	0.468	0.16732	.	.	.	.	.	T	0.13884	0.0336	N	0.08118	0	0.22873	N	0.998628	D;D	0.54964	0.969;0.969	P;P	0.49477	0.515;0.612	T	0.17899	-1.0354	8	0.72032	D	0.01	-19.0494	.	.	.	.	485;17	E7EV46;Q8N328	.;PGBD3_HUMAN	H	17;17;485;485	ENSP00000363242:D17H;ENSP00000426963:D17H;ENSP00000423550:D485H;ENSP00000387966:D485H	ENSP00000387966:D485H	D	-	1	0	PGBD3;RP11-123B3.6	50395118	0.964000	0.33143	0.993000	0.49108	0.992000	0.81027	1.591000	0.36665	0.488000	0.27723	0.491000	0.48974	GAT		0.393	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			5	137	0	0	0	1	0	5	137				
TMEM35	59353	broad.mit.edu	37	X	100334069	100334069	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:100334069C>A	ENST00000372930.4	+	1	361	c.78C>A	c.(76-78)atC>atA	p.I26I	TRMT2B-AS1_ENST00000443801.2_RNA	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	26						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						TGGGGACTATCAAGCTGACCC	0.567																																						ENST00000372930.4																			0				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						c.(76-78)atC>atA		transmembrane protein 35							109.0	81.0	90.0					X																	100334069		2203	4300	6503	SO:0001819	synonymous_variant	59353					cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane		g.chrX:100334069C>A	AK024146	CCDS14478.1	Xq22	2008-02-05			ENSG00000126950	ENSG00000126950			25864	protein-coding gene	gene with protein product							Standard	NM_021637		Approved	FLJ14084	uc004egw.3	Q53FP2	OTTHUMG00000022016	ENST00000372930.4:c.78C>A	X.37:g.100334069C>A							p.I26I	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN			1	361	+			26					Q9H7Y3	Silent	SNP	ENST00000372930.4	37	c.78C>A	CCDS14478.1																																																																																				0.567	TMEM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057508.1	NM_021637		20	21	1	0	4.96729e-08	1	5.45413e-08	20	21				
GRK7	131890	broad.mit.edu	37	3	141497592	141497592	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:141497592G>C	ENST00000264952.2	+	1	603	c.466G>C	c.(466-468)Gct>Cct	p.A156P		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	156	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TGAGGCCATGGCTTTCTTGCA	0.567																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(466-468)Gct>Cct		G protein-coupled receptor kinase 7							63.0	64.0	64.0					3																	141497592		2203	4300	6503	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141497592G>C		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.466G>C	3.37:g.141497592G>C	ENSP00000264952:p.Ala156Pro						p.A156P	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			1	603	+			156			RGS.			Missense_Mutation	SNP	ENST00000264952.2	37	c.466G>C	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296424	0.23650	.	.	ENSG00000114124	ENST00000264952	T	0.01998	4.51	4.79	2.0	0.26442	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.503387	0.20966	N	0.082477	T	0.02610	0.0079	L	0.34521	1.04	0.09310	N	1	P	0.35821	0.523	B	0.39617	0.305	T	0.43015	-0.9417	10	0.42905	T	0.14	-0.7834	9.8252	0.40908	0.2257:0.0:0.7743:0.0	.	156	Q8WTQ7	GRK7_HUMAN	P	156	ENSP00000264952:A156P	ENSP00000264952:A156P	A	+	1	0	GRK7	142980282	0.000000	0.05858	0.949000	0.38748	0.938000	0.57974	-0.178000	0.09782	0.097000	0.17492	0.563000	0.77884	GCT		0.567	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		5	58	0	0	0	1	0	5	58				
WASF3	10810	broad.mit.edu	37	13	27254337	27254337	+	Intron	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:27254337G>A	ENST00000335327.5	+	8	894				WASF3_ENST00000361042.4_Splice_Site_p.G236R	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3						actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AGTGCCCAGCGGGTTTGTTGT	0.527																																						ENST00000361042.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.e7+1		WAS protein family, member 3							40.0	39.0	39.0					13																	27254337		876	1991	2867	SO:0001627	intron_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27254337G>A	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.717-854G>A	13.37:g.27254337G>A						WASF3_ENST00000335327.5_Intron	p.G236_splice			Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	7	931	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	239					O94974|Q86VQ2	Splice_Site	SNP	ENST00000335327.5	37	c.707_splice	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	G	4.682	0.126794	0.08931	.	.	ENSG00000132970	ENST00000361042	T	0.38887	1.11	5.46	5.46	0.80206	.	.	.	.	.	T	0.26882	0.0658	.	.	.	0.22701	N	0.998834	B	0.06786	0.001	B	0.01281	0.0	T	0.04708	-1.0932	8	0.08837	T	0.75	.	17.4839	0.87682	0.0:0.0:1.0:0.0	.	236	Q86VQ2	.	R	236	ENSP00000354325:G236R	ENSP00000354325:G236R	G	+	1	0	WASF3	26152337	1.000000	0.71417	0.974000	0.42286	0.040000	0.13550	5.122000	0.64697	2.564000	0.86499	0.650000	0.86243	GGG		0.527	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			3	34	0	0	0	1	0	3	34				
SMG1	23049	broad.mit.edu	37	16	18856866	18856866	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:18856866G>C	ENST00000446231.2	-	39	6516	c.6104C>G	c.(6103-6105)cCt>cGt	p.P2035R	SMG1_ENST00000389467.3_Missense_Mutation_p.P2035R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2035					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTTTCATGAGGTGTTTCTGC	0.458																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(6103-6105)cCt>cGt		SMG1 phosphatidylinositol 3-kinase-related kinase							115.0	106.0	109.0					16																	18856866		1877	4107	5984	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18856866G>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.6104C>G	16.37:g.18856866G>C	ENSP00000402515:p.Pro2035Arg					SMG1_ENST00000389467.3_Missense_Mutation_p.P2035R	p.P2035R			Q96Q15	SMG1_HUMAN			39	6516	-			2035					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.6104C>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057060	0.76074	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01209	5.17;5.17	5.98	5.98	0.97165	Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.08403	0.0209	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	T	0.00482	-1.1713	10	0.62326	D	0.03	.	20.4434	0.99119	0.0:0.0:1.0:0.0	.	1895;2035	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	R	2035	ENSP00000402515:P2035R;ENSP00000374118:P2035R	ENSP00000374118:P2035R	P	-	2	0	SMG1	18764367	1.000000	0.71417	0.800000	0.32199	0.995000	0.86356	9.827000	0.99397	2.838000	0.97847	0.655000	0.94253	CCT		0.458	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		5	65	0	0	0	1	0	5	65				
ALMS1	7840	broad.mit.edu	37	2	73678013	73678013	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:73678013G>T	ENST00000264448.6	+	8	4467	c.4356G>T	c.(4354-4356)ttG>ttT	p.L1452F	ALMS1_ENST00000377715.1_Missense_Mutation_p.L1452F|ALMS1_ENST00000409009.1_Missense_Mutation_p.L1410F	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1452	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAGAGGCTTTGGAAGTTTCAG	0.473																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(4354-4356)ttG>ttT		Alstrom syndrome 1							115.0	115.0	115.0					2																	73678013		1884	4117	6001	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73678013G>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.4356G>T	2.37:g.73678013G>T	ENSP00000264448:p.Leu1452Phe					ALMS1_ENST00000409009.1_Missense_Mutation_p.L1410F|ALMS1_ENST00000377715.1_Missense_Mutation_p.L1452F	p.L1452F	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	4467	+			1452			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.4356G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	8.023	0.760014	0.15846	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.19394	3.06;3.06;2.15	4.18	2.37	0.29283	.	0.249668	0.20862	N	0.084332	T	0.32285	0.0824	L	0.55990	1.75	0.09310	N	1	D;B;B	0.69078	0.997;0.073;0.073	D;B;B	0.67103	0.949;0.064;0.064	T	0.04946	-1.0916	10	0.37606	T	0.19	.	5.5433	0.17049	0.1019:0.0:0.7049:0.1931	.	1452;1410;1452	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	F	1410;1452;1452	ENSP00000386627:L1410F;ENSP00000264448:L1452F;ENSP00000366944:L1452F	ENSP00000264448:L1452F	L	+	3	2	ALMS1	73531521	0.000000	0.05858	0.011000	0.14972	0.020000	0.10135	-0.055000	0.11807	0.687000	0.31509	-0.216000	0.12614	TTG		0.473	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		78	111	1	0	5.02462e-34	1	6.26549e-34	78	111				
PKN2	5586	broad.mit.edu	37	1	89272996	89272996	+	Splice_Site	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:89272996G>C	ENST00000370521.3	+	13	2163	c.1804G>C	c.(1804-1806)Gat>Cat	p.D602H	PKN2_ENST00000370513.5_Splice_Site_p.D554H|PKN2_ENST00000544045.1_Splice_Site_p.D276H|PKN2_ENST00000370505.3_Splice_Site_p.D445H	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	602					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TATTTTACAGGATTCAGAGAC	0.294																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.e13-1		protein kinase N2							71.0	69.0	69.0					1																	89272996		1801	4062	5863	SO:0001630	splice_region_variant	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89272996G>C	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1804-1G>C	1.37:g.89272996G>C						PKN2_ENST00000544045.1_Splice_Site_p.D276_splice|PKN2_ENST00000370513.5_Splice_Site_p.D554_splice|PKN2_ENST00000370505.3_Splice_Site_p.D445_splice	p.D602_splice	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	13	2163	+		Lung NSC(277;0.123)	602					B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Splice_Site	SNP	ENST00000370521.3	37	c.1803_splice	CCDS714.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737241	0.69304	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T	0.68903	-0.36;-0.36;-0.35;-0.36	5.97	5.97	0.96955	.	0.142200	0.31370	U	0.007762	T	0.42404	0.1201	N	0.08118	0	0.80722	D	1	P;P;P	0.50272	0.82;0.933;0.833	P;P;B	0.45406	0.479;0.471;0.293	T	0.42916	-0.9423	9	.	.	.	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	586;554;602	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	H	602;445;554;276	ENSP00000359552:D602H;ENSP00000359536:D445H;ENSP00000359544:D554H;ENSP00000439643:D276H	.	D	+	1	0	PKN2	89045584	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.998000	0.70653	2.833000	0.97629	0.585000	0.79938	GAT		0.294	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256	Missense_Mutation	5	59	0	0	0	1	0	5	59				
SLC35G2	80723	broad.mit.edu	37	3	136573746	136573746	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:136573746G>C	ENST00000446465.2	+	2	1072	c.444G>C	c.(442-444)gtG>gtC	p.V148V	RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.V148V	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		TCTTATCTGTGTTAGTTGTGT	0.403																																						ENST00000446465.2																			0											c.(442-444)gtG>gtC		solute carrier family 35, member G2							209.0	193.0	198.0					3																	136573746		2203	4300	6503	SO:0001819	synonymous_variant	80723					Golgi apparatus|integral to membrane		g.chr3:136573746G>C	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.444G>C	3.37:g.136573746G>C						RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.V148V|RP11-85F14.5_ENST00000461864.1_RNA	p.V148V	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN			2	1072	+			148			DUF6 1.			Silent	SNP	ENST00000446465.2	37	c.444G>C	CCDS3091.1																																																																																				0.403	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		24	160	0	0	0	1	0	24	160				
PCDH10	57575	broad.mit.edu	37	4	134072817	134072817	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:134072817C>G	ENST00000264360.5	+	1	2348	c.1522C>G	c.(1522-1524)Cag>Gag	p.Q508E	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	508	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GTGCCAGATCCAGGGCATGAG	0.572																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1522-1524)Cag>Gag		protocadherin 10							66.0	68.0	68.0					4																	134072817		2203	4299	6502	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072817C>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1522C>G	4.37:g.134072817C>G	ENSP00000264360:p.Gln508Glu						p.Q508E	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2348	+			508			Cadherin 5.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1522C>G	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066883	0.36470	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.51325	0.71	4.51	4.51	0.55191	Cadherin (4);Cadherin-like (1);	0.000000	0.40818	N	0.001017	T	0.56321	0.1977	L	0.31294	0.92	0.52099	D	0.999948	D;B	0.60575	0.988;0.115	D;B	0.76071	0.987;0.173	T	0.54622	-0.8266	10	0.35671	T	0.21	.	16.1677	0.81782	0.0:1.0:0.0:0.0	.	508;508	Q9P2E7;Q96SF0	PCD10_HUMAN;.	E	508	ENSP00000264360:Q508E	ENSP00000264360:Q508E	Q	+	1	0	PCDH10	134292267	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.812000	0.69194	2.329000	0.79093	0.655000	0.94253	CAG		0.572	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		43	63	0	0	0	1	0	43	63				
C2CD2	25966	broad.mit.edu	37	21	43327243	43327243	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:43327243G>C	ENST00000380486.3	-	10	1417	c.1176C>G	c.(1174-1176)tcC>tcG	p.S392S	C2CD2_ENST00000329623.7_Silent_p.S237S	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	392						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GGATGGGCCAGGATTTCAATT	0.512																																						ENST00000380486.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						c.(1174-1176)tcC>tcG		C2 calcium-dependent domain containing 2							65.0	61.0	62.0					21																	43327243		2203	4300	6503	SO:0001819	synonymous_variant	25966					cytosol|extracellular region|nucleus		g.chr21:43327243G>C	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1176C>G	21.37:g.43327243G>C						C2CD2_ENST00000329623.7_Silent_p.S237S	p.S392S	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN			10	1417	-			392					Q5R2V7|Q6AHX8|Q9NSE6	Silent	SNP	ENST00000380486.3	37	c.1176C>G	CCDS42933.1																																																																																				0.512	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		4	45	0	0	0	1	0	4	45				
YIPF5	81555	broad.mit.edu	37	5	143543740	143543740	+	Missense_Mutation	SNP	T	T	A	rs201180255		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:143543740T>A	ENST00000274496.5	-	4	498	c.364A>T	c.(364-366)Atg>Ttg	p.M122L	YIPF5_ENST00000513112.1_Missense_Mutation_p.M68L|YIPF5_ENST00000448443.2_Missense_Mutation_p.M122L	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	122					protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum exit site (GO:0070971)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GTTTCATTCATGATGCTGCCA	0.368																																						ENST00000274496.5																			0				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9						c.(364-366)Atg>Ttg		Yip1 domain family, member 5							170.0	157.0	161.0					5																	143543740		2203	4300	6503	SO:0001583	missense	81555				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane		g.chr5:143543740T>A	AF318329	CCDS4279.1, CCDS64277.1	5q31.3	2009-01-12			ENSG00000145817	ENSG00000145817		"""Yip1 domain family"""	24877	protein-coding gene	gene with protein product		611483				12975309, 18718466	Standard	NM_001024947		Approved	SMAP-5, FinGER5	uc003lnl.5	Q969M3	OTTHUMG00000129679	ENST00000274496.5:c.364A>T	5.37:g.143543740T>A	ENSP00000274496:p.Met122Leu					YIPF5_ENST00000513112.1_Missense_Mutation_p.M68L|YIPF5_ENST00000448443.2_Missense_Mutation_p.M122L	p.M122L	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		4	498	-		all_hematologic(541;0.118)	122					D3DQF5|Q4VSN6|Q53EX4|Q8NHE5|Q9H338|Q9H3U4	Missense_Mutation	SNP	ENST00000274496.5	37	c.364A>T	CCDS4279.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.420625	0.42918	.	.	ENSG00000145817	ENST00000274496;ENST00000377986;ENST00000448443;ENST00000513112;ENST00000519064;ENST00000522203;ENST00000536767	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	6.03	6.03	0.97812	Yip1 domain (1);	0.000000	0.85682	D	0.000000	T	0.30355	0.0762	L	0.45051	1.395	0.80722	D	1	B	0.10296	0.003	B	0.20184	0.028	T	0.16276	-1.0408	10	0.02654	T	1	-15.8029	16.5582	0.84512	0.0:0.0:0.0:1.0	.	122	Q969M3	YIPF5_HUMAN	L	122;122;122;68;68;68;122	ENSP00000274496:M122L;ENSP00000397704:M122L;ENSP00000425422:M68L;ENSP00000429777:M68L	ENSP00000274496:M122L	M	-	1	0	YIPF5	143523933	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.215000	0.72206	2.308000	0.77769	0.533000	0.62120	ATG		0.368	YIPF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251882.1	NM_030799		24	37	0	0	0	1	0	24	37				
AHNAK	79026	broad.mit.edu	37	11	62299719	62299719	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:62299719C>G	ENST00000378024.4	-	5	2444	c.2170G>C	c.(2170-2172)Gga>Cga	p.G724R	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	724					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.G724*(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGAGTTCTCCTTCCAGCTTT	0.463																																						ENST00000378024.4																			1	Substitution - Nonsense(1)	p.G724*(1)	lung(1)	NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(2170-2172)Gga>Cga		AHNAK nucleoprotein							269.0	237.0	248.0					11																	62299719		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62299719C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2170G>C	11.37:g.62299719C>G	ENSP00000367263:p.Gly724Arg					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.G724R	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	2444	-		Melanoma(852;0.155)	724					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.2170G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464312	0.63513	.	.	ENSG00000124942	ENST00000378024	T	0.06142	3.34	5.42	5.42	0.78866	.	.	.	.	.	T	0.38480	0.1042	H	0.96633	3.855	0.36726	D	0.881421	D	0.89917	1.0	D	0.97110	1.0	T	0.60058	-0.7337	9	0.18276	T	0.48	-6.7553	18.8312	0.92141	0.0:1.0:0.0:0.0	.	724	Q09666	AHNK_HUMAN	R	724	ENSP00000367263:G724R	ENSP00000367263:G724R	G	-	1	0	AHNAK	62056295	0.140000	0.22579	1.000000	0.80357	0.850000	0.48378	1.760000	0.38430	2.550000	0.86006	0.455000	0.32223	GGA		0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		6	249	0	0	0	1	0	6	249				
LMX1A	4009	broad.mit.edu	37	1	165218793	165218793	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:165218793G>T	ENST00000342310.3	-	4	730	c.348C>A	c.(346-348)caC>caA	p.H116Q	LMX1A_ENST00000367893.4_Missense_Mutation_p.H116Q|LMX1A_ENST00000294816.2_Missense_Mutation_p.H116Q	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	116	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AGCAGCTCAGGTGGTATACAC	0.552																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(346-348)caC>caA		LIM homeobox transcription factor 1, alpha							52.0	51.0	51.0					1																	165218793		2203	4300	6503	SO:0001583	missense	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165218793G>T	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.348C>A	1.37:g.165218793G>T	ENSP00000340226:p.His116Gln					LMX1A_ENST00000367893.4_Missense_Mutation_p.H116Q|LMX1A_ENST00000294816.2_Missense_Mutation_p.H116Q	p.H116Q	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			4	730	-	all_hematologic(923;0.248)		116			LIM zinc-binding 2.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	37	c.348C>A	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962954	0.74016	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.96334	-3.98;-3.98;-3.98	4.61	3.67	0.42095	Zinc finger, LIM-type (5);	0.114365	0.64402	D	0.000016	D	0.98972	0.9650	H	0.99650	4.68	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	D	0.98374	1.0555	9	0.87932	D	0	.	12.0676	0.53596	0.0877:0.0:0.9123:0.0	.	116	Q8TE12	LMX1A_HUMAN	Q	116	ENSP00000340226:H116Q;ENSP00000294816:H116Q;ENSP00000356868:H116Q	ENSP00000294816:H116Q	H	-	3	2	LMX1A	163485417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.113000	0.57851	2.395000	0.81488	0.585000	0.79938	CAC		0.552	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		21	26	1	0	1.55795e-14	1	1.81045e-14	21	26				
PCDHGB7	56099	broad.mit.edu	37	5	140797444	140797444	+	Silent	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140797444G>T	ENST00000398594.2	+	1	18	c.18G>T	c.(16-18)gcG>gcT	p.A6A	PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	6					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGCGCGCAGAggcgcc	0.627											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(16-18)gcG>gcT									11.0	14.0	13.0					5																	140797444		1781	3953	5734	SO:0001819	synonymous_variant	56099							g.chr5:140797444G>T	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.18G>T	5.37:g.140797444G>T			OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	p.A6A	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	18	+								Q9UN63	Silent	SNP	ENST00000398594.2	37	c.18G>T	CCDS47293.1																																																																																				0.627	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		3	5	1	0	0.004672	1	0.00479917	3	5				
FBXO34	55030	broad.mit.edu	37	14	55818712	55818712	+	Missense_Mutation	SNP	C	C	T	rs368994907		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:55818712C>T	ENST00000313833.4	+	2	1849	c.1604C>T	c.(1603-1605)gCc>gTc	p.A535V	FBXO34_ENST00000440021.1_Missense_Mutation_p.A535V	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	535										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GTACTGCCAGCCTCTTCTGTG	0.502																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(1603-1605)gCc>gTc		F-box protein 34		C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	130.0	126.0	128.0		1604,1604	-2.1	0.0	14		128	0,8600		0,0,4300	no	missense,missense	FBXO34	NM_152231.1,NM_017943.3	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	535/712,535/712	55818712	1,13005	2203	4300	6503	SO:0001583	missense	55030							g.chr14:55818712C>T	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1604C>T	14.37:g.55818712C>T	ENSP00000313159:p.Ala535Val					FBXO34_ENST00000440021.1_Missense_Mutation_p.A535V	p.A535V	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	1849	+			535					Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	c.1604C>T	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.745918	0.00087	2.27E-4	0.0	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.17054	2.3;2.3	5.43	-2.06	0.07298	.	0.977901	0.08351	N	0.959186	T	0.07908	0.0198	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.41538	-0.9503	10	0.09084	T	0.74	-2.4464	1.346	0.02163	0.2415:0.1852:0.119:0.4542	.	535	Q9NWN3	FBX34_HUMAN	V	535	ENSP00000313159:A535V;ENSP00000394117:A535V	ENSP00000313159:A535V	A	+	2	0	FBXO34	54888465	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.225000	0.09151	-0.059000	0.13154	-0.122000	0.15005	GCC		0.502	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			61	95	0	0	0	1	0	61	95				
RSRC1	51319	broad.mit.edu	37	3	157921034	157921034	+	Splice_Site	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:157921034G>T	ENST00000295930.3	+	4	656	c.494G>T	c.(493-495)gGg>gTg	p.G165V	RSRC1_ENST00000475278.2_Splice_Site_p.G165V|RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000480820.1_Splice_Site_p.G165V|RSRC1_ENST00000312179.6_Intron	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	165					mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			ATCAAACGTGGGTAAGTTGGA	0.408																																						ENST00000295930.3																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18						c.e4+1		arginine/serine-rich coiled-coil 1							78.0	86.0	84.0					3																	157921034		2203	4300	6503	SO:0001630	splice_region_variant	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:157921034G>T	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.494+1G>T	3.37:g.157921034G>T						RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000480820.1_Splice_Site_p.G165_splice|RSRC1_ENST00000475278.2_Splice_Site_p.G165_splice|RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron	p.G165_splice	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		4	656	+			165					A8K2R9|Q96QK2|Q9NZE5	Splice_Site	SNP	ENST00000295930.3	37	c.494_splice	CCDS3181.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.36|19.36	3.811960|3.811960	0.70797|0.70797	.|.	.|.	ENSG00000174891|ENSG00000174891	ENST00000480820;ENST00000295930;ENST00000471994;ENST00000475278;ENST00000476899|ENST00000482822	.|.	.|.	.|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.279993|.	0.35585|.	N|.	0.003106|.	T|T	0.59998|0.59998	0.2235|0.2235	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	P|.	0.51933|.	0.949|.	P|.	0.51550|.	0.673|.	T|T	0.55560|0.55560	-0.8122|-0.8122	9|5	0.72032|.	D|.	0.01|.	.|.	17.5029|17.5029	0.87737|0.87737	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	165|.	Q96IZ7|.	RSRC1_HUMAN|.	V|C	165|58	.|.	ENSP00000295930:G165V|.	G|W	+|+	2|3	0|0	RSRC1|RSRC1	159403728|159403728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	6.545000|6.545000	0.73883|0.73883	2.502000|2.502000	0.84385|0.84385	0.591000|0.591000	0.81541|0.81541	GGG|TGG		0.408	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625	Missense_Mutation	6	5	1	0	1	1	1	6	5				
WDR25	79446	broad.mit.edu	37	14	100847552	100847552	+	Missense_Mutation	SNP	G	G	C	rs139361032		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:100847552G>C	ENST00000335290.6	+	2	517	c.291G>C	c.(289-291)caG>caC	p.Q97H	WDR25_ENST00000402312.3_Missense_Mutation_p.Q97H|WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000554175.1_Missense_Mutation_p.Q97H|WDR25_ENST00000554998.1_Missense_Mutation_p.Q97H	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	97										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				AGAGGCTACAGTGGCCCGGGA	0.592																																						ENST00000335290.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20						c.(289-291)caG>caC		WD repeat domain 25							36.0	39.0	38.0					14																	100847552		2203	4300	6503	SO:0001583	missense	79446							g.chr14:100847552G>C	BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"""WD repeat domain containing"""	21064	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 67"""	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.291G>C	14.37:g.100847552G>C	ENSP00000334148:p.Gln97His					WDR25_ENST00000402312.3_Missense_Mutation_p.Q97H|WDR25_ENST00000554998.1_Missense_Mutation_p.Q97H|WDR25_ENST00000554175.1_Missense_Mutation_p.97_97insH	p.Q97H	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN			2	517	+		Melanoma(154;0.212)	97					A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	ENST00000335290.6	37	c.291G>C	CCDS32157.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982618	0.53827	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000554175	T;T;T;T	0.63255	-0.03;-0.03;-0.03;1.92	5.0	2.18	0.27775	.	0.598323	0.15396	N	0.264580	T	0.60051	0.2239	L	0.53249	1.67	0.58432	D	0.999999	D	0.56746	0.977	P	0.51487	0.671	T	0.53933	-0.8368	10	0.33141	T	0.24	-4.3994	5.137	0.14939	0.1844:0.1697:0.6459:0.0	.	97	Q64LD2	WDR25_HUMAN	H	97	ENSP00000450661:Q97H;ENSP00000385540:Q97H;ENSP00000334148:Q97H;ENSP00000450727:Q97H	ENSP00000334148:Q97H	Q	+	3	2	WDR25	99917305	0.294000	0.24380	0.844000	0.33320	0.796000	0.44982	0.451000	0.21779	0.297000	0.22615	0.655000	0.94253	CAG		0.592	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		11	65	0	0	0	1	0	11	65				
CLEC2D	29121	broad.mit.edu	37	12	9847437	9847437	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:9847437G>C	ENST00000290855.6	+	5	565	c.543G>C	c.(541-543)aaG>aaC	p.K181N	CLEC2D_ENST00000261340.7_3'UTR|CLEC2D_ENST00000261339.6_Missense_Mutation_p.K144N	NM_013269.5	NP_037401.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	181	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						CAGAGAGGAAGTGGATTTGTT	0.418																																						ENST00000290855.6																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						c.(541-543)aaG>aaC		C-type lectin domain family 2, member D							124.0	111.0	115.0					12																	9847437		2203	4300	6503	SO:0001583	missense	29121				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity	g.chr12:9847437G>C	AF133299	CCDS8602.1, CCDS31741.1, CCDS55800.1, CCDS55801.1, CCDS55802.1	12p13.31	2011-05-24	2005-09-29		ENSG00000069493	ENSG00000069493		"""C-type lectin domain containing"""	14351	protein-coding gene	gene with protein product	"""C-type lectin related f"", ""lectin-like transcript 1"""	605659	"""C-type lectin superfamily 2, member D"""				Standard	NM_013269		Approved	LLT1, CLAX, OCIL	uc001qwf.3	Q9UHP7	OTTHUMG00000168369	ENST00000290855.6:c.543G>C	12.37:g.9847437G>C	ENSP00000290855:p.Lys181Asn					CLEC2D_ENST00000261340.7_3'UTR|CLEC2D_ENST00000261339.6_Missense_Mutation_p.K144N	p.K181N	NM_013269.5	NP_037401.1	Q9UHP7	CLC2D_HUMAN			5	565	+			181			C-type lectin.		D6CI39|D6CI40|D6CI41|Q6YID5|Q8WUP7|Q9HD37|Q9HD38	Missense_Mutation	SNP	ENST00000290855.6	37	c.543G>C	CCDS8602.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396526	0.25205	.	.	ENSG00000069493	ENST00000290855;ENST00000261339	T;T	0.18016	2.24;2.24	3.74	-1.4	0.08968	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	.	.	.	.	T	0.14356	0.0347	N	0.20610	0.595	0.20489	N	0.999897	P	0.49696	0.927	P	0.51742	0.678	T	0.26326	-1.0106	8	.	.	.	.	7.1975	0.25862	0.595:0.0:0.405:0.0	.	181	Q9UHP7	CLC2D_HUMAN	N	181;144	ENSP00000290855:K181N;ENSP00000261339:K144N	.	K	+	3	2	CLEC2D	9738704	0.000000	0.05858	0.846000	0.33378	0.439000	0.31926	-1.573000	0.02134	-0.196000	0.10366	-0.986000	0.02555	AAG		0.418	CLEC2D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000335424.2	NM_013269		10	45	0	0	0	1	0	10	45				
ENTPD5	957	broad.mit.edu	37	14	74454625	74454625	+	Silent	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:74454625G>T	ENST00000334696.6	-	4	500	c.181C>A	c.(181-183)Cga>Aga	p.R61R	ENTPD5_ENST00000557325.1_Silent_p.R61R|ENTPD5_ENST00000556242.1_Silent_p.R61R|ENTPD5_ENST00000554664.1_5'Flank	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	61					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		ACATGAATTCGAGTTCCAGTG	0.463																																						ENST00000334696.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(181-183)Cga>Aga		ectonucleoside triphosphate diphosphohydrolase 5							108.0	98.0	101.0					14																	74454625		2203	4300	6503	SO:0001819	synonymous_variant	957				'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity	g.chr14:74454625G>T	AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.181C>A	14.37:g.74454625G>T						ENTPD5_ENST00000556242.1_Silent_p.R61R|ENTPD5_ENST00000557325.1_Silent_p.R61R	p.R61R	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)	4	500	-			61					A1L4C5|Q96RX0	Silent	SNP	ENST00000334696.6	37	c.181C>A	CCDS9825.1																																																																																				0.463	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249		3	24	1	0	0.004672	1	0.00479917	3	24				
PCDHB18	54660	broad.mit.edu	37	5	140616255	140616255	+	RNA	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140616255C>T	ENST00000526308.1	+	0	2318					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CTGTTCGTGGCGGTGCGGCTG	0.687																																						ENST00000526308.1																			0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														54660							g.chr5:140616255C>T	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140616255C>T								NR_001281.1						0	2318	+								B3KTF8	RNA	SNP	ENST00000526308.1	37																																																																																						0.687	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			51	115	0	0	0	1	0	51	115				
SYNE2	23224	broad.mit.edu	37	14	64518682	64518682	+	Missense_Mutation	SNP	G	G	A	rs374785983		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:64518682G>A	ENST00000344113.4	+	48	8263	c.8051G>A	c.(8050-8052)gGg>gAg	p.G2684E	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.G2684E|SYNE2_ENST00000554584.1_Missense_Mutation_p.G2717E	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2684					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTTTTAAAGGGGCAAGCTGAA	0.428																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(8050-8052)gGg>gAg		spectrin repeat containing, nuclear envelope 2		G	GLU/GLY,GLU/GLY	1,3781		0,1,1890	83.0	83.0	83.0		8051,8051	1.7	0.0	14		83	0,8230		0,0,4115	no	missense,missense	SYNE2	NM_015180.4,NM_182914.2	98,98	0,1,6005	AA,AG,GG		0.0,0.0264,0.0083	possibly-damaging,possibly-damaging	2684/6886,2684/6908	64518682	1,12011	1891	4115	6006	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64518682G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8051G>A	14.37:g.64518682G>A	ENSP00000341781:p.Gly2684Glu					SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.G2684E|SYNE2_ENST00000554584.1_Missense_Mutation_p.G2717E	p.G2684E	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	8281	+			2684					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.8051G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	4.549	0.101994	0.08731	2.64E-4	0.0	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.55588	0.89;0.89;0.51	5.68	1.7	0.24286	.	0.614683	0.15385	N	0.265137	T	0.31199	0.0789	L	0.27053	0.805	0.09310	N	0.999996	P;P	0.38504	0.501;0.634	B;B	0.33521	0.08;0.165	T	0.22941	-1.0202	10	0.02654	T	1	.	11.8801	0.52571	0.0:0.3727:0.4984:0.1289	.	2684;2684	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	E	2684;2684;2717;2717	ENSP00000350719:G2684E;ENSP00000341781:G2684E;ENSP00000452570:G2717E	ENSP00000261678:G2717E	G	+	2	0	SYNE2	63588435	0.086000	0.21541	0.000000	0.03702	0.020000	0.10135	2.287000	0.43505	0.038000	0.15604	-0.309000	0.09137	GGG		0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		46	74	0	0	0	1	0	46	74				
ZNF716	441234	broad.mit.edu	37	7	57509997	57509997	+	Start_Codon_SNP	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:57509997G>C	ENST00000420713.1	+	1	115	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	1					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)|kidney(1)|lung(20)|ovary(2)	24						GCAGATTTATGGCTAAAAGAC	0.587																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(1-3)atG>atC		zinc finger protein 716							50.0	43.0	45.0					7																	57509997		692	1591	2283	SO:0001582	initiator_codon_variant	441234							g.chr7:57509997G>C	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.3G>C	7.37:g.57509997G>C	ENSP00000394248:p.Met1Ile						p.M1I	NM_001159279.1	NP_001152751.1					1	115	+									Translation_Start_Site	SNP	ENST00000420713.1	37	c.3G>C	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	G	4.033	0.003699	0.07866	.	.	ENSG00000182111	ENST00000420713	T	0.04603	3.59	0.378	-0.652	0.11450	.	.	.	.	.	T	0.05960	0.0155	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.36792	-0.9733	5	0.66056	D	0.02	.	.	.	.	.	.	.	.	I	1	ENSP00000394248:M1I	ENSP00000394248:M1I	M	+	3	0	ZNF716	57513939	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.516000	0.22817	-0.408000	0.07565	-0.396000	0.06452	ATG		0.587	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279	Missense_Mutation	17	27	0	0	0	1	0	17	27				
FAM47A	158724	broad.mit.edu	37	X	34150316	34150316	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:34150316G>C	ENST00000346193.3	-	1	131	c.80C>G	c.(79-81)tCc>tGc	p.S27C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	27										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAAGCACTTGGAAGGCCGTTT	0.617																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(79-81)tCc>tGc		family with sequence similarity 47, member A							52.0	52.0	52.0					X																	34150316		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34150316G>C	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.80C>G	X.37:g.34150316G>C	ENSP00000345029:p.Ser27Cys						p.S27C	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	131	-			27					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.80C>G	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631360	0.28978	.	.	ENSG00000185448	ENST00000346193	T	0.20332	2.08	1.17	1.17	0.20885	.	.	.	.	.	T	0.34221	0.0890	M	0.82056	2.57	0.09310	N	1	P	0.45428	0.858	P	0.51974	0.686	T	0.13019	-1.0525	9	0.56958	D	0.05	.	5.3637	0.16101	0.0:0.0:1.0:0.0	.	27	Q5JRC9	FA47A_HUMAN	C	27	ENSP00000345029:S27C	ENSP00000345029:S27C	S	-	2	0	FAM47A	34060237	0.410000	0.25376	0.042000	0.18584	0.053000	0.15095	1.335000	0.33839	0.880000	0.35969	0.544000	0.68410	TCC		0.617	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		4	97	0	0	0	1	0	4	97				
WFDC2	10406	broad.mit.edu	37	20	44108589	44108589	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:44108589G>C	ENST00000372676.3	+	3	307	c.231G>C	c.(229-231)gaG>gaC	p.E77D	WFDC2_ENST00000339946.3_Missense_Mutation_p.E29D|WFDC2_ENST00000488143.1_3'UTR|WFDC2_ENST00000342873.3_Missense_Mutation_p.E26D|AL031663.1_ENST00000599747.1_5'Flank	NM_006103.3	NP_006094.3	Q14508	WFDC2_HUMAN	WAP four-disulfide core domain 2	77	WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase inhibitor activity (GO:0019828)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(1)	1		Myeloproliferative disorder(115;0.0122)				CAGATAAGGAGGGTTCCTGCC	0.577																																						ENST00000342873.3																			0				lung(1)	1						c.(76-78)gaG>gaC		WAP four-disulfide core domain 2							192.0	195.0	194.0					20																	44108589		2203	4300	6503	SO:0001583	missense	10406				proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr20:44108589G>C	X63187	CCDS35501.1	20q13.12	2013-01-21			ENSG00000101443	ENSG00000101443		"""WAP four-disulfide core domain containing"""	15939	protein-coding gene	gene with protein product	"""epididymal protein 4"""					1686187, 10570965	Standard	NM_006103		Approved	HE4, WAP5, dJ461P17.6, EDDM4	uc002xoo.3	Q14508	OTTHUMG00000032594	ENST00000372676.3:c.231G>C	20.37:g.44108589G>C	ENSP00000361761:p.Glu77Asp					WFDC2_ENST00000372676.3_Missense_Mutation_p.E77D|WFDC2_ENST00000339946.3_Missense_Mutation_p.E29D|WFDC2_ENST00000488143.1_3'UTR	p.E26D			Q14508	WFDC2_HUMAN			1	511	+		Myeloproliferative disorder(115;0.0122)	77					A2A2A5|A2A2A6|A6PVD5|Q6IB27|Q8WXV9|Q8WXW0|Q8WXW1|Q8WXW2|Q96KJ1	Missense_Mutation	SNP	ENST00000372676.3	37	c.78G>C	CCDS35501.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657234	0.29425	.	.	ENSG00000101443	ENST00000372676;ENST00000339946;ENST00000342873	T;T;T	0.71461	-0.57;-0.57;-0.57	5.26	-2.13	0.07144	Whey acidic protein, 4-disulphide core (5);	2.136620	0.01991	N	0.045553	T	0.57080	0.2029	N	0.21373	0.66	0.09310	N	1	B;B;P	0.39576	0.187;0.187;0.679	B;B;B	0.41135	0.051;0.051;0.348	T	0.45483	-0.9258	10	0.27785	T	0.31	0.9946	5.5903	0.17297	0.4308:0.1337:0.4355:0.0	.	26;29;77	Q14508-2;Q14508-3;Q14508	.;.;WFDC2_HUMAN	D	77;29;26	ENSP00000361761:E77D;ENSP00000340215:E29D;ENSP00000342890:E26D	ENSP00000340215:E29D	E	+	3	2	WFDC2	43542003	0.002000	0.14202	0.001000	0.08648	0.010000	0.07245	-0.491000	0.06474	-0.556000	0.06134	-0.150000	0.13652	GAG		0.577	WFDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079476.3			37	243	0	0	0	1	0	37	243				
UBC	7316	broad.mit.edu	37	12	125396269	125396269	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:125396269C>G	ENST00000538617.1	-	4	1225	c.909G>C	c.(907-909)ggG>ggC	p.G303G	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Silent_p.G607G|UBC_ENST00000339647.5_Silent_p.G683G|UBC_ENST00000536769.1_Silent_p.G683G			P0CG48	UBC_HUMAN	ubiquitin C	683	Ubiquitin-like 4. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTTAGACACCCCCCCTCAAGC	0.423																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2047-2049)ggG>ggC		ubiquitin C							68.0	69.0	69.0					12																	125396269		2203	4300	6503	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125396269C>G		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.909G>C	12.37:g.125396269C>G						UBC_ENST00000546120.1_Silent_p.G607G|UBC_ENST00000339647.5_Silent_p.G683G|UBC_ENST00000538617.1_Silent_p.G303G	p.G683G			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	3625	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		683			Ubiquitin-like 9.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37	c.2049G>C																																																																																					0.423	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		37	62	0	0	0	1	0	37	62				
NRROS	375387	broad.mit.edu	37	3	196388068	196388068	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:196388068C>T	ENST00000328557.4	+	3	1757	c.1554C>T	c.(1552-1554)ctC>ctT	p.L518L		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	518					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TCCTGTCTCTCAGGAACATGG	0.557																																						ENST00000328557.4																			0											c.(1552-1554)ctC>ctT		negative regulator of reactive oxygen species							114.0	111.0	112.0					3																	196388068		2203	4300	6503	SO:0001819	synonymous_variant	375387							g.chr3:196388068C>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1554C>T	3.37:g.196388068C>T							p.L518L	NM_198565.1	NP_940967.1					3	1757	+									Silent	SNP	ENST00000328557.4	37	c.1554C>T	CCDS3319.1																																																																																				0.557	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		19	128	0	0	0	1	0	19	128				
FUS	2521	broad.mit.edu	37	16	31202320	31202320	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:31202320G>C	ENST00000254108.7	+	14	1535	c.1430G>C	c.(1429-1431)gGa>gCa	p.G477A	FUS_ENST00000380244.3_Missense_Mutation_p.G476A|FUS_ENST00000568685.1_Missense_Mutation_p.G478A|FUS_ENST00000474990.1_3'UTR	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	477	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GGTGGCAGAGGAGGCTATGAT	0.632			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	ENST00000254108.7				Dom	yes		16	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""			"""M, L"""	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""		"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	0				breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22						c.(1429-1431)gGa>gCa		fused in sarcoma							56.0	68.0	64.0					16																	31202320		2196	4300	6496	SO:0001583	missense	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31202320G>C	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1430G>C	16.37:g.31202320G>C	ENSP00000254108:p.Gly477Ala					FUS_ENST00000568685.1_Missense_Mutation_p.G478A|FUS_ENST00000380244.3_Missense_Mutation_p.G476A|FUS_ENST00000474990.1_3'UTR	p.G477A	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	14	1535	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	477			Arg/Gly-rich.		Q9H4A8	Missense_Mutation	SNP	ENST00000254108.7	37	c.1430G>C	CCDS10707.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676427	0.88445	.	.	ENSG00000089280	ENST00000254108	D	0.89196	-2.48	5.45	4.49	0.54785	.	0.133192	0.49305	D	0.000152	D	0.87779	0.6263	L	0.60455	1.87	0.43793	D	0.996332	B;B;B;B;B	0.30914	0.199;0.199;0.3;0.199;0.199	B;B;B;B;B	0.35182	0.061;0.097;0.197;0.061;0.097	D	0.85964	0.1472	10	0.45353	T	0.12	-0.6817	14.5209	0.67849	0.0:0.0:0.8519:0.1481	.	477;477;476;251;477	Q8TBR3;Q6IBQ5;P35637-2;Q59H57;P35637	.;.;.;.;FUS_HUMAN	A	477	ENSP00000254108:G477A	ENSP00000254108:G477A	G	+	2	0	FUS	31109821	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.405000	0.97313	1.288000	0.44600	0.591000	0.81541	GGA		0.632	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		18	115	0	0	0	1	0	18	115				
TGFBI	7045	broad.mit.edu	37	5	135392397	135392397	+	Missense_Mutation	SNP	C	C	G	rs570927940		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:135392397C>G	ENST00000442011.2	+	12	1752	c.1591C>G	c.(1591-1593)Ctc>Gtc	p.L531V	TGFBI_ENST00000305126.8_Missense_Mutation_p.L531V|TGFBI_ENST00000508076.1_5'Flank	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	531	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GACGGAGACCCTCAACCGGGA	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		18509	0.0		0.0	False		,,,				2504	0.001					ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1591-1593)Ctc>Gtc		transforming growth factor, beta-induced, 68kDa							97.0	100.0	99.0					5																	135392397		1981	4171	6152	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135392397C>G	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1591C>G	5.37:g.135392397C>G	ENSP00000416330:p.Leu531Val					TGFBI_ENST00000305126.8_Missense_Mutation_p.L531V	p.L531V	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		12	1752	+			531			FAS1 4.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1591C>G	CCDS47266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.174897|4.174897	0.78564|0.78564	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126|ENST00000514554	D;D|.	0.95482|.	-3.72;-3.72|.	5.82|5.82	5.82|5.82	0.92795|0.92795	FAS1 domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79028|0.79028	0.4377|0.4377	M|M	0.89287|0.89287	3.02|3.02	0.80722|0.80722	D|D	1|1	P;P|.	0.46859|.	0.813;0.885|.	P;P|.	0.57468|.	0.77;0.821|.	T|T	0.81837|0.81837	-0.0749|-0.0749	10|5	0.87932|.	D|.	0|.	-15.5984|-15.5984	11.4477|11.4477	0.50134|0.50134	0.0:0.861:0.0:0.139|0.0:0.861:0.0:0.139	.|.	264;531|.	B9ZVW9;Q15582|.	.;BGH3_HUMAN|.	V|R	531;264;531|248	ENSP00000416330:L531V;ENSP00000306306:L531V|.	ENSP00000306306:L531V|.	L|P	+|+	1|2	0|0	TGFBI|TGFBI	135420296|135420296	0.367000|0.367000	0.25023|0.25023	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	0.759000|0.759000	0.26461|0.26461	2.761000|2.761000	0.94854|0.94854	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.502	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			4	46	0	0	0	1	0	4	46				
HECW2	57520	broad.mit.edu	37	2	197183283	197183283	+	Silent	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:197183283A>G	ENST00000260983.3	-	9	2513	c.2331T>C	c.(2329-2331)gcT>gcC	p.A777A	HECW2_ENST00000409111.1_Silent_p.A421A	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	777	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TACCTCCAGTAGCGCCCTCCT	0.587																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(2329-2331)gcT>gcC		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							63.0	63.0	63.0					2																	197183283		2203	4300	6503	SO:0001819	synonymous_variant	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197183283A>G	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2331T>C	2.37:g.197183283A>G						HECW2_ENST00000409111.1_Silent_p.A421A	p.A777A	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			9	2513	-			777			Interaction with TP73.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	c.2331T>C	CCDS33354.1																																																																																				0.587	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		26	38	0	0	0	1	0	26	38				
THSD7A	221981	broad.mit.edu	37	7	11441499	11441499	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:11441499G>A	ENST00000423059.4	-	23	4585	c.4334C>T	c.(4333-4335)tCc>tTc	p.S1445F	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1445	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CACCGGTCTGGATCTGACCTG	0.453										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(4333-4335)tCc>tTc		thrombospondin, type I, domain containing 7A							115.0	112.0	113.0					7																	11441499		1926	4135	6061	SO:0001583	missense	221981					integral to membrane		g.chr7:11441499G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4334C>T	7.37:g.11441499G>A	ENSP00000406482:p.Ser1445Phe	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.S1445F	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	23	4585	-			1445			TSP type-1 15.			Missense_Mutation	SNP	ENST00000423059.4	37	c.4334C>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840446	0.91197	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.19250	2.16	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.48314	0.1493	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23619	-1.0183	10	0.25106	T	0.35	.	19.6834	0.95972	0.0:0.0:1.0:0.0	.	1445	Q9UPZ6	THS7A_HUMAN	F	1445	ENSP00000406482:S1445F	ENSP00000262042:S1445F	S	-	2	0	THSD7A	11408024	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.604000	0.82830	2.657000	0.90304	0.561000	0.74099	TCC		0.453	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		11	64	0	0	0	1	0	11	64				
AIM1	202	broad.mit.edu	37	6	106975295	106975295	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:106975295G>C	ENST00000369066.3	+	5	3791	c.3304G>C	c.(3304-3306)Gca>Cca	p.A1102P		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GCACGAAGAAGCAGAGTCTGA	0.413																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(3304-3306)Gca>Cca		absent in melanoma 1							248.0	237.0	241.0					6																	106975295		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106975295G>C	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3304G>C	6.37:g.106975295G>C	ENSP00000358062:p.Ala1102Pro						p.A1102P	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	5	3791	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1102			Beta/gamma crystallin 'Greek key' 2.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.3304G>C	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	2.621	-0.288515	0.05605	.	.	ENSG00000112297	ENST00000369066	T	0.71817	-0.6	5.29	1.48	0.22813	Beta/gamma crystallin (2);Gamma-crystallin-related (1);	1.174100	0.05789	N	0.610073	T	0.31009	0.0783	N	0.25144	0.715	0.18873	N	0.999989	B	0.02656	0.0	B	0.04013	0.001	T	0.12477	-1.0546	10	0.27082	T	0.32	.	4.8493	0.13530	0.226:0.0:0.4614:0.3126	.	1102	Q9Y4K1	AIM1_HUMAN	P	1102	ENSP00000358062:A1102P	ENSP00000358062:A1102P	A	+	1	0	AIM1	107081988	0.007000	0.16637	0.269000	0.24586	0.079000	0.17450	-0.019000	0.12546	0.317000	0.23160	-0.158000	0.13435	GCA		0.413	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			33	201	0	0	0	1	0	33	201				
HOXB13	10481	broad.mit.edu	37	17	46805567	46805567	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:46805567T>G	ENST00000290295.7	-	1	973	c.389A>C	c.(388-390)tAt>tCt	p.Y130S	PRAC2_ENST00000422730.2_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	130					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						ATATCCCGGATAGAAGGCAAA	0.642																																						ENST00000290295.7																			0				endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						c.(388-390)tAt>tCt		homeobox B13							89.0	99.0	96.0					17																	46805567		2203	4300	6503	SO:0001583	missense	10481				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46805567T>G	U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"""Homeoboxes / ANTP class : HOXL subclass"""	5112	protein-coding gene	gene with protein product		604607	"""homeo box B13"""			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.389A>C	17.37:g.46805567T>G	ENSP00000290295:p.Tyr130Ser						p.Y130S	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN			1	973	-			130					B2R878|Q96QM4|Q99810	Missense_Mutation	SNP	ENST00000290295.7	37	c.389A>C	CCDS11536.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.144603	0.77888	.	.	ENSG00000159184	ENST00000290295	D	0.92099	-2.97	4.69	4.69	0.59074	.	0.068451	0.64402	D	0.000009	D	0.95862	0.8653	M	0.83223	2.63	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	D	0.96345	0.9254	10	0.87932	D	0	.	13.1333	0.59395	0.0:0.0:0.0:1.0	.	130	Q92826	HXB13_HUMAN	S	130	ENSP00000290295:Y130S	ENSP00000290295:Y130S	Y	-	2	0	HOXB13	44160566	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.525000	0.81892	1.974000	0.57490	0.379000	0.24179	TAT		0.642	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3	NM_006361		81	112	0	0	0	1	0	81	112				
CLIC2	1193	broad.mit.edu	37	X	154528136	154528136	+	Silent	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:154528136T>C	ENST00000369449.2	-	3	473	c.255A>G	c.(253-255)aaA>aaG	p.K85K	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	85	N-terminal.|Required for insertion into the membrane. {ECO:0000250}.				chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTCCTCAATTTTAATGAAGT	0.373																																					Melanoma(108;581 1592 2289 21669 28822)	ENST00000369449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18						c.(253-255)aaA>aaG		chloride intracellular channel 2							92.0	89.0	90.0					X																	154528136		2203	4300	6503	SO:0001819	synonymous_variant	1193				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity	g.chrX:154528136T>C	AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"""Ion channels / Chloride channels : Intracellular"""	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.255A>G	X.37:g.154528136T>C						CLIC2_ENST00000465553.1_5'UTR	p.K85K	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN			3	473	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		85			N-terminal.|Required for insertion into the membrane (By similarity).		A8K9S0|O15174|Q5JT80|Q8TCE3	Silent	SNP	ENST00000369449.2	37	c.255A>G	CCDS14767.1																																																																																				0.373	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058793.1	NM_001289		33	33	0	0	0	1	0	33	33				
NBEAL1	65065	broad.mit.edu	37	2	204039942	204039942	+	Silent	SNP	G	G	T	rs200940176	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:204039942G>T	ENST00000449802.1	+	41	6642	c.6309G>T	c.(6307-6309)gcG>gcT	p.A2103A		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2103	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAAATTCTGCGGGGGTCATGC	0.368																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(6307-6309)gcG>gcT		neurobeachin-like 1							101.0	101.0	101.0					2																	204039942		1858	4084	5942	SO:0001819	synonymous_variant	65065						binding	g.chr2:204039942G>T	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6309G>T	2.37:g.204039942G>T							p.A2103A	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			41	6642	+			2103			BEACH.		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	ENST00000449802.1	37	c.6309G>T	CCDS46495.1																																																																																				0.368	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			20	29	1	0	1.50039e-11	1	1.69681e-11	20	29				
ASTN2	23245	broad.mit.edu	37	9	119626005	119626005	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:119626005C>T	ENST00000313400.4	-	11	1997	c.1897G>A	c.(1897-1899)Gcg>Acg	p.A633T	ASTN2_ENST00000373996.3_Missense_Mutation_p.A629T|ASTN2_ENST00000361209.2_Missense_Mutation_p.A582T|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	633					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GACAGCATCGCTTCTTCCCTT	0.433																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(1897-1899)Gcg>Acg		astrotactin 2							94.0	75.0	81.0					9																	119626005		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119626005C>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1897G>A	9.37:g.119626005C>T	ENSP00000314038:p.Ala633Thr					ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.A629T|ASTN2_ENST00000361209.2_Missense_Mutation_p.A582T	p.A633T			O75129	ASTN2_HUMAN			11	1997	-			633					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1897G>A		.	.	.	.	.	.	.	.	.	.	C	23.4	4.410573	0.83340	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.12774	2.82;2.83;2.65;2.85	5.52	5.52	0.82312	.	0.137250	0.48767	D	0.000180	T	0.24699	0.0599	N	0.19112	0.55	0.80722	D	1	D;D;D	0.69078	0.988;0.997;0.99	P;D;P	0.77004	0.794;0.989;0.854	T	0.04635	-1.0937	9	.	.	.	-22.566	19.4364	0.94798	0.0:1.0:0.0:0.0	.	582;633;629	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	T	633;629;356;582	ENSP00000314038:A633T;ENSP00000363108:A629T;ENSP00000363098:A356T;ENSP00000354504:A582T	.	A	-	1	0	ASTN2	118665826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.660000	0.68018	2.588000	0.87417	0.655000	0.94253	GCG		0.433	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		9	39	0	0	0	1	0	9	39				
STRADA	92335	broad.mit.edu	37	17	61787874	61787874	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:61787874G>C	ENST00000336174.6	-	8	670	c.558C>G	c.(556-558)atC>atG	p.I186M	STRADA_ENST00000447001.3_Missense_Mutation_p.I142M|STRADA_ENST00000582137.1_Missense_Mutation_p.I157M|STRADA_ENST00000245865.5_Missense_Mutation_p.I128M|STRADA_ENST00000580039.1_5'UTR|RP11-51F16.8_ENST00000580553.1_Intron|STRADA_ENST00000392950.4_Missense_Mutation_p.I149M|STRADA_ENST00000375840.4_Missense_Mutation_p.I128M|STRADA_ENST00000579340.1_Missense_Mutation_p.I128M	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	186	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						CCATGTGGTGGATGTAGTCGA	0.502																																						ENST00000245865.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						c.(382-384)atC>atG		STE20-related kinase adaptor alpha							113.0	94.0	100.0					17																	61787874		2203	4300	6503	SO:0001583	missense	92335				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity	g.chr17:61787874G>C	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.558C>G	17.37:g.61787874G>C	ENSP00000336655:p.Ile186Met					STRADA_ENST00000582137.1_Missense_Mutation_p.I157M|STRADA_ENST00000392950.4_Missense_Mutation_p.I149M|RP11-51F16.8_ENST00000580553.1_Intron|STRADA_ENST00000375840.4_Missense_Mutation_p.I128M|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000336174.6_Missense_Mutation_p.I186M|STRADA_ENST00000579340.1_Missense_Mutation_p.I128M|STRADA_ENST00000447001.3_Missense_Mutation_p.I142M	p.I128M			Q7RTN6	STRAA_HUMAN			7	593	-			186			Protein kinase.		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Missense_Mutation	SNP	ENST00000336174.6	37	c.384C>G	CCDS32703.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892728	0.33442	.	.	ENSG00000125695	ENST00000336174;ENST00000375840;ENST00000447001;ENST00000392950;ENST00000245865	T;T;T;T	0.74526	-0.85;-0.85;-0.85;1.75	5.76	5.76	0.90799	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80330	0.4603	L	0.41710	1.295	0.80722	D	1	D;D;D;P;D;D;D	0.89917	1.0;0.996;0.998;0.879;0.999;0.998;1.0	D;D;D;P;D;D;D	0.91635	0.994;0.995;0.977;0.78;0.983;0.972;0.999	T	0.79938	-0.1592	10	0.51188	T	0.08	.	12.7631	0.57376	0.1161:0.0:0.8839:0.0	.	157;142;128;128;149;149;186	B4DW17;B4DDE3;Q5JPI2;Q86YC8;Q7RTN6-2;Q7RTN6-3;Q7RTN6	.;.;.;.;.;.;STRAA_HUMAN	M	186;128;142;149;148	ENSP00000336655:I186M;ENSP00000365000:I128M;ENSP00000398841:I142M;ENSP00000376677:I149M	ENSP00000245865:I148M	I	-	3	3	STRADA	59141606	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.385000	0.52485	2.719000	0.93026	0.555000	0.69702	ATC		0.502	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1			8	42	0	0	0	1	0	8	42				
EXOC4	60412	broad.mit.edu	37	7	133502284	133502284	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:133502284G>T	ENST00000253861.4	+	11	1750	c.1721G>T	c.(1720-1722)cGg>cTg	p.R574L	EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000545148.1_Missense_Mutation_p.R184L|EXOC4_ENST00000539845.1_Missense_Mutation_p.R473L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	574					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GGAGTGCAGCGGCCTCTCCTA	0.398																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(1720-1722)cGg>cTg		exocyst complex component 4							41.0	41.0	41.0					7																	133502284		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133502284G>T	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1721G>T	7.37:g.133502284G>T	ENSP00000253861:p.Arg574Leu					EXOC4_ENST00000539845.1_Missense_Mutation_p.R473L|EXOC4_ENST00000545148.1_Missense_Mutation_p.R184L|EXOC4_ENST00000460346.1_3'UTR	p.R574L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			11	1750	+		Esophageal squamous(399;0.129)	574					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.1721G>T	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012981	0.93346	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.78426	0.4281	M	0.70275	2.135	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.982	D;D;P	0.68621	0.923;0.959;0.592	T	0.73597	-0.3932	9	0.30078	T	0.28	.	20.2467	0.98398	0.0:0.0:1.0:0.0	.	106;184;574	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	L	574;193;473;184	.	ENSP00000253861:R574L	R	+	2	0	EXOC4	133152824	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.402000	0.97298	2.781000	0.95711	0.555000	0.69702	CGG		0.398	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		6	24	1	0	0.00116845	1	0.00121417	6	24				
SERPINA10	51156	broad.mit.edu	37	14	94756658	94756658	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:94756658G>C	ENST00000393096.1	-	2	738	c.273C>G	c.(271-273)tcC>tcG	p.S91S	SERPINA10_ENST00000554723.1_Silent_p.S131S|SERPINA10_ENST00000554173.1_Silent_p.S91S|SERPINA10_ENST00000261994.4_Silent_p.S91S	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	91					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CGTGCCTCATGGAGATCTTTC	0.557																																						ENST00000554723.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(391-393)tcC>tcG		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10							79.0	72.0	75.0					14																	94756658		2203	4300	6503	SO:0001819	synonymous_variant	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94756658G>C	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.273C>G	14.37:g.94756658G>C						SERPINA10_ENST00000261994.4_Silent_p.S91S|SERPINA10_ENST00000393096.1_Silent_p.S91S|SERPINA10_ENST00000554173.1_Silent_p.S91S	p.S131S			Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	811	-		all_cancers(154;0.105)	91					A5Z2A5|Q6UWX9|Q86U20	Silent	SNP	ENST00000393096.1	37	c.393C>G	CCDS9923.1																																																																																				0.557	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		9	27	0	0	0	1	0	9	27				
GPR153	387509	broad.mit.edu	37	1	6311533	6311533	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:6311533C>A	ENST00000377893.2	-	4	1103	c.844G>T	c.(844-846)Gtg>Ttg	p.V282L		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V282M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CACCACAGCACGCAGAGTGCC	0.692																																						ENST00000377893.2																			1	Substitution - Missense(1)	p.V282M(1)	haematopoietic_and_lymphoid_tissue(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14						c.(844-846)Gtg>Ttg		G protein-coupled receptor 153							43.0	41.0	42.0					1																	6311533		2203	4299	6502	SO:0001583	missense	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6311533C>A	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.844G>T	1.37:g.6311533C>A	ENSP00000367125:p.Val282Leu						p.V282L	NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	4	1103	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	282					Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	ENST00000377893.2	37	c.844G>T	CCDS64.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.074833	0.55646	.	.	ENSG00000158292	ENST00000377893	T	0.71341	-0.56	5.45	4.34	0.51931	.	0.059556	0.64402	D	0.000003	T	0.54902	0.1887	L	0.29908	0.895	0.45979	D	0.998799	B	0.31125	0.309	B	0.26770	0.073	T	0.56655	-0.7943	10	0.44086	T	0.13	-50.4604	9.9183	0.41448	0.0:0.764:0.1466:0.0894	.	282	Q6NV75	GP153_HUMAN	L	282	ENSP00000367125:V282L	ENSP00000367125:V282L	V	-	1	0	GPR153	6234120	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.998000	0.57024	2.561000	0.86390	0.643000	0.83706	GTG		0.692	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2			18	24	1	0	5.3912e-06	1	5.74368e-06	18	24				
POLDIP2	26073	broad.mit.edu	37	17	26677586	26677586	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:26677586G>A	ENST00000540200.1	-	10	786	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	264	ApaG. {ECO:0000255|PROSITE- ProRule:PRU00412}.				mitochondrion morphogenesis (GO:0070584)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)					all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		ATACAGTAGCGCCACTGAGGT	0.483																																						ENST00000540200.1																			0											c.(787-789)Cgc>Tgc		polymerase (DNA-directed), delta interacting protein 2							56.0	57.0	57.0					17																	26677586		1931	4139	6070	SO:0001583	missense	26073					mitochondrial nucleoid|nucleus		g.chr17:26677586G>A	AF077203	CCDS74018.1	17q11.2	2008-02-05			ENSG00000004142	ENSG00000004142			23781	protein-coding gene	gene with protein product		611519				12522211	Standard	NM_015584		Approved	PDIP38, DKFZP586F1524	uc002haz.3	Q9Y2S7	OTTHUMG00000132065	ENST00000540200.1:c.787C>T	17.37:g.26677586G>A	ENSP00000475924:p.Arg263Cys					POLDIP2_ENST00000003607.4_5'UTR	p.R263C	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	10	786	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)		264			ApaG.		B2R846|Q96JE4	Missense_Mutation	SNP	ENST00000540200.1	37	c.787C>T																																																																																					0.483	POLDIP2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015584		6	51	0	0	0	1	0	6	51				
MAP7D3	79649	broad.mit.edu	37	X	135314194	135314194	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:135314194G>C	ENST00000316077.9	-	8	1142	c.922C>G	c.(922-924)Cag>Gag	p.Q308E	MAP7D3_ENST00000370661.1_Missense_Mutation_p.Q273E|MAP7D3_ENST00000370663.5_Missense_Mutation_p.Q290E	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ACATTCACCTGGGGGGGTGCA	0.532																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(922-924)Cag>Gag		MAP7 domain containing 3							179.0	175.0	176.0					X																	135314194		2042	4171	6213	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135314194G>C	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.922C>G	X.37:g.135314194G>C	ENSP00000318086:p.Gln308Glu					MAP7D3_ENST00000370661.1_Missense_Mutation_p.Q273E|MAP7D3_ENST00000370663.5_Missense_Mutation_p.Q290E	p.Q308E	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1142	-	Acute lymphoblastic leukemia(192;0.000127)		308					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.922C>G	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.744108	0.00675	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.07114	3.22;3.22;3.22;3.22	3.95	-4.36	0.03645	.	.	.	.	.	T	0.02494	0.0076	N	0.04203	-0.255	0.09310	N	1	B;B;B;B	0.11235	0.001;0.004;0.003;0.004	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.42120	-0.9470	9	0.02654	T	1	-0.5645	6.017	0.19608	0.0:0.348:0.359:0.293	.	290;267;308;273	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	E	273;308;290;267	ENSP00000359695:Q273E;ENSP00000318086:Q308E;ENSP00000359697:Q290E;ENSP00000359694:Q267E	ENSP00000318086:Q308E	Q	-	1	0	MAP7D3	135141860	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-8.252000	0.00023	-1.485000	0.01854	-0.618000	0.04049	CAG		0.532	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			8	258	0	0	0	1	0	8	258				
OR51T1	401665	broad.mit.edu	37	11	4903237	4903237	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:4903237C>G	ENST00000322049.1	+	1	108	c.108C>G	c.(106-108)ctC>ctG	p.L36L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000380378.1_Silent_p.L63L			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTGCTGTCTCTACACCATTG	0.463																																						ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(187-189)ctC>ctG		olfactory receptor, family 51, subfamily T, member 1							209.0	175.0	186.0					11																	4903237		2201	4298	6499	SO:0001819	synonymous_variant	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903237C>G	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.108C>G	11.37:g.4903237C>G						MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.L36L	p.L63L	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	189	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	36					Q6IFH9	Silent	SNP	ENST00000322049.1	37	c.189C>G																																																																																					0.463	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		8	90	0	0	0	1	0	8	90				
ZHX2	22882	broad.mit.edu	37	8	123964054	123964054	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:123964054C>G	ENST00000314393.4	+	3	1139	c.304C>G	c.(304-306)Ccc>Gcc	p.P102A		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	102					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CATGCAGCATCCCAACGTGAT	0.498																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(304-306)Ccc>Gcc		zinc fingers and homeoboxes 2							108.0	97.0	101.0					8																	123964054		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123964054C>G	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.304C>G	8.37:g.123964054C>G	ENSP00000314709:p.Pro102Ala						p.P102A	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1139	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		102						Missense_Mutation	SNP	ENST00000314393.4	37	c.304C>G	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933156	0.73442	.	.	ENSG00000178764	ENST00000314393	T	0.51325	0.71	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.71693	0.3370	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74315	-0.3705	10	0.72032	D	0.01	-19.8142	19.5336	0.95240	0.0:1.0:0.0:0.0	.	102	Q9Y6X8	ZHX2_HUMAN	A	102	ENSP00000314709:P102A	ENSP00000314709:P102A	P	+	1	0	ZHX2	124033235	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.452000	0.80683	2.637000	0.89404	0.455000	0.32223	CCC		0.498	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		7	105	0	0	0	1	0	7	105				
TLE1	7088	broad.mit.edu	37	9	84231042	84231042	+	Missense_Mutation	SNP	G	G	A	rs151221865		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:84231042G>A	ENST00000376499.3	-	11	1837	c.773C>T	c.(772-774)tCt>tTt	p.S258F	TLE1_ENST00000376484.1_5'Flank|TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	258	CCN domain.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TCGCGGAGAAGAAGGGTCCTC	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		17413	0.0		0.001	False		,,,				2504	0.0				NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(772-774)tCt>tTt		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)		G	PHE/SER	2,4404	4.2+/-10.8	0,2,2201	103.0	108.0	106.0		773	5.4	1.0	9	dbSNP_134	106	5,8595	4.3+/-15.6	0,5,4295	yes	missense	TLE1	NM_005077.3	155	0,7,6496	AA,AG,GG		0.0581,0.0454,0.0538	benign	258/771	84231042	7,12999	2203	4300	6503	SO:0001583	missense	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84231042G>A		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.773C>T	9.37:g.84231042G>A	ENSP00000365682:p.Ser258Phe					TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	p.S258F	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			11	1837	-			258			CCN domain.		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.773C>T	CCDS6661.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.47	3.833711	0.71258	4.54E-4	5.81E-4	ENSG00000196781	ENST00000376499	T	0.47528	0.84	5.41	5.41	0.78517	.	0.178670	0.50627	D	0.000106	T	0.64023	0.2561	L	0.50333	1.59	0.80722	D	1	P;B;P;B	0.45531	0.86;0.239;0.774;0.209	P;B;P;B	0.60789	0.879;0.163;0.498;0.24	T	0.63879	-0.6537	10	0.87932	D	0	-11.1585	19.3887	0.94570	0.0:0.0:1.0:0.0	.	184;258;285;258	B4E345;B4DEF9;Q59EF7;Q04724	.;.;.;TLE1_HUMAN	F	258	ENSP00000365682:S258F	ENSP00000365682:S258F	S	-	2	0	TLE1	83420862	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	9.657000	0.98554	2.826000	0.97356	0.655000	0.94253	TCT		0.478	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		51	86	0	0	0	1	0	51	86				
CCDC120	90060	broad.mit.edu	37	X	48924782	48924782	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:48924782C>A	ENST00000376396.3	+	10	1246	c.1027C>A	c.(1027-1029)Cct>Act	p.P343T	CCDC120_ENST00000496529.2_Missense_Mutation_p.P343T|CCDC120_ENST00000536628.2_Missense_Mutation_p.P331T|CCDC120_ENST00000597275.1_Missense_Mutation_p.P343T|CCDC120_ENST00000422185.2_Missense_Mutation_p.P343T|CCDC120_ENST00000603986.1_Missense_Mutation_p.P378T	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	343										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CCGGGCGGACCCTGCCTCCGA	0.677																																						ENST00000376396.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(1027-1029)Cct>Act		coiled-coil domain containing 120							24.0	26.0	25.0					X																	48924782		2202	4292	6494	SO:0001583	missense	90060						protein binding	g.chrX:48924782C>A	BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.1027C>A	X.37:g.48924782C>A	ENSP00000365577:p.Pro343Thr					CCDC120_ENST00000536628.2_Missense_Mutation_p.P331T|CCDC120_ENST00000496529.2_Missense_Mutation_p.P343T|CCDC120_ENST00000603986.1_Missense_Mutation_p.P378T|CCDC120_ENST00000422185.2_Missense_Mutation_p.P343T|CCDC120_ENST00000597275.1_Missense_Mutation_p.P343T	p.P343T	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN			10	1246	+			343					B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	c.1027C>A	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251524	0.22880	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	5.28	4.36	0.52297	.	0.503315	0.20833	N	0.084857	T	0.34135	0.0887	N	0.14661	0.345	0.09310	N	1	D;B;B;B	0.71674	0.998;0.037;0.037;0.15	D;B;B;B	0.76071	0.987;0.025;0.025;0.066	T	0.16070	-1.0415	9	0.08381	T	0.77	-14.5693	8.4796	0.33034	0.1559:0.6719:0.1723:0.0	.	331;378;331;343	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	T	343;343;331	.	ENSP00000365577:P343T	P	+	1	0	CCDC120	48811726	0.954000	0.32549	0.568000	0.28447	0.507000	0.33981	2.869000	0.48444	2.193000	0.70182	0.529000	0.55759	CCT		0.677	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	NM_033626		26	34	1	0	4.47668e-21	1	5.45881e-21	26	34				
DNHD1	144132	broad.mit.edu	37	11	6588637	6588637	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:6588637C>G	ENST00000527990.2	+	34	11898	c.11898C>G	c.(11896-11898)agC>agG	p.S3966R	DNHD1_ENST00000254579.6_Missense_Mutation_p.S3966R			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3966					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTCTCCCAGCACAGTCCACA	0.582																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(11896-11898)agC>agG		dynein heavy chain domain 1							35.0	43.0	41.0					11																	6588637		2036	4181	6217	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6588637C>G	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11898C>G	11.37:g.6588637C>G	ENSP00000436180:p.Ser3966Arg					DNHD1_ENST00000527990.2_Missense_Mutation_p.S3966R	p.S3966R	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	36	12462	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	3966					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.11898C>G	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496366	0.44352	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.27256	1.68;1.68	4.54	3.59	0.41128	.	0.457002	0.22787	N	0.055652	T	0.33469	0.0864	L	0.27053	0.805	0.27376	N	0.955551	D;D;D;D	0.69078	0.997;0.989;0.997;0.997	D;P;D;D	0.63597	0.916;0.737;0.916;0.916	T	0.08269	-1.0730	10	0.33940	T	0.23	-12.6846	14.6742	0.68967	0.0:0.8406:0.1594:0.0	.	3054;234;19;3966	B0I1S4;D3DQT9;Q9NSW8;Q96M86	.;.;.;DNHD1_HUMAN	R	3966;3966;234;234	ENSP00000254579:S3966R;ENSP00000436180:S3966R	ENSP00000254579:S3966R	S	+	3	2	DNHD1	6545213	0.994000	0.37717	0.997000	0.53966	0.801000	0.45260	1.561000	0.36342	2.359000	0.80004	0.561000	0.74099	AGC		0.582	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		6	16	0	0	0	1	0	6	16				
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:142168890C>T	ENST00000454561.2	-	0	155									T cell receptor beta variable 5-4																		GGGCTTGGTCCTCCTGGGGAA	0.592																																						ENST00000454561.2																			0																				25.0	26.0	26.0					7																	142168890		1957	4131	6088			28611							g.chr7:142168890C>T	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168890C>T														0	155	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.592	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		3	14	0	0	0	1	0	3	14				
DNAH10	196385	broad.mit.edu	37	12	124330610	124330610	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:124330610G>C	ENST00000409039.3	+	31	5394	c.5369G>C	c.(5368-5370)gGa>gCa	p.G1790A		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1790	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGTGCACGGGAACCTTTGGC	0.597																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5368-5370)gGa>gCa		dynein, axonemal, heavy chain 10							74.0	79.0	77.0					12																	124330610		1994	4160	6154	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124330610G>C	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5369G>C	12.37:g.124330610G>C	ENSP00000386770:p.Gly1790Ala						p.G1790A	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	31	5394	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1790			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.5369G>C	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	9.889	1.203753	0.22121	.	.	ENSG00000197653	ENST00000409039	T	0.15603	2.41	5.56	5.56	0.83823	.	0.161113	0.40554	U	0.001070	T	0.16342	0.0393	N	0.17674	0.51	0.52501	D	0.999957	P	0.40553	0.721	P	0.46940	0.532	T	0.01013	-1.1481	10	0.02654	T	1	.	19.5312	0.95230	0.0:0.0:1.0:0.0	.	1790	Q8IVF4	DYH10_HUMAN	A	1790	ENSP00000386770:G1790A	ENSP00000386770:G1790A	G	+	2	0	DNAH10	122896563	1.000000	0.71417	0.431000	0.26735	0.519000	0.34347	6.906000	0.75719	2.606000	0.88127	0.561000	0.74099	GGA		0.597	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			4	114	0	0	0	1	0	4	114				
C4orf33	132321	broad.mit.edu	37	4	130027803	130027803	+	Splice_Site	SNP	G	G	A	rs201363498		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:130027803G>A	ENST00000281146.5	+	3	963		c.e3+1		C4orf33_ENST00000425929.1_Splice_Site|C4orf33_ENST00000502887.1_Splice_Site	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						AACTTTGTCCGTAAGTATAAA	0.249													G|||	1	0.000199681	0.0	0.0	5008	,	,		13797	0.0		0.001	False		,,,				2504	0.0					ENST00000281146.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.e3+1		chromosome 4 open reading frame 33							40.0	44.0	43.0					4																	130027803		2156	4219	6375	SO:0001630	splice_region_variant	132321							g.chr4:130027803G>A	AK091022	CCDS3741.1	4q28.2	2008-02-05			ENSG00000151470	ENSG00000151470			27025	protein-coding gene	gene with protein product						12477932	Standard	NM_001099783		Approved	FLJ33703	uc010iod.3	Q8N1A6	OTTHUMG00000133347	ENST00000281146.5:c.242+1G>A	4.37:g.130027803G>A						C4orf33_ENST00000502887.1_Splice_Site|C4orf33_ENST00000425929.1_Splice_Site		NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN			3	963	+								D3DNY2|Q6PJF3|Q8NBC5	Splice_Site	SNP	ENST00000281146.5	37		CCDS3741.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	22.9	4.349817	0.82132	.	.	ENSG00000151470	ENST00000281146;ENST00000502887;ENST00000425929;ENST00000508673	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7991	0.88581	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C4orf33	130247253	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.589000	0.90817	2.718000	0.92993	0.655000	0.94253	.		0.249	C4orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257177.2	NM_173487	Intron	3	17	0	0	0	1	0	3	17				
SCN5A	6331	broad.mit.edu	37	3	38640529	38640529	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:38640529C>G	ENST00000333535.4	-	13	2052	c.1903G>C	c.(1903-1905)Gag>Cag	p.E635Q	SCN5A_ENST00000449557.2_Missense_Mutation_p.E635Q|SCN5A_ENST00000414099.2_Missense_Mutation_p.E635Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.E635Q|SCN5A_ENST00000455624.2_Missense_Mutation_p.E635Q|SCN5A_ENST00000443581.1_Missense_Mutation_p.E635Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.E635Q|SCN5A_ENST00000450102.2_Missense_Mutation_p.E635Q|SCN5A_ENST00000413689.1_Missense_Mutation_p.E635Q|SCN5A_ENST00000451551.2_Missense_Mutation_p.E635Q			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	635					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTGGCTCCTCCGATGGCGTG	0.667																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(1903-1905)Gag>Cag		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						21.0	26.0	24.0					3																	38640529		2122	4239	6361	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38640529C>G	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1903G>C	3.37:g.38640529C>G	ENSP00000328968:p.Glu635Gln					SCN5A_ENST00000455624.2_Missense_Mutation_p.E635Q|SCN5A_ENST00000451551.2_Missense_Mutation_p.E635Q|SCN5A_ENST00000333535.4_Missense_Mutation_p.E635Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.E635Q|SCN5A_ENST00000450102.2_Missense_Mutation_p.E635Q|SCN5A_ENST00000443581.1_Missense_Mutation_p.E635Q|SCN5A_ENST00000449557.2_Missense_Mutation_p.E635Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.E635Q|SCN5A_ENST00000414099.2_Missense_Mutation_p.E635Q	p.E635Q	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	13	2096	-	Medulloblastoma(35;0.163)		635					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.1903G>C	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287737	0.59976	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	4.37	4.37	0.52481	Domain of unknown function DUF3451 (1);	1.217810	0.05828	N	0.617029	D	0.93255	0.7851	M	0.71581	2.175	0.33061	D	0.534129	P;P;P;P;P;P;P	0.46064	0.872;0.815;0.807;0.839;0.631;0.813;0.578	P;B;B;P;B;P;B	0.48552	0.481;0.419;0.445;0.581;0.307;0.452;0.204	D	0.88712	0.3223	10	0.38643	T	0.18	.	16.9294	0.86186	0.0:1.0:0.0:0.0	.	635;635;635;635;635;635;635	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	Q	635	ENSP00000398962:E635Q;ENSP00000398266:E635Q;ENSP00000410257:E635Q;ENSP00000388797:E635Q;ENSP00000397915:E635Q;ENSP00000416634:E635Q;ENSP00000328968:E635Q;ENSP00000399524:E635Q;ENSP00000403355:E635Q;ENSP00000413996:E635Q	ENSP00000328968:E635Q	E	-	1	0	SCN5A	38615533	1.000000	0.71417	0.997000	0.53966	0.696000	0.40369	4.592000	0.61027	1.989000	0.58080	0.561000	0.74099	GAG		0.667	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		14	25	0	0	0	1	0	14	25				
TTC16	158248	broad.mit.edu	37	9	130493269	130493269	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:130493269C>G	ENST00000373289.3	+	14	2287	c.2207C>G	c.(2206-2208)aCt>aGt	p.T736S	TTC16_ENST00000489226.1_3'UTR|TOR2A_ENST00000472723.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	736										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TCCAGCAAGACTGAGGCCACT	0.652																																						ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(2206-2208)aCt>aGt		tetratricopeptide repeat domain 16							43.0	44.0	44.0					9																	130493269		2202	4299	6501	SO:0001583	missense	158248						binding	g.chr9:130493269C>G	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.2207C>G	9.37:g.130493269C>G	ENSP00000362386:p.Thr736Ser					TTC16_ENST00000489226.1_3'UTR	p.T736S	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN			14	2287	+			736					B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.2207C>G	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474180	0.26423	.	.	ENSG00000167094	ENST00000373289	T	0.17691	2.26	4.27	3.37	0.38596	.	0.313577	0.23748	N	0.044949	T	0.17450	0.0419	M	0.62723	1.935	0.19775	N	0.999958	B;B	0.33528	0.416;0.416	B;B	0.32533	0.092;0.147	T	0.16247	-1.0409	10	0.66056	D	0.02	-4.13	8.1402	0.31078	0.0:0.8919:0.0:0.1081	.	723;736	B4DZ42;Q8NEE8	.;TTC16_HUMAN	S	736	ENSP00000362386:T736S	ENSP00000362386:T736S	T	+	2	0	TTC16	129533090	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.611000	0.24268	1.390000	0.46547	0.511000	0.50034	ACT		0.652	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		8	43	0	0	0	1	0	8	43				
A1CF	29974	broad.mit.edu	37	10	52595854	52595854	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:52595854G>A	ENST00000373993.1	-	4	628	c.584C>T	c.(583-585)gCg>gTg	p.A195V	A1CF_ENST00000374001.2_Missense_Mutation_p.A195V|A1CF_ENST00000282641.2_Missense_Mutation_p.A195V|A1CF_ENST00000373997.3_Missense_Mutation_p.A195V|A1CF_ENST00000395495.1_Missense_Mutation_p.A195V|A1CF_ENST00000395489.2_Missense_Mutation_p.A188V|A1CF_ENST00000373995.3_Missense_Mutation_p.A203V			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	195	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.A203V(2)|p.A195V(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTCCTCCTCGCCATGGCAGC	0.488																																						ENST00000395489.2																			4	Substitution - Missense(4)	p.A203V(2)|p.A195V(2)	lung(2)|breast(2)	NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(562-564)gCg>gTg		APOBEC1 complementation factor							106.0	96.0	100.0					10																	52595854		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52595854G>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.584C>T	10.37:g.52595854G>A	ENSP00000363105:p.Ala195Val					A1CF_ENST00000282641.2_Missense_Mutation_p.A195V|A1CF_ENST00000373995.3_Missense_Mutation_p.A203V|A1CF_ENST00000374001.1_Missense_Mutation_p.A195V|A1CF_ENST00000373993.1_Missense_Mutation_p.A195V|A1CF_ENST00000395495.1_Missense_Mutation_p.A195V|A1CF_ENST00000373997.3_Missense_Mutation_p.A195V	p.A188V	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			8	959	-			195			RRM 2.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.563C>T	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550854	0.86127	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28	6.04	5.1	0.69264	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.046025	0.85682	D	0.000000	T	0.64616	0.2614	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.993;0.998	D;P;P;P	0.64042	0.921;0.893;0.73;0.888	T	0.71255	-0.4647	10	0.87932	D	0	-9.2963	16.5645	0.84575	0.0:0.1418:0.8582:0.0	.	188;195;195;203	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	V	195;195;195;203;195;195;178;188;195	ENSP00000363113:A195V;ENSP00000363105:A195V;ENSP00000363109:A195V;ENSP00000363107:A203V;ENSP00000282641:A195V;ENSP00000378873:A195V;ENSP00000378868:A188V;ENSP00000397953:A195V	ENSP00000282641:A195V	A	-	2	0	A1CF	52265860	1.000000	0.71417	0.999000	0.59377	0.619000	0.37552	7.811000	0.86092	2.873000	0.98535	0.563000	0.77884	GCG		0.488	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		35	54	0	0	0	1	0	35	54				
CHDC2	286464	broad.mit.edu	37	X	36162703	36162703	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:36162703A>G	ENST00000313548.4	+	11	1472	c.1286A>G	c.(1285-1287)gAg>gGg	p.E429G		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	429	CH.					integral component of membrane (GO:0016021)											tttccaaaggagatggatgca	0.473																																						ENST00000378660.1																			0											c.(1285-1287)gAg>gGg		calponin homology domain containing 2							132.0	130.0	131.0					X																	36162703		2202	4300	6502	SO:0001583	missense	286464							g.chrX:36162703A>G	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.1286A>G	X.37:g.36162703A>G	ENSP00000324767:p.Glu429Gly					CHDC2_ENST00000313548.4_Missense_Mutation_p.E429G	p.E429G							11	1474	+									Missense_Mutation	SNP	ENST00000313548.4	37	c.1286A>G	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	A	6.384	0.439035	0.12104	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	0.694	0.694	0.18062	.	2.988610	0.03278	U	0.185755	T	0.20577	0.0495	N	0.08118	0	0.09310	N	1	B	0.23854	0.092	B	0.14023	0.01	T	0.25641	-1.0126	8	0.62326	D	0.03	.	.	.	.	.	429	Q8N9S7	CX059_HUMAN	G	429	.	ENSP00000324767:E429G	E	+	2	0	CXorf59	36072624	0.012000	0.17670	0.001000	0.08648	0.001000	0.01503	0.507000	0.22675	0.496000	0.27904	0.486000	0.48141	GAG		0.473	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		27	38	0	0	0	1	0	27	38				
PKHD1L1	93035	broad.mit.edu	37	8	110412557	110412557	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:110412557G>C	ENST00000378402.5	+	13	1369	c.1265G>C	c.(1264-1266)gGa>gCa	p.G422A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	422					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGCCAGACTGGACTTCCAGAA	0.353										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(1264-1266)gGa>gCa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							128.0	119.0	122.0					8																	110412557		1843	4087	5930	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110412557G>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1265G>C	8.37:g.110412557G>C	ENSP00000367655:p.Gly422Ala	HNSCC(38;0.096)					p.G422A	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		13	1369	+			422					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1265G>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852532	0.51270	.	.	ENSG00000205038	ENST00000378402	T	0.21031	2.03	5.42	4.54	0.55810	PA14 (1);	0.242926	0.34411	N	0.003990	T	0.26666	0.0652	L	0.39633	1.23	0.28318	N	0.922353	P	0.49961	0.93	P	0.53102	0.718	T	0.05649	-1.0872	10	0.23302	T	0.38	.	12.2414	0.54544	0.0835:0.0:0.9165:0.0	.	422	Q86WI1	PKHL1_HUMAN	A	422	ENSP00000367655:G422A	ENSP00000367655:G422A	G	+	2	0	PKHD1L1	110481733	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.468000	0.53086	1.283000	0.44513	0.563000	0.77884	GGA		0.353	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		7	143	0	0	0	1	0	7	143				
COL24A1	255631	broad.mit.edu	37	1	86591069	86591069	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:86591069A>G	ENST00000370571.2	-	3	1316	c.950T>C	c.(949-951)cTt>cCt	p.L317P	COL24A1_ENST00000436319.1_Missense_Mutation_p.L317P	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	317					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCTGACTGAAGAGAAGATAA	0.378																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(949-951)cTt>cCt		collagen, type XXIV, alpha 1							105.0	96.0	99.0					1																	86591069		1879	4115	5994	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86591069A>G	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.950T>C	1.37:g.86591069A>G	ENSP00000359603:p.Leu317Pro					COL24A1_ENST00000436319.1_Missense_Mutation_p.L317P	p.L317P	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1316	-			317					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.950T>C	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	A	8.744	0.919615	0.17982	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.18657	2.27;2.2	5.69	5.69	0.88448	.	0.219302	0.23279	N	0.049926	T	0.16727	0.0402	N	0.14661	0.345	0.42046	D	0.991092	D;D	0.67145	0.996;0.994	D;P	0.65874	0.939;0.832	T	0.15263	-1.0443	10	0.27082	T	0.32	.	15.1134	0.72380	1.0:0.0:0.0:0.0	.	317;317	F8WDM8;Q17RW2	.;COOA1_HUMAN	P	317	ENSP00000359603:L317P;ENSP00000392531:L317P	ENSP00000359603:L317P	L	-	2	0	COL24A1	86363657	1.000000	0.71417	0.827000	0.32855	0.199000	0.23934	4.302000	0.59092	2.165000	0.68154	0.460000	0.39030	CTT		0.378	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		25	43	0	0	0	1	0	25	43				
FAM71B	153745	broad.mit.edu	37	5	156589514	156589514	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:156589514C>T	ENST00000302938.4	-	2	1857	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	588						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCATAGTGCCACTGATCATC	0.507																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1762-1764)Ggc>Agc		family with sequence similarity 71, member B							252.0	246.0	248.0					5																	156589514		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156589514C>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1762G>A	5.37:g.156589514C>T	ENSP00000305596:p.Gly588Ser						p.G588S	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1857	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	588					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1762G>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597173	0.28445	.	.	ENSG00000170613	ENST00000302938	T	0.16743	2.32	3.87	1.0	0.19881	.	0.730154	0.11821	N	0.526162	T	0.13970	0.0338	L	0.47016	1.485	0.09310	N	1	P	0.52316	0.952	B	0.41036	0.346	T	0.16041	-1.0416	10	0.54805	T	0.06	-8.0325	5.6881	0.17815	0.0:0.6258:0.0:0.3742	.	588	Q8TC56	FA71B_HUMAN	S	588	ENSP00000305596:G588S	ENSP00000305596:G588S	G	-	1	0	FAM71B	156522092	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	0.280000	0.18790	0.187000	0.20147	-0.150000	0.13652	GGC		0.507	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		110	153	0	0	0	1	0	110	153				
WDR49	151790	broad.mit.edu	37	3	167278004	167278004	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:167278004C>G	ENST00000308378.3	-	5	804	c.499G>C	c.(499-501)Gat>Cat	p.D167H	WDR49_ENST00000453925.2_Missense_Mutation_p.D220H|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_5'UTR	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	167										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GACCCTGTATCAGAGCTGATT	0.373																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(499-501)Gat>Cat		WD repeat domain 49							76.0	75.0	76.0					3																	167278004		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167278004C>G	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.499G>C	3.37:g.167278004C>G	ENSP00000311343:p.Asp167His					WDR49_ENST00000453925.2_Missense_Mutation_p.D220H|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_5'UTR	p.D167H	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			5	804	-			167					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.499G>C	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376930	0.24857	.	.	ENSG00000174776	ENST00000308378;ENST00000453925;ENST00000466760	T;T;T	0.71222	1.53;2.21;-0.55	4.93	4.06	0.47325	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.431349	0.25472	N	0.030424	T	0.76877	0.4049	L	0.46157	1.445	0.36526	D	0.870453	D;D	0.76494	0.999;0.999	D;P	0.64042	0.921;0.897	T	0.81799	-0.0767	10	0.62326	D	0.03	.	12.4672	0.55766	0.0:0.9167:0.0:0.0833	.	220;167	E7EQK3;Q8IV35	.;WDR49_HUMAN	H	167;220;60	ENSP00000311343:D167H;ENSP00000410863:D220H;ENSP00000418718:D60H	ENSP00000311343:D167H	D	-	1	0	WDR49	168760698	1.000000	0.71417	0.999000	0.59377	0.224000	0.24922	4.371000	0.59523	1.214000	0.43395	-0.237000	0.12165	GAT		0.373	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		27	29	0	0	0	1	0	27	29				
RABEP1	9135	broad.mit.edu	37	17	5276627	5276627	+	Silent	SNP	C	C	A	rs372513782		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:5276627C>A	ENST00000546142.2	+	13	2090	c.1903C>A	c.(1903-1905)Cgg>Agg	p.R635R	NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000262477.6_Silent_p.R635R|RABEP1_ENST00000341923.6_Silent_p.R635R|RABEP1_ENST00000408982.2_Silent_p.R635R|RABEP1_ENST00000537505.1_Silent_p.R592R|RP11-420A6.2_ENST00000572792.1_RNA			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	635					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GATGCAGTCACGGGAACAGGT	0.458																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1903-1905)Cgg>Agg		rabaptin, RAB GTPase binding effector protein 1							101.0	96.0	97.0					17																	5276627		1957	4164	6121	SO:0001819	synonymous_variant	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5276627C>A	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1903C>A	17.37:g.5276627C>A						NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000408982.2_Silent_p.R635R|RABEP1_ENST00000341923.6_Silent_p.R635R|RABEP1_ENST00000546142.2_Silent_p.R635R|RABEP1_ENST00000537505.1_Silent_p.R592R	p.R635R	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			13	2127	+			635					B2RAG7|O95369|Q8IVX3	Silent	SNP	ENST00000546142.2	37	c.1903C>A	CCDS45592.1																																																																																				0.458	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		13	11	1	0	1.36491e-13	1	1.57338e-13	13	11				
KIF21B	23046	broad.mit.edu	37	1	200969636	200969636	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:200969636C>A	ENST00000422435.2	-	11	1883	c.1567G>T	c.(1567-1569)Gcc>Tcc	p.A523S	KIF21B_ENST00000461742.2_Missense_Mutation_p.A523S|KIF21B_ENST00000332129.2_Missense_Mutation_p.A523S|KIF21B_ENST00000360529.5_Missense_Mutation_p.A523S	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	523					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AAGGCCGGGGCGGCTGGAGAA	0.652																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(1567-1569)Gcc>Tcc		kinesin family member 21B							40.0	49.0	46.0					1																	200969636		2203	4299	6502	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200969636C>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1567G>T	1.37:g.200969636C>A	ENSP00000411831:p.Ala523Ser					KIF21B_ENST00000360529.5_Missense_Mutation_p.A523S|KIF21B_ENST00000461742.2_Missense_Mutation_p.A523S|KIF21B_ENST00000422435.2_Missense_Mutation_p.A523S	p.A523S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			11	1883	-			523					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.1567G>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.283989	0.01398	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.70399	-0.14;-0.45;-0.48;-0.17	5.17	0.91	0.19337	.	0.386638	0.25363	N	0.031215	T	0.38321	0.1036	N	0.11313	0.125	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.001;0.002	T	0.24905	-1.0147	10	0.05351	T	0.99	.	3.1898	0.06613	0.1092:0.5134:0.1489:0.2285	.	523;523;523;523	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	S	523	ENSP00000328494:A523S;ENSP00000353724:A523S;ENSP00000433808:A523S;ENSP00000411831:A523S	ENSP00000328494:A523S	A	-	1	0	KIF21B	199236259	0.000000	0.05858	0.002000	0.10522	0.107000	0.19398	-0.132000	0.10467	0.197000	0.20387	-0.426000	0.05927	GCC		0.652	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		36	77	1	0	1.60099e-16	1	1.89737e-16	36	77				
LMLN	89782	broad.mit.edu	37	3	197762833	197762833	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:197762833C>G	ENST00000330198.4	+	15	1808	c.1786C>G	c.(1786-1788)Cca>Gca	p.P596A	LMLN_ENST00000420910.2_Missense_Mutation_p.P633A|LMLN-AS1_ENST00000423460.1_RNA|LMLN_ENST00000482695.1_Missense_Mutation_p.P581A|LMLN_ENST00000332636.5_Missense_Mutation_p.P544A	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	596					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CCTGCTCTGCCCATCATGTTG	0.522																																						ENST00000330198.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1786-1788)Cca>Gca		leishmanolysin-like (metallopeptidase M8 family)							122.0	113.0	116.0					3																	197762833		2203	4300	6503	SO:0001583	missense	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197762833C>G	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1786C>G	3.37:g.197762833C>G	ENSP00000328829:p.Pro596Ala					LMLN_ENST00000332636.5_Missense_Mutation_p.P544A|LMLN_ENST00000482695.1_Missense_Mutation_p.P581A|LMLN_ENST00000420910.2_Missense_Mutation_p.P633A	p.P596A	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	15	1808	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	596					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	c.1786C>G	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197851	0.79015	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.28	5.28	0.74379	.	0.059206	0.64402	D	0.000001	D	0.83801	0.5333	M	0.73430	2.235	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;1.0;0.999;1.0;1.0	D	0.85488	0.1183	10	0.66056	D	0.02	-12.8561	16.4673	0.84083	0.0:1.0:0.0:0.0	.	596;544;633;625;581	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	A	581;596;633;544	ENSP00000418324:P581A;ENSP00000328829:P596A;ENSP00000410926:P633A;ENSP00000328611:P544A	ENSP00000328829:P596A	P	+	1	0	LMLN	199247230	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	6.434000	0.73408	2.452000	0.82932	0.650000	0.86243	CCA		0.522	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		8	100	0	0	0	1	0	8	100				
VPS13B	157680	broad.mit.edu	37	8	100654570	100654570	+	Nonsense_Mutation	SNP	C	C	T	rs386834099		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:100654570C>T	ENST00000358544.2	+	34	5938	c.5827C>T	c.(5827-5829)Cga>Tga	p.R1943*	VPS13B_ENST00000357162.2_Nonsense_Mutation_p.R1918*|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1943					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCAGCCTGGTCGAAGAGGAAC	0.468																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	GRCh37	CM041275	VPS13B	M		c.(5827-5829)Cga>Tga		vacuolar protein sorting 13 homolog B (yeast)							163.0	156.0	159.0					8																	100654570		2203	4300	6503	SO:0001587	stop_gained	157680				protein transport			g.chr8:100654570C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.5827C>T	8.37:g.100654570C>T	ENSP00000351346:p.Arg1943*					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.R1918*	p.R1943*	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		34	5938	+	Breast(36;3.73e-07)		1943					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Nonsense_Mutation	SNP	ENST00000358544.2	37	c.5827C>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	46	12.183688	0.99644	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	.	.	.	5.8	4.92	0.64577	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2601	0.82536	0.1337:0.8663:0.0:0.0	.	.	.	.	X	1918;1943	.	ENSP00000349685:R1918X	R	+	1	2	VPS13B	100723746	0.998000	0.40836	0.999000	0.59377	0.995000	0.86356	3.804000	0.55568	1.454000	0.47793	0.561000	0.74099	CGA		0.468	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		6	204	0	0	0	1	0	6	204				
GLMN	11146	broad.mit.edu	37	1	92733679	92733679	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:92733679C>G	ENST00000370360.3	-	10	1072	c.991G>C	c.(991-993)Gtt>Ctt	p.V331L	GLMN_ENST00000534881.1_Missense_Mutation_p.V331L	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	331					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTGGAGATAACAGACTCTTCT	0.264									Multiple Glomus Tumors (of the Skin), Familial																													ENST00000370360.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17						c.(991-993)Gtt>Ctt		glomulin, FKBP associated protein							43.0	49.0	47.0					1																	92733679		2193	4277	6470	SO:0001583	missense	11146	Multiple Glomus Tumors (of the Skin), Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92733679C>G	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.991G>C	1.37:g.92733679C>G	ENSP00000359385:p.Val331Leu					GLMN_ENST00000534881.1_Missense_Mutation_p.V331L	p.V331L	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	10	1072	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	331					Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.991G>C	CCDS738.1	.	.	.	.	.	.	.	.	.	.	C	3.592	-0.083405	0.07141	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.39056	1.1;1.1	4.94	0.718	0.18202	.	0.790127	0.12121	N	0.497666	T	0.11452	0.0279	L	0.38531	1.155	0.20489	N	0.999899	B;B	0.29988	0.264;0.068	B;B	0.31869	0.137;0.047	T	0.35101	-0.9802	10	0.19147	T	0.46	-0.2613	5.8162	0.18494	0.0:0.4989:0.1277:0.3733	.	331;331	B4DJ85;Q92990	.;GLMN_HUMAN	L	331	ENSP00000359385:V331L;ENSP00000440156:V331L	ENSP00000359385:V331L	V	-	1	0	GLMN	92506267	0.945000	0.32115	0.993000	0.49108	0.689000	0.40095	0.011000	0.13264	-0.051000	0.13334	0.655000	0.94253	GTT		0.264	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		21	35	0	0	0	1	0	21	35				
SCAF11	9169	broad.mit.edu	37	12	46320063	46320063	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:46320063C>A	ENST00000369367.3	-	11	3654	c.3421G>T	c.(3421-3423)Gga>Tga	p.G1141*	SCAF11_ENST00000549162.1_Nonsense_Mutation_p.G949*|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_Nonsense_Mutation_p.G826*|SCAF11_ENST00000419565.2_Nonsense_Mutation_p.G1141*	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1141					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GATGTCCATCCAGATCTATCT	0.448																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2476-2478)Gga>Tga		SR-related CTD-associated factor 11							134.0	123.0	127.0					12																	46320063		2203	4300	6503	SO:0001587	stop_gained	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320063C>A	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3421G>T	12.37:g.46320063C>A	ENSP00000358374:p.Gly1141*					SCAF11_ENST00000419565.2_Nonsense_Mutation_p.G1141*|SCAF11_ENST00000549162.1_Nonsense_Mutation_p.G949*|SCAF11_ENST00000369367.3_Nonsense_Mutation_p.G1141*	p.G826*			Q99590	SCAFB_HUMAN			1	3685	-			1141					A6NEU9|A6NLW5|Q8IW59	Nonsense_Mutation	SNP	ENST00000369367.3	37	c.2476G>T	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	48	14.048906	0.99777	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	.	.	.	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.2995	20.3015	0.98615	0.0:1.0:0.0:0.0	.	.	.	.	X	826;1141;949;1141	.	ENSP00000358374:G1141X	G	-	1	0	SCAF11	44606330	1.000000	0.71417	0.918000	0.36340	0.280000	0.26924	6.961000	0.76042	2.809000	0.96659	0.655000	0.94253	GGA		0.448	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		33	108	1	0	8.4185e-14	1	9.75132e-14	33	108				
WBP2NL	164684	broad.mit.edu	37	22	42418255	42418255	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:42418255G>T	ENST00000328823.9	+	5	440	c.409G>T	c.(409-411)Gcc>Tcc	p.A137S	WBP2NL_ENST00000543212.1_Missense_Mutation_p.A63S	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	137					egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CTTTCCAGCTGCCCGAGGATT	0.373																																						ENST00000328823.9																			0				breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						c.(409-411)Gcc>Tcc		WBP2 N-terminal like							109.0	104.0	105.0					22																	42418255		2203	4300	6503	SO:0001583	missense	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42418255G>T	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.409G>T	22.37:g.42418255G>T	ENSP00000332983:p.Ala137Ser					WBP2NL_ENST00000543212.1_Missense_Mutation_p.A63S	p.A137S	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN			5	440	+			137					A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Missense_Mutation	SNP	ENST00000328823.9	37	c.409G>T	CCDS14029.1	.	.	.	.	.	.	.	.	.	.	G	5.118	0.207378	0.09704	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	T;T	0.28895	1.59;1.59	3.35	3.35	0.38373	WW-domain-binding protein (1);	0.241659	0.22275	N	0.062202	T	0.12220	0.0297	N	0.05050	-0.12	0.31842	N	0.623308	B	0.33883	0.43	B	0.34452	0.183	T	0.15206	-1.0445	10	0.02654	T	1	-6.2124	10.4955	0.44775	0.0:0.0:1.0:0.0	.	137	Q6ICG8	WBP2L_HUMAN	S	137;63	ENSP00000332983:A137S;ENSP00000442447:A63S	ENSP00000332983:A137S	A	+	1	0	WBP2NL	40748201	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	2.255000	0.43222	2.176000	0.68965	0.650000	0.86243	GCC		0.373	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		23	56	1	0	7.41877e-09	1	8.22217e-09	23	56				
MACF1	23499	broad.mit.edu	37	1	39750068	39750068	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:39750068G>C	ENST00000372915.3	+	10	1201	c.1114G>C	c.(1114-1116)Gga>Cga	p.G372R	MACF1_ENST00000539005.1_Missense_Mutation_p.G372R|MACF1_ENST00000567887.1_Missense_Mutation_p.G404R|MACF1_ENST00000545844.1_Missense_Mutation_p.G372R|MACF1_ENST00000361689.2_Missense_Mutation_p.G372R|MACF1_ENST00000564288.1_Missense_Mutation_p.G367R|MACF1_ENST00000317713.7_Missense_Mutation_p.G372R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	372					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGAGAAAAAGGAAGAATTGA	0.333																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(1099-1101)Gga>Cga		microtubule-actin crosslinking factor 1							63.0	69.0	67.0					1																	39750068		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39750068G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1114G>C	1.37:g.39750068G>C	ENSP00000362006:p.Gly372Arg					MACF1_ENST00000361689.2_Missense_Mutation_p.G372R|MACF1_ENST00000539005.1_Missense_Mutation_p.G372R|MACF1_ENST00000545844.1_Missense_Mutation_p.G372R|MACF1_ENST00000372915.3_Missense_Mutation_p.G372R|MACF1_ENST00000317713.7_Missense_Mutation_p.G372R|MACF1_ENST00000567887.1_Missense_Mutation_p.G404R	p.G367R			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		11	1876	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	372					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.1099G>C		.	.	.	.	.	.	.	.	.	.	G	12.39	1.924158	0.34002	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.55	5.55	0.83447	.	.	.	.	.	T	0.70474	0.3228	L	0.55743	1.74	0.80722	D	1	B;P	0.49185	0.001;0.92	B;P	0.51550	0.003;0.673	T	0.70447	-0.4869	9	0.44086	T	0.13	.	13.7597	0.62959	0.0735:0.0:0.9265:0.0	.	372;337	F8W8Q1;Q9UPN3-3	.;.	R	372;372;372;372;372;330;521;532	ENSP00000439537:G372R;ENSP00000362006:G372R;ENSP00000354573:G372R;ENSP00000313438:G372R;ENSP00000444364:G372R;ENSP00000435070:G330R;ENSP00000437059:G521R	ENSP00000313438:G372R	G	+	1	0	MACF1	39522655	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.676000	0.37565	2.590000	0.87494	0.655000	0.94253	GGA		0.333	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		4	46	0	0	0	1	0	4	46				
LAMA4	3910	broad.mit.edu	37	6	112471741	112471741	+	Silent	SNP	G	G	A	rs70940810		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:112471741G>A	ENST00000230538.7	-	17	2542	c.2145C>T	c.(2143-2145)gcC>gcT	p.A715A	LAMA4_ENST00000389463.4_Silent_p.A708A|LAMA4_ENST00000424408.2_Silent_p.A708A|LAMA4_ENST00000522006.1_Silent_p.A708A	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	715	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTGCTTAACGGCATCACTGA	0.488																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(2143-2145)gcC>gcT		laminin, alpha 4							232.0	197.0	209.0					6																	112471741		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112471741G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2145C>T	6.37:g.112471741G>A						LAMA4_ENST00000424408.2_Silent_p.A708A|LAMA4_ENST00000522006.1_Silent_p.A708A|LAMA4_ENST00000389463.4_Silent_p.A708A	p.A715A	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	17	2542	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	715			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.2145C>T	CCDS43491.1																																																																																				0.488	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		17	63	0	0	0	1	0	17	63				
PLCG1	5335	broad.mit.edu	37	20	39797792	39797792	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:39797792G>A	ENST00000373271.1	+	22	2962	c.2557G>A	c.(2557-2559)Gtg>Atg	p.V853M	PLCG1_ENST00000244007.3_Missense_Mutation_p.V853M|PLCG1_ENST00000373272.2_Missense_Mutation_p.V853M	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	853					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGTCAACCCCGTGGCCCTGGA	0.587																																						ENST00000373272.2																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(2557-2559)Gtg>Atg		phospholipase C, gamma 1							111.0	84.0	93.0					20																	39797792		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39797792G>A	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2557G>A	20.37:g.39797792G>A	ENSP00000362368:p.Val853Met					PLCG1_ENST00000244007.3_Missense_Mutation_p.V853M|PLCG1_ENST00000373271.1_Missense_Mutation_p.V853M	p.V853M	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN			22	2962	+		Myeloproliferative disorder(115;0.00878)	853					B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.2557G>A	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.682681	0.29872	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.66815	-0.23;-0.23;-0.23	5.3	5.3	0.74995	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology domain (1);	0.379178	0.28883	N	0.013840	T	0.39036	0.1063	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.11235	0.004;0.001;0.003;0.003	B;B;B;B	0.11329	0.006;0.002;0.0;0.003	T	0.24905	-1.0147	10	0.46703	T	0.11	.	9.9819	0.41819	0.1197:0.0:0.8803:0.0	.	853;429;853;853	P19174-2;B4DMA3;P19174;A2A284	.;.;PLCG1_HUMAN;.	M	853	ENSP00000244007:V853M;ENSP00000362368:V853M;ENSP00000362369:V853M	ENSP00000244007:V853M	V	+	1	0	PLCG1	39231206	0.000000	0.05858	0.309000	0.25155	0.935000	0.57460	0.911000	0.28584	2.757000	0.94681	0.655000	0.94253	GTG		0.587	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		22	30	0	0	0	1	0	22	30				
LRRC47	57470	broad.mit.edu	37	1	3712512	3712512	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:3712512C>T	ENST00000378251.1	-	1	556	c.529G>A	c.(529-531)Gcg>Acg	p.A177T		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	177							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		AGGGGCAGCGCGCCGGGGCGA	0.697																																						ENST00000378251.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(529-531)Gcg>Acg		leucine rich repeat containing 47							12.0	12.0	12.0					1																	3712512		2181	4266	6447	SO:0001583	missense	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3712512C>T	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.529G>A	1.37:g.3712512C>T	ENSP00000367498:p.Ala177Thr						p.A177T	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	1	556	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	177					Q9ULN5	Missense_Mutation	SNP	ENST00000378251.1	37	c.529G>A	CCDS51.1	.	.	.	.	.	.	.	.	.	.	C	7.694	0.691751	0.15039	.	.	ENSG00000130764	ENST00000378251	T	0.42131	0.98	4.04	4.04	0.47022	.	0.281791	0.25197	N	0.032417	T	0.18676	0.0448	N	0.13140	0.3	0.25470	N	0.987833	P	0.43633	0.813	B	0.28305	0.088	T	0.10200	-1.0640	10	0.18710	T	0.47	-15.5504	11.3358	0.49503	0.0:0.8157:0.1843:0.0	.	177	Q8N1G4	LRC47_HUMAN	T	177	ENSP00000367498:A177T	ENSP00000367498:A177T	A	-	1	0	LRRC47	3702372	0.000000	0.05858	0.427000	0.26684	0.395000	0.30598	0.336000	0.19823	1.813000	0.52934	0.555000	0.69702	GCG		0.697	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		8	9	0	0	0	1	0	8	9				
TNFRSF8	943	broad.mit.edu	37	1	12144558	12144558	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:12144558G>A	ENST00000263932.2	+	2	323	c.101G>A	c.(100-102)aGc>aAc	p.S34N	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	34					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	GGAAACCCCAGCCACTACTAT	0.582																																						ENST00000263932.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(100-102)aGc>aAc		tumor necrosis factor receptor superfamily, member 8							97.0	85.0	89.0					1																	12144558		2203	4300	6503	SO:0001583	missense	943				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12144558G>A	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.101G>A	1.37:g.12144558G>A	ENSP00000263932:p.Ser34Asn					TNFRSF8_ENST00000417814.2_Intron	p.S34N	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	2	323	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	34					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.101G>A	CCDS144.1	.	.	.	.	.	.	.	.	.	.	g	1.994	-0.430965	0.04669	.	.	ENSG00000120949	ENST00000263932	T	0.27104	1.69	4.21	-0.228	0.13098	TNFR/CD27/30/40/95 cysteine-rich region (2);	1.074500	0.07195	N	0.856380	T	0.15435	0.0372	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.18561	0.022	T	0.35400	-0.9790	10	0.23891	T	0.37	-7.6208	7.2537	0.26164	0.4079:0.0:0.5921:0.0	.	34	P28908	TNR8_HUMAN	N	34	ENSP00000263932:S34N	ENSP00000263932:S34N	S	+	2	0	TNFRSF8	12067145	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.490000	0.06482	-0.013000	0.14199	0.558000	0.71614	AGC		0.582	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			37	71	0	0	0	1	0	37	71				
TARS	6897	broad.mit.edu	37	5	33461810	33461810	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:33461810G>C	ENST00000265112.3	+	14	1901	c.1590G>C	c.(1588-1590)tgG>tgC	p.W530C	TARS_ENST00000455217.2_Missense_Mutation_p.W563C|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000502553.1_Missense_Mutation_p.W530C|TARS_ENST00000541634.1_Missense_Mutation_p.W426C|TARS_ENST00000414361.2_Missense_Mutation_p.W409C	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	530					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GTGAAAAGTGGGAGTTAAACT	0.358																																						ENST00000265112.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(1588-1590)tgG>tgC		threonyl-tRNA synthetase	L-Threonine(DB00156)						107.0	110.0	109.0					5																	33461810		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33461810G>C	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1590G>C	5.37:g.33461810G>C	ENSP00000265112:p.Trp530Cys					TARS_ENST00000502553.1_Missense_Mutation_p.W530C|TARS_ENST00000455217.2_Missense_Mutation_p.W563C|TARS_ENST00000414361.2_Missense_Mutation_p.W409C|TARS_ENST00000541634.1_Missense_Mutation_p.W426C|TARS_ENST00000509410.1_3'UTR	p.W530C	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN			14	1901	+			530					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.1590G>C	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340031	0.81911	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T	0.51574	0.7;0.7;0.71	5.99	5.99	0.97316	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	M	0.90483	3.12	0.80722	D	1	P;P;P;P	0.51653	0.924;0.947;0.686;0.862	P;P;P;B	0.47786	0.515;0.557;0.49;0.417	T	0.74668	-0.3588	10	0.87932	D	0	-16.0748	20.0881	0.97803	0.0:0.0:1.0:0.0	.	409;563;426;530	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	C	530;530;426;563;409	ENSP00000424387:W530C;ENSP00000265112:W530C;ENSP00000387710:W563C	ENSP00000265112:W530C	W	+	3	0	TARS	33497567	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.996000	0.88334	2.840000	0.97914	0.655000	0.94253	TGG		0.358	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		6	141	0	0	0	1	0	6	141				
SCN1A	6323	broad.mit.edu	37	2	166848756	166848756	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:166848756G>T	ENST00000303395.4	-	26	5028	c.5029C>A	c.(5029-5031)Ctc>Atc	p.L1677I	SCN1A_ENST00000409050.1_Missense_Mutation_p.L1649I|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.L1666I|SCN1A_ENST00000423058.2_Missense_Mutation_p.L1677I			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1677					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACTAGGAAGAGTAGGAGGCCG	0.478																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(5029-5031)Ctc>Atc		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						173.0	159.0	164.0					2																	166848756		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848756G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5029C>A	2.37:g.166848756G>T	ENSP00000303540:p.Leu1677Ile					AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.L1677I|SCN1A_ENST00000409050.1_Missense_Mutation_p.L1649I|SCN1A_ENST00000375405.3_Missense_Mutation_p.L1666I|AC010127.3_ENST00000597623.1_RNA	p.L1677I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	5046	-			1677					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5029C>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699216	0.88830	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01	5.27	5.27	0.74061	.	0.000000	0.52532	D	0.000062	D	0.98855	0.9613	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99891	1.1134	10	0.87932	D	0	.	18.8986	0.92433	0.0:0.0:1.0:0.0	.	1666	P35498-2	.	I	1677;1677;1666;1649	ENSP00000407030:L1677I;ENSP00000303540:L1677I;ENSP00000364554:L1666I;ENSP00000386312:L1649I	ENSP00000303540:L1677I	L	-	1	0	SCN1A	166557002	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.635000	0.98437	2.444000	0.82710	0.650000	0.86243	CTC		0.478	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		49	81	1	0	2.64514e-33	1	3.28694e-33	49	81				
ZNF227	7770	broad.mit.edu	37	19	44739783	44739783	+	Missense_Mutation	SNP	G	G	C	rs368864844		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:44739783G>C	ENST00000313040.7	+	6	1405	c.1200G>C	c.(1198-1200)agG>agC	p.R400S	ZNF227_ENST00000589005.1_Missense_Mutation_p.R349S|ZNF227_ENST00000391961.2_Missense_Mutation_p.R349S	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	400					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)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				TTCACCAGAGGGTCCACAGGG	0.488																																						ENST00000313040.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24						c.(1198-1200)agG>agC		zinc finger protein 227							76.0	82.0	80.0					19																	44739783		2203	4300	6503	SO:0001583	missense	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44739783G>C	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.1200G>C	19.37:g.44739783G>C	ENSP00000321049:p.Arg400Ser					ZNF227_ENST00000589005.1_Missense_Mutation_p.R349S|ZNF227_ENST00000391961.2_Missense_Mutation_p.R349S	p.R400S	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN			6	1405	+		Prostate(69;0.0435)	400					B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	c.1200G>C	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308833	0.60305	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.02395	4.31;4.31	4.54	1.99	0.26369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11196	0.0273	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.996	D;D;D;P	0.91635	0.965;0.998;0.999;0.9	T	0.01480	-1.1344	9	0.72032	D	0.01	.	6.6435	0.22923	0.3293:0.0:0.6707:0.0	.	321;379;352;400	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	S	400;357;349;379;101	ENSP00000321049:R400S;ENSP00000375823:R349S	ENSP00000321049:R400S	R	+	3	2	ZNF227	49431623	0.000000	0.05858	1.000000	0.80357	0.985000	0.73830	-0.132000	0.10467	1.028000	0.39785	-0.253000	0.11424	AGG		0.488	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		12	51	0	0	0	1	0	12	51				
MCM4	4173	broad.mit.edu	37	8	48882512	48882512	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:48882512G>C	ENST00000262105.2	+	10	1538	c.1329G>C	c.(1327-1329)gaG>gaC	p.E443D	MCM4_ENST00000523944.1_Missense_Mutation_p.E443D|MCM4_ENST00000518680.1_3'UTR	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	443					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TTTTTTCAGAGAAACGTGTGG	0.403																																						ENST00000262105.2																			0				biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44						c.(1327-1329)gaG>gaC		minichromosome maintenance complex component 4							137.0	136.0	137.0					8																	48882512		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48882512G>C		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1329G>C	8.37:g.48882512G>C	ENSP00000262105:p.Glu443Asp					MCM4_ENST00000523944.1_Missense_Mutation_p.E443D|MCM4_ENST00000518680.1_3'UTR	p.E443D	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN			10	1538	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	443					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.1329G>C	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861365	0.32884	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000520637	T;T;T	0.08720	4.03;4.03;3.06	6.17	3.42	0.39159	.	0.133315	0.64402	D	0.000002	T	0.07954	0.0199	L	0.47716	1.5	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.13407	0.009;0.003	T	0.19516	-1.0303	10	0.22706	T	0.39	-41.817	9.293	0.37797	0.3283:0.0:0.6717:0.0	.	443;443	B3KMX0;P33991	.;MCM4_HUMAN	D	443;443;430;403;161	ENSP00000430194:E443D;ENSP00000262105:E443D;ENSP00000427875:E161D	ENSP00000262105:E443D	E	+	3	2	MCM4	49045065	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.572000	0.23684	0.944000	0.37579	0.655000	0.94253	GAG		0.403	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		5	190	0	0	0	1	0	5	190				
PKD1	5310	broad.mit.edu	37	16	2139988	2139988	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:2139988C>G	ENST00000262304.4	-	46	12860	c.12652G>C	c.(12652-12654)Gtg>Ctg	p.V4218L	MIR1225_ENST00000408729.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.V4217L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4218					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCTCGAACACGGCTTGGAGG	0.672																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(12652-12654)Gtg>Ctg		polycystic kidney disease 1 (autosomal dominant)							28.0	27.0	27.0					16																	2139988		2192	4293	6485	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2139988C>G	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.12652G>C	16.37:g.2139988C>G	ENSP00000262304:p.Val4218Leu					PKD1_ENST00000423118.1_Missense_Mutation_p.V4217L	p.V4218L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			46	12860	-			4218					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.12652G>C	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	9.089	1.001308	0.19121	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.36157	1.27;1.27	4.88	2.92	0.33932	.	0.246661	0.33110	N	0.005274	T	0.31702	0.0805	L	0.57536	1.79	0.25235	N	0.989796	B;B	0.25105	0.014;0.118	B;B	0.30316	0.003;0.114	T	0.17592	-1.0364	10	0.31617	T	0.26	.	6.8016	0.23754	0.0:0.6292:0.1945:0.1763	.	4217;4218	P98161-3;P98161	.;PKD1_HUMAN	L	4218;4217;3552	ENSP00000262304:V4218L;ENSP00000399501:V4217L	ENSP00000262304:V4218L	V	-	1	0	PKD1	2079989	0.993000	0.37304	0.649000	0.29536	0.915000	0.54546	2.917000	0.48821	1.044000	0.40200	0.491000	0.48974	GTG		0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	19	0	0	0	1	0	4	19				
PPP2CB	5516	broad.mit.edu	37	8	30657110	30657110	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:30657110G>C	ENST00000221138.4	-	2	714	c.264C>G	c.(262-264)gaC>gaG	p.D88E	PPP2CB_ENST00000518564.1_Intron|PPP2CB_ENST00000520500.1_5'UTR	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	88					apoptotic mitochondrial changes (GO:0008637)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of Ras protein signal transduction (GO:0046580)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|regulation of gene expression (GO:0010468)|response to antibiotic (GO:0046677)|response to endoplasmic reticulum stress (GO:0034976)|response to hydrogen peroxide (GO:0042542)	chromosome, centromeric region (GO:0000775)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	AATATCCTCTGTCTACATAGT	0.348																																						ENST00000221138.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9						c.(262-264)gaC>gaG		protein phosphatase 2, catalytic subunit, beta isozyme	Vitamin E(DB00163)						124.0	124.0	124.0					8																	30657110		2203	4300	6503	SO:0001583	missense	5516				protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding	g.chr8:30657110G>C		CCDS6079.1	8p12	2011-05-24	2010-03-05		ENSG00000104695	ENSG00000104695	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9300	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, beta isoform"""	176916	"""protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform"""			8383590	Standard	NM_001009552		Approved	PP2Abeta	uc003xik.3	P62714	OTTHUMG00000163949	ENST00000221138.4:c.264C>G	8.37:g.30657110G>C	ENSP00000221138:p.Asp88Glu					PPP2CB_ENST00000520500.1_5'UTR|PPP2CB_ENST00000518564.1_Intron	p.D88E	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	2	714	-			88					D3DSV4|P11082|Q6FHK5	Missense_Mutation	SNP	ENST00000221138.4	37	c.264C>G	CCDS6079.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200025	0.79015	.	.	ENSG00000104695	ENST00000221138;ENST00000406655;ENST00000518243;ENST00000520056	T;T;T	0.17054	2.3;2.3;2.3	4.47	4.47	0.54385	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	H	0.99981	5.2	0.58432	D	0.999998	D	0.76494	0.999	D	0.74348	0.983	T	0.75593	-0.3264	10	0.87932	D	0	-11.4846	8.4213	0.32703	0.1796:0.0:0.8204:0.0	.	88	P62714	PP2AB_HUMAN	E	88;88;41;23	ENSP00000221138:D88E;ENSP00000428618:D41E;ENSP00000428866:D23E	ENSP00000221138:D88E	D	-	3	2	PPP2CB	30776652	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.759000	0.68785	2.165000	0.68154	0.655000	0.94253	GAC		0.348	PPP2CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376527.2	NM_001009552		11	149	0	0	0	1	0	11	149				
IGHV4-4	28401	broad.mit.edu	37	14	106478336	106478336	+	RNA	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:106478336C>A	ENST00000390596.2	-	0	185									immunoglobulin heavy variable 4-4																		AGAGACAGTGCAGGTGAGGGA	0.612																																						ENST00000390596.2																			0																				43.0	29.0	33.0					14																	106478336		1832	3940	5772			28401							g.chr14:106478336C>A	X62112		14q32.33	2012-02-08			ENSG00000211936	ENSG00000276775		"""Immunoglobulins / IGH locus"""	5652	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152322		14.37:g.106478336C>A														0	185	-									RNA	SNP	ENST00000390596.2	37																																																																																						0.612	IGHV4-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325884.1	NG_001019		12	89	1	0	6.31663e-08	1	6.89349e-08	12	89				
KDM5B	10765	broad.mit.edu	37	1	202724560	202724560	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:202724560C>A	ENST00000367265.3	-	11	2541	c.1377G>T	c.(1375-1377)tgG>tgT	p.W459C	KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Missense_Mutation_p.W495C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	459	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TGTTCAAATTCCAGCCACTAT	0.378																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(1375-1377)tgG>tgT		lysine (K)-specific demethylase 5B							101.0	107.0	105.0					1																	202724560		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202724560C>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1377G>T	1.37:g.202724560C>A	ENSP00000356234:p.Trp459Cys					KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Missense_Mutation_p.W495C	p.W459C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			11	2541	-			459			JmjC.		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.1377G>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653688	0.88056	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.70631	-0.5;-0.5;-0.5	5.73	5.73	0.89815	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.90287	0.6962	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.957;1.0	D	0.92929	0.6362	10	0.87932	D	0	-13.5371	19.9036	0.96999	0.0:1.0:0.0:0.0	.	495;459	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	C	459;301;495;301	ENSP00000356234:W459C;ENSP00000356233:W495C;ENSP00000235790:W301C	ENSP00000235790:W301C	W	-	3	0	KDM5B	200991183	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.706000	0.92434	0.655000	0.94253	TGG		0.378	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		5	92	1	0	0.00307968	1	0.00318174	5	92				
NRCAM	4897	broad.mit.edu	37	7	107880477	107880477	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:107880477C>A	ENST00000425651.2	-	1	31	c.32G>T	c.(31-33)cGc>cTc	p.R11L	NRCAM_ENST00000413765.2_Missense_Mutation_p.R11L|NRCAM_ENST00000379028.3_Missense_Mutation_p.R11L|NRCAM_ENST00000379024.4_Missense_Mutation_p.R11L|NRCAM_ENST00000351718.4_Missense_Mutation_p.R11L|NRCAM_ENST00000379022.4_Missense_Mutation_p.R11L	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	11					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CGCAGATAAGCGCTTCTTTTT	0.408																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(31-33)cGc>cTc		neuronal cell adhesion molecule							125.0	125.0	125.0					7																	107880477		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107880477C>A		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.32G>T	7.37:g.107880477C>A	ENSP00000401244:p.Arg11Leu					NRCAM_ENST00000379022.4_Missense_Mutation_p.R11L|NRCAM_ENST00000351718.4_Missense_Mutation_p.R11L|NRCAM_ENST00000425651.2_Missense_Mutation_p.R11L|NRCAM_ENST00000379024.4_Missense_Mutation_p.R11L|NRCAM_ENST00000413765.2_Missense_Mutation_p.R11L	p.R11L			Q92823	NRCAM_HUMAN			4	502	-			11					A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.32G>T	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691325	0.48097	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701;ENST00000442580;ENST00000419936;ENST00000456431;ENST00000418239	T;T;T;T;T;T;T;T;T;T	0.74315	0.41;0.65;0.39;0.41;0.41;0.43;-0.22;-0.83;-0.83;-0.83	5.87	1.01	0.19927	.	0.615342	0.18053	N	0.153219	T	0.56863	0.2014	N	0.03608	-0.345	0.21627	N	0.999613	B;B;B;B;B	0.19706	0.038;0.021;0.022;0.038;0.022	B;B;B;B;B	0.43536	0.423;0.068;0.049;0.057;0.031	T	0.54820	-0.8236	10	0.10111	T	0.7	.	8.6618	0.34097	0.0:0.6881:0.1058:0.2061	.	11;11;11;11;11	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	L	11	ENSP00000368314:R11L;ENSP00000407858:R11L;ENSP00000325269:R11L;ENSP00000368310:R11L;ENSP00000401244:R11L;ENSP00000368308:R11L;ENSP00000390421:R11L;ENSP00000390868:R11L;ENSP00000397544:R11L;ENSP00000408203:R11L	ENSP00000325269:R11L	R	-	2	0	NRCAM	107667713	0.303000	0.24463	0.618000	0.29105	0.996000	0.88848	0.542000	0.23222	-0.020000	0.14032	0.655000	0.94253	CGC		0.408	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		25	43	1	0	9.39395e-14	1	1.08462e-13	25	43				
UNC5C	8633	broad.mit.edu	37	4	96163590	96163590	+	Silent	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:96163590A>G	ENST00000453304.1	-	7	1446	c.1098T>C	c.(1096-1098)ctT>ctC	p.L366L	UNC5C_ENST00000506749.1_Silent_p.L366L	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	366	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCTGCATGCAAAGCCCATCAG	0.498																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1096-1098)ctT>ctC		unc-5 homolog C (C. elegans)							62.0	53.0	56.0					4																	96163590		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96163590A>G	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1098T>C	4.37:g.96163590A>G						UNC5C_ENST00000506749.1_Silent_p.L366L	p.L366L	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	7	1446	-		Hepatocellular(203;0.114)	366			TSP type-1 2.		Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.1098T>C	CCDS3643.1																																																																																				0.498	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		10	19	0	0	0	1	0	10	19				
DLGAP4	22839	broad.mit.edu	37	20	35060693	35060693	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:35060693G>C	ENST00000373907.2	+	2	772	c.573G>C	c.(571-573)ggG>ggC	p.G191G	DLGAP4_ENST00000373913.3_Silent_p.G191G|DLGAP4_ENST00000339266.5_Silent_p.G191G|DLGAP4_ENST00000401952.2_Silent_p.G191G			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	191					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCAAGGCTGGGGAGCCCAAAC	0.677																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(571-573)ggG>ggC		discs, large (Drosophila) homolog-associated protein 4							34.0	45.0	41.0					20																	35060693		2203	4300	6503	SO:0001819	synonymous_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060693G>C	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.573G>C	20.37:g.35060693G>C						DLGAP4_ENST00000401952.2_Silent_p.G191G|DLGAP4_ENST00000339266.5_Silent_p.G191G|DLGAP4_ENST00000373907.2_Silent_p.G191G	p.G191G			Q9Y2H0	DLGP4_HUMAN			3	1053	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	191					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37	c.573G>C																																																																																					0.677	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		4	52	0	0	0	1	0	4	52				
KL	9365	broad.mit.edu	37	13	33591149	33591149	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:33591149C>G	ENST00000380099.3	+	1	579	c.571C>G	c.(571-573)Ctg>Gtg	p.L191V	KL_ENST00000426690.2_Intron|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	191	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CGTGGTCACCCTGTACCACTG	0.726																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(571-573)Ctg>Gtg		klotho							7.0	7.0	7.0					13																	33591149		2041	4034	6075	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33591149C>G	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.571C>G	13.37:g.33591149C>G	ENSP00000369442:p.Leu191Val					KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	p.L191V	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	1	579	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	191			Glycosyl hydrolase-1 1.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.571C>G	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327374	0.60743	.	.	ENSG00000133116	ENST00000380099	T	0.53857	0.6	4.05	2.31	0.28768	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000001	T	0.73628	0.3611	M	0.90650	3.135	0.53688	D	0.999973	D	0.76494	0.999	D	0.75484	0.986	T	0.75294	-0.3368	10	0.87932	D	0	-13.5109	9.777	0.40626	0.0:0.8294:0.0:0.1706	.	191	Q9UEF7	KLOT_HUMAN	V	191	ENSP00000369442:L191V	ENSP00000369442:L191V	L	+	1	2	KL	32489149	0.976000	0.34144	0.995000	0.50966	0.855000	0.48748	2.471000	0.45127	0.375000	0.24679	-0.379000	0.06801	CTG		0.726	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			3	12	0	0	0	1	0	3	12				
MEP1A	4224	broad.mit.edu	37	6	46800830	46800830	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:46800830G>C	ENST00000230588.4	+	11	1173	c.1164G>C	c.(1162-1164)tgG>tgC	p.W388C		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	388	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W388C(1)|p.W388*(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ACCACAATTGGAAAATTGCCC	0.463																																						ENST00000230588.4																			2	Substitution - Missense(1)|Substitution - Nonsense(1)	p.W388C(1)|p.W388*(1)	lung(1)|kidney(1)	NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1162-1164)tgG>tgC		meprin A, alpha (PABA peptide hydrolase)							92.0	92.0	92.0					6																	46800830		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46800830G>C		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1164G>C	6.37:g.46800830G>C	ENSP00000230588:p.Trp388Cys						p.W388C	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		11	1173	+			388			MAM.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.1164G>C	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123649	0.56613	.	.	ENSG00000112818	ENST00000230588	T	0.54071	0.59	5.57	5.57	0.84162	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.79873	0.4521	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85642	0.1277	10	0.87932	D	0	-13.7877	19.5623	0.95376	0.0:0.0:1.0:0.0	.	416;388	B7ZL91;Q16819	.;MEP1A_HUMAN	C	388	ENSP00000230588:W388C	ENSP00000230588:W388C	W	+	3	0	MEP1A	46908789	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	9.869000	0.99810	2.619000	0.88677	0.650000	0.86243	TGG		0.463	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		10	93	0	0	0	1	0	10	93				
TTN	7273	broad.mit.edu	37	2	179437943	179437943	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179437943T>C	ENST00000591111.1	-	276	68217	c.67993A>G	c.(67993-67995)Agt>Ggt	p.S22665G	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S21738G|TTN_ENST00000342175.6_Missense_Mutation_p.S15433G|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S24306G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S15366G|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S15241G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22665	Fibronectin type-III 64. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGGTGCACTAATTCCAGCA	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(72916-72918)Agt>Ggt		titin							115.0	113.0	113.0					2																	179437943		1915	4140	6055	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179437943T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67993A>G	2.37:g.179437943T>C	ENSP00000465570:p.Ser22665Gly					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S21738G|TTN_ENST00000460472.2_Missense_Mutation_p.S15241G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S15433G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S15366G|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S22665G|TTN-AS1_ENST00000590807.1_RNA	p.S24306G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	73140	-			22665			Fibronectin type-III 76.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.72916A>G		.	.	.	.	.	.	.	.	.	.	T	12.04	1.819428	0.32145	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	6.08	6.08	0.98989	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28599	0.0708	N	0.12182	0.205	0.58432	D	0.999998	B;B;B;B	0.17038	0.02;0.02;0.02;0.02	B;B;B;B	0.22601	0.04;0.04;0.04;0.04	T	0.10132	-1.0643	9	0.87932	D	0	.	12.448	0.55662	0.0:0.0666:0.0:0.9334	.	15241;15366;15433;22665	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	21738;15241;15433;15366;15239	ENSP00000343764:S21738G;ENSP00000434586:S15241G;ENSP00000340554:S15433G;ENSP00000352154:S15366G	ENSP00000340554:S15433G	S	-	1	0	TTN	179146189	1.000000	0.71417	0.973000	0.42090	0.997000	0.91878	6.303000	0.72794	2.333000	0.79357	0.533000	0.62120	AGT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	60	0	0	0	1	0	34	60				
BMX	660	broad.mit.edu	37	X	15548116	15548116	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:15548116C>T	ENST00000357607.2	+	10	1093	c.905C>T	c.(904-906)tCc>tTc	p.S302F	BMX_ENST00000342014.6_Missense_Mutation_p.S302F|BMX_ENST00000348343.6_Missense_Mutation_p.S302F			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	302	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GGTAACATCTCCAGATCACAA	0.353																																						ENST00000357607.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(904-906)tCc>tTc		BMX non-receptor tyrosine kinase							86.0	79.0	81.0					X																	15548116		2203	4300	6503	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15548116C>T	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.905C>T	X.37:g.15548116C>T	ENSP00000350224:p.Ser302Phe					BMX_ENST00000348343.6_Missense_Mutation_p.S302F|BMX_ENST00000342014.6_Missense_Mutation_p.S302F	p.S302F			P51813	BMX_HUMAN			10	1093	+	Hepatocellular(33;0.183)		302			SH2.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.905C>T	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420223	0.62622	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.32988	1.43;1.43;1.43	5.03	5.03	0.67393	SH2 motif (5);	0.106330	0.42548	D	0.000685	T	0.64394	0.2594	H	0.94886	3.595	0.40211	D	0.977628	D	0.62365	0.991	D	0.64877	0.93	T	0.76570	-0.2911	10	0.87932	D	0	.	14.3032	0.66368	0.0:1.0:0.0:0.0	.	302	P51813	BMX_HUMAN	F	302	ENSP00000350224:S302F;ENSP00000308774:S302F;ENSP00000340082:S302F	ENSP00000340082:S302F	S	+	2	0	BMX	15458037	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	2.368000	0.44222	2.204000	0.70986	0.600000	0.82982	TCC		0.353	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		10	18	0	0	0	1	0	10	18				
GOSR2	9570	broad.mit.edu	37	17	45017945	45017945	+	IGR	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:45017945C>G	ENST00000393456.2	+	0	847				RP11-156P1.2_ENST00000571841.1_Intron|GOSR2_ENST00000439730.2_Intron|GOSR2_ENST00000225567.4_Missense_Mutation_p.A203G	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			TGCCAGACAGCACACTTTGGA	0.557											OREG0024493	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000225567.4																			0				kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7						c.(607-609)gCa>gGa		golgi SNAP receptor complex member 2							147.0	135.0	139.0					17																	45017945		2203	4300	6503	SO:0001628	intergenic_variant	9570				cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity	g.chr17:45017945C>G	AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653			17.37:g.45017945C>G			OREG0024493	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	928	RP11-156P1.2_ENST00000571841.1_Intron|GOSR2_ENST00000439730.2_Intron	p.A203G	NM_054022.2	NP_473363.1	O14653	GOSR2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.102)		7	639	+			0					D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Missense_Mutation	SNP	ENST00000393456.2	37	c.608C>G	CCDS42355.1	.	.	.	.	.	.	.	.	.	.	C	9.241	1.038197	0.19669	.	.	ENSG00000108433	ENST00000225567	T	0.66638	-0.22	3.96	-3.89	0.04193	.	0.917730	0.09396	N	0.807885	T	0.53222	0.1783	.	.	.	0.09310	N	1	B	0.18741	0.03	B	0.19391	0.025	T	0.49670	-0.8915	9	0.87932	D	0	.	10.1077	0.42544	0.0:0.278:0.0:0.722	.	203	O14653-2	.	G	203	ENSP00000225567:A203G	ENSP00000225567:A203G	A	+	2	0	GOSR2	42372944	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.538000	0.06120	-0.750000	0.04740	-0.258000	0.10820	GCA		0.557	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1			8	117	0	0	0	1	0	8	117				
CYB5R3	1727	broad.mit.edu	37	22	43032843	43032843	+	Missense_Mutation	SNP	T	T	C	rs147001900	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:43032843T>C	ENST00000352397.5	-	2	283	c.31A>G	c.(31-33)Atg>Gtg	p.M11V	CYB5R3_ENST00000402438.1_De_novo_Start_OutOfFrame|CYB5R3_ENST00000396303.3_De_novo_Start_OutOfFrame|CYB5R3_ENST00000407623.3_De_novo_Start_OutOfFrame|CYB5R3_ENST00000407332.1_De_novo_Start_OutOfFrame|CYB5R3_ENST00000361740.4_Missense_Mutation_p.M44V	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	11					blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	AAGAGCACCATATGGCCCAAC	0.602													C|||	12	0.00239617	0.0	0.0	5008	,	,		17962	0.0119		0.0	False		,,,				2504	0.0					ENST00000396303.3																			0				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6								cytochrome b5 reductase 3	NADH(DB00157)						72.0	61.0	65.0					22																	43032843		2203	4300	6503	SO:0001583	missense	1727				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity	g.chr22:43032843T>C	M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"""diaphorase (NADH) (cytochrome b-5 reductase)"""	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.31A>G	22.37:g.43032843T>C	ENSP00000338461:p.Met11Val					CYB5R3_ENST00000402438.1_De_novo_Start_OutOfFrame|CYB5R3_ENST00000352397.5_Missense_Mutation_p.M11V|CYB5R3_ENST00000361740.4_Missense_Mutation_p.M44V|CYB5R3_ENST00000407623.3_De_novo_Start_OutOfFrame|CYB5R3_ENST00000407332.1_De_novo_Start_OutOfFrame		NM_001171661.1|NM_007326.4	NP_001165132.1|NP_015565.1	P00387	NB5R3_HUMAN			0	113	-								B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Translation_Start_Site	SNP	ENST00000352397.5	37		CCDS33658.1	9	0.004120879120879121	0	0.0	0	0.0	9	0.015734265734265736	0	0.0	C	0.958	-0.704057	0.03255	.	.	ENSG00000100243	ENST00000361740;ENST00000352397	D;D	0.85702	-2.02;-1.98	4.96	2.75	0.32379	.	0.386786	0.25291	N	0.031726	T	0.35278	0.0926	N	0.00926	-1.1	0.52501	D	0.999959	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.51865	-0.8651	10	0.02654	T	1	-14.0184	3.1167	0.06377	0.1918:0.5259:0.0:0.2822	.	44;11	B7Z7L3;P00387	.;NB5R3_HUMAN	V	44;11	ENSP00000354468:M44V;ENSP00000338461:M11V	ENSP00000338461:M11V	M	-	1	0	CYB5R3	41362787	0.089000	0.21612	0.904000	0.35570	0.897000	0.52465	0.326000	0.19646	1.232000	0.43678	-0.349000	0.07799	ATG		0.602	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1			11	24	0	0	0	1	0	11	24				
ALKBH3	221120	broad.mit.edu	37	11	43905554	43905554	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:43905554C>A	ENST00000302708.4	+	4	616	c.205C>A	c.(205-207)Cca>Aca	p.P69T	ALKBH3_ENST00000532410.1_3'UTR|ALKBH3_ENST00000378840.4_Missense_Mutation_p.P69T	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	69					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	AGCTCCTGAGCCACGAGTGAT	0.423								Direct reversal of damage																														ENST00000302708.4																			0				endometrium(2)|kidney(1)|lung(4)|prostate(1)	8						c.(205-207)Cca>Aca	Direct reversal of damage	alkB, alkylation repair homolog 3 (E. coli)	Vitamin C(DB00126)						270.0	237.0	248.0					11																	43905554		2203	4300	6503	SO:0001583	missense	221120				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:43905554C>A	AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"""Alkylation repair homologs"""	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.205C>A	11.37:g.43905554C>A	ENSP00000302232:p.Pro69Thr					ALKBH3_ENST00000532410.1_3'UTR|ALKBH3_ENST00000378840.4_Missense_Mutation_p.P69T	p.P69T	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN			4	616	+			69					A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Missense_Mutation	SNP	ENST00000302708.4	37	c.205C>A	CCDS7906.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991372	0.54041	.	.	ENSG00000166199	ENST00000302708;ENST00000378840;ENST00000529366	T;T	0.44482	1.93;0.92	5.52	5.52	0.82312	.	0.283676	0.40144	N	0.001164	T	0.42988	0.1227	M	0.76574	2.34	0.37167	D	0.902843	P	0.44627	0.839	B	0.36719	0.231	T	0.55698	-0.8100	10	0.40728	T	0.16	-11.2808	15.2891	0.73852	0.0:1.0:0.0:0.0	.	69	Q96Q83	ALKB3_HUMAN	T	69	ENSP00000302232:P69T;ENSP00000435848:P69T	ENSP00000302232:P69T	P	+	1	0	ALKBH3	43862130	0.852000	0.29690	1.000000	0.80357	0.784000	0.44337	2.238000	0.43070	2.767000	0.95098	0.655000	0.94253	CCA		0.423	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389693.1	NM_139178		11	164	1	0	2.80697e-09	1	3.12516e-09	11	164				
F2R	2149	broad.mit.edu	37	5	76028555	76028555	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:76028555C>G	ENST00000319211.4	+	2	770	c.505C>G	c.(505-507)Cag>Gag	p.Q169E		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	169					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CAGTGATTGGCAGTTTGGGTC	0.498																																						ENST00000319211.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16						c.(505-507)Cag>Gag		coagulation factor II (thrombin) receptor	Streptokinase(DB00086)						200.0	199.0	200.0					5																	76028555		2203	4300	6503	SO:0001583	missense	2149				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	g.chr5:76028555C>G	M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.505C>G	5.37:g.76028555C>G	ENSP00000321326:p.Gln169Glu						p.Q169E	NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN		all cancers(79;4.43e-43)	2	770	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)	169					Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	c.505C>G	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	C	5.951	0.359402	0.11239	.	.	ENSG00000181104	ENST00000319211	T	0.36340	1.26	4.89	-1.6	0.08426	GPCR, rhodopsin-like superfamily (1);	0.648881	0.16176	N	0.226048	T	0.21267	0.0512	N	0.20986	0.625	0.80722	D	1	B	0.14805	0.011	B	0.14023	0.01	T	0.06144	-1.0843	10	0.32370	T	0.25	-1.2308	10.5344	0.44996	0.1751:0.721:0.1038:0.0	.	169	P25116	PAR1_HUMAN	E	169	ENSP00000321326:Q169E	ENSP00000321326:Q169E	Q	+	1	0	F2R	76064311	0.004000	0.15560	0.271000	0.24616	0.461000	0.32589	0.124000	0.15728	-0.138000	0.11434	-0.268000	0.10319	CAG		0.498	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			82	168	0	0	0	1	0	82	168				
ZDHHC6	64429	broad.mit.edu	37	10	114200423	114200423	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:114200423C>G	ENST00000369405.3	-	5	973	c.550G>C	c.(550-552)Gac>Cac	p.D184H	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.D180H	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	184					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		GCACTCATGTCGATCTTCACT	0.463																																						ENST00000369405.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(550-552)Gac>Cac		zinc finger, DHHC-type containing 6							151.0	133.0	140.0					10																	114200423		2203	4300	6503	SO:0001583	missense	64429					integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:114200423C>G	AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"""Zinc fingers, DHHC-type"""	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.550G>C	10.37:g.114200423C>G	ENSP00000358413:p.Asp184His					ZDHHC6_ENST00000369404.3_Missense_Mutation_p.D180H	p.D184H	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN		Epithelial(162;0.0291)|all cancers(201;0.117)	5	973	-		Colorectal(252;0.198)	184					D3DRB6|Q53G45|Q96IV7|Q9H605	Missense_Mutation	SNP	ENST00000369405.3	37	c.550G>C	CCDS7574.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243769	0.79912	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	T;T	0.24151	1.87;1.87	6.07	6.07	0.98685	.	0.045994	0.85682	D	0.000000	T	0.47619	0.1455	L	0.45470	1.425	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.71870	0.933;0.975	T	0.21861	-1.0233	10	0.59425	D	0.04	-7.5846	20.6452	0.99591	0.0:1.0:0.0:0.0	.	180;184	Q9H6R6-2;Q9H6R6	.;ZDHC6_HUMAN	H	184;180	ENSP00000358413:D184H;ENSP00000358412:D180H	ENSP00000358412:D180H	D	-	1	0	ZDHHC6	114190413	1.000000	0.71417	0.977000	0.42913	0.871000	0.50021	6.031000	0.70911	2.885000	0.99019	0.650000	0.86243	GAC		0.463	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050393.1	NM_022494		19	81	0	0	0	1	0	19	81				
BCORL1	63035	broad.mit.edu	37	X	129156925	129156925	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:129156925C>G	ENST00000218147.7	+	6	3858	c.3661C>G	c.(3661-3663)Ctg>Gtg	p.L1221V	BCORL1_ENST00000359304.2_Missense_Mutation_p.L1221V|BCORL1_ENST00000303743.5_Missense_Mutation_p.L1221V|BCORL1_ENST00000540052.1_Missense_Mutation_p.L1221V			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1221					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCCTGTGGTTCTGAGCACCCG	0.483																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(3661-3663)Ctg>Gtg		BCL6 corepressor-like 1							175.0	148.0	157.0					X																	129156925		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129156925C>G	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3661C>G	X.37:g.129156925C>G	ENSP00000218147:p.Leu1221Val					BCORL1_ENST00000218147.7_Missense_Mutation_p.L1221V|BCORL1_ENST00000359304.2_Missense_Mutation_p.L1221V|BCORL1_ENST00000303743.5_Missense_Mutation_p.L1221V	p.L1221V	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			5	3705	+			1221					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3661C>G	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.57|18.57	3.653208|3.653208	0.67472|0.67472	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294	T;T;T;T;T|.	0.55930|.	0.49;0.86;0.78;0.49;0.95|.	5.88|5.88	4.09|4.09	0.47781|0.47781	.|.	0.000000|.	0.27437|.	N|.	0.019377|.	T|T	0.43478|0.43478	0.1249|0.1249	L|L	0.27053|0.27053	0.805|0.805	0.36406|0.36406	D|D	0.8634|0.8634	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.78314|.	0.99;0.991|.	T|T	0.47837|0.47837	-0.9086|-0.9086	10|5	0.28530|.	T|.	0.3|.	-9.9238|-9.9238	9.4801|9.4801	0.38895|0.38895	0.0:0.7754:0.0:0.2246|0.0:0.7754:0.0:0.2246	.|.	1221;1221|.	Q5H9F3-2;Q5H9F3|.	.;BCORL_HUMAN|.	V|C	1221;1221;1221;1221;821|656	ENSP00000218147:L1221V;ENSP00000307541:L1221V;ENSP00000352253:L1221V;ENSP00000437775:L1221V;ENSP00000399483:L821V|.	ENSP00000218147:L1221V|.	L|S	+|+	1|2	2|0	BCORL1|BCORL1	128984606|128984606	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.881000|1.881000	0.39638|0.39638	1.224000|1.224000	0.43551|0.43551	0.600000|0.600000	0.82982|0.82982	CTG|TCT		0.483	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		13	148	0	0	0	1	0	13	148				
KCNV1	27012	broad.mit.edu	37	8	110984547	110984547	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:110984547C>G	ENST00000524391.1	-	3	1963	c.931G>C	c.(931-933)Gtc>Ctc	p.V311L	KCNV1_ENST00000297404.1_Missense_Mutation_p.V311L|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	311					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AACACCTGGACAATGCGCCCC	0.527																																						ENST00000524391.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(931-933)Gtc>Ctc		potassium channel, subfamily V, member 1							88.0	76.0	80.0					8																	110984547		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984547C>G	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.931G>C	8.37:g.110984547C>G	ENSP00000435954:p.Val311Leu					KCNV1_ENST00000297404.1_Missense_Mutation_p.V311L	p.V311L			Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		3	1963	-	all_neural(195;0.219)		311					Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.931G>C	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495036	0.85069	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97888	-4.59;-4.59	5.95	5.95	0.96441	Ion transport (1);	0.127686	0.51477	D	0.000091	D	0.90964	0.7159	N	0.01134	-0.995	0.58432	D	0.999992	B	0.24132	0.098	B	0.27500	0.08	D	0.88134	0.2840	10	0.11182	T	0.66	.	19.3629	0.94448	0.0:1.0:0.0:0.0	.	311	Q6PIU1	KCNV1_HUMAN	L	311;311;187	ENSP00000435954:V311L;ENSP00000297404:V311L	ENSP00000297404:V311L	V	-	1	0	KCNV1	111053723	1.000000	0.71417	0.978000	0.43139	0.917000	0.54804	4.890000	0.63178	2.817000	0.96982	0.563000	0.77884	GTC		0.527	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		14	46	0	0	0	1	0	14	46				
TMPRSS11D	9407	broad.mit.edu	37	4	68708314	68708314	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:68708314T>G	ENST00000283916.6	-	4	377	c.279A>C	c.(277-279)ttA>ttC	p.L93F	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_5'UTR	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	93	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACTGATTTCTTAAATTTGATT	0.348																																						ENST00000283916.6																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(277-279)ttA>ttC		transmembrane protease, serine 11D							83.0	86.0	85.0					4																	68708314		2203	4300	6503	SO:0001583	missense	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68708314T>G	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.279A>C	4.37:g.68708314T>G	ENSP00000283916:p.Leu93Phe					RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_5'UTR	p.L93F	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN			4	377	-			93			SEA.		Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	c.279A>C	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.303809	0.60305	.	.	ENSG00000153802	ENST00000283916	T	0.46819	0.86	5.3	1.61	0.23674	SEA (3);	0.000000	0.45361	D	0.000377	T	0.61640	0.2363	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58618	-0.7605	10	0.51188	T	0.08	.	6.4238	0.21758	0.0:0.285:0.0:0.715	.	93	O60235	TM11D_HUMAN	F	93	ENSP00000283916:L93F	ENSP00000283916:L93F	L	-	3	2	TMPRSS11D	68390909	1.000000	0.71417	0.895000	0.35142	0.804000	0.45430	0.930000	0.28858	0.423000	0.26033	0.533000	0.62120	TTA		0.348	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		12	19	0	0	0	1	0	12	19				
DSP	1832	broad.mit.edu	37	6	7583099	7583099	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:7583099G>C	ENST00000379802.3	+	24	5945	c.5604G>C	c.(5602-5604)aaG>aaC	p.K1868N	DSP_ENST00000418664.2_Missense_Mutation_p.K1269N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1868	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCAGTGGAAGACTCAATATT	0.448																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(5602-5604)aaG>aaC		desmoplakin							81.0	84.0	83.0					6																	7583099		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583099G>C	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5604G>C	6.37:g.7583099G>C	ENSP00000369129:p.Lys1868Asn					DSP_ENST00000418664.2_Missense_Mutation_p.K1269N	p.K1868N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	5945	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1868			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.5604G>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207594	0.39003	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.64991	-0.13;-0.13	5.38	-1.22	0.09494	.	0.000000	0.64402	D	0.000008	T	0.51686	0.1689	L	0.40543	1.245	0.21950	N	0.999451	D;D	0.89917	0.999;1.0	D;D	0.83275	0.995;0.996	T	0.58674	-0.7595	10	0.30078	T	0.28	.	11.9261	0.52820	0.4721:0.0:0.5279:0.0	.	1316;1868	Q4LE79;P15924	.;DESP_HUMAN	N	1868;1269	ENSP00000369129:K1868N;ENSP00000396591:K1269N	ENSP00000369129:K1868N	K	+	3	2	DSP	7528098	1.000000	0.71417	0.895000	0.35142	0.977000	0.68977	1.522000	0.35921	-0.479000	0.06813	-0.312000	0.09012	AAG		0.448	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		6	88	0	0	0	1	0	6	88				
PPP1R15A	23645	broad.mit.edu	37	19	49379131	49379131	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:49379131C>T	ENST00000200453.5	+	3	2195	c.1926C>T	c.(1924-1926)tcC>tcT	p.S642S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	642					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TCCCTTCGTCCCCAGTCCAGA	0.677																																						ENST00000200453.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(1924-1926)tcC>tcT		protein phosphatase 1, regulatory subunit 15A							128.0	126.0	126.0					19																	49379131		2203	4300	6503	SO:0001819	synonymous_variant	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49379131C>T	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1926C>T	19.37:g.49379131C>T							p.S642S	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	3	2195	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	642					B4DKQ3|Q6IA96|Q9NVU6	Silent	SNP	ENST00000200453.5	37	c.1926C>T	CCDS12738.1																																																																																				0.677	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		79	151	0	0	0	1	0	79	151				
KLHL40	131377	broad.mit.edu	37	3	42728008	42728008	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:42728008C>G	ENST00000287777.4	+	1	998	c.898C>G	c.(898-900)Cgt>Ggt	p.R300G		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	300					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											GGAGGCCGAACGTATCCTTCC	0.572																																						ENST00000287777.4																			0											c.(898-900)Cgt>Ggt		kelch-like family member 40							179.0	176.0	177.0					3																	42728008		2203	4300	6503	SO:0001583	missense	131377							g.chr3:42728008C>G	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.898C>G	3.37:g.42728008C>G	ENSP00000287777:p.Arg300Gly						p.R300G	NM_152393.2	NP_689606.2					1	998	+								Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	c.898C>G	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.703772	0.00719	.	.	ENSG00000157119	ENST00000287777;ENST00000452129	T	0.71579	-0.58	5.09	3.09	0.35607	.	0.269229	0.36167	N	0.002759	T	0.44008	0.1273	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.10543	-1.0625	10	0.22706	T	0.39	.	2.8202	0.05469	0.185:0.4221:0.2943:0.0986	.	300	Q2TBA0	KBTB5_HUMAN	G	300;45	ENSP00000287777:R300G	ENSP00000287777:R300G	R	+	1	0	KBTBD5	42703012	0.707000	0.27866	0.029000	0.17559	0.010000	0.07245	1.617000	0.36943	1.165000	0.42670	-0.140000	0.14226	CGT		0.572	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		33	88	0	0	0	1	0	33	88				
SLC13A3	64849	broad.mit.edu	37	20	45239101	45239101	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:45239101C>G	ENST00000279027.4	-	3	543	c.525G>C	c.(523-525)gaG>gaC	p.E175D	SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000290317.5_Missense_Mutation_p.E128D|SLC13A3_ENST00000417157.2_Missense_Mutation_p.E128D|SLC13A3_ENST00000472148.1_Missense_Mutation_p.E128D|SLC13A3_ENST00000413164.2_Missense_Mutation_p.E175D|SLC13A3_ENST00000339636.3_Missense_Mutation_p.E175D|SLC13A3_ENST00000495082.1_Missense_Mutation_p.E128D|SLC13A3_ENST00000372121.1_Missense_Mutation_p.E175D|SLC13A3_ENST00000396360.1_Missense_Mutation_p.E128D	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	175					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TCTCTTCACTCTCCTGGCTGG	0.537																																						ENST00000279027.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(523-525)gaG>gaC		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						248.0	236.0	240.0					20																	45239101		2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45239101C>G	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.525G>C	20.37:g.45239101C>G	ENSP00000279027:p.Glu175Asp					SLC13A3_ENST00000417157.2_Missense_Mutation_p.E128D|SLC13A3_ENST00000472148.1_Missense_Mutation_p.E128D|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000413164.2_Missense_Mutation_p.E175D|SLC13A3_ENST00000495082.1_Missense_Mutation_p.E128D|SLC13A3_ENST00000396360.1_Missense_Mutation_p.E128D|SLC13A3_ENST00000290317.5_Missense_Mutation_p.E128D|SLC13A3_ENST00000339636.3_Missense_Mutation_p.E175D|SLC13A3_ENST00000372121.1_Missense_Mutation_p.E175D	p.E175D	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			3	543	-		Myeloproliferative disorder(115;0.0122)	175					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.525G>C	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512233	0.27036	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121;ENST00000417157;ENST00000339636	T;T;T;T;T;T;T;T;T;T;T	0.32515	3.76;3.76;4.02;3.76;3.53;3.76;3.18;2.84;2.83;1.45;2.44	5.49	3.34	0.38264	.	0.908141	0.09637	N	0.775453	T	0.26195	0.0639	L	0.49571	1.57	0.27081	N	0.963085	B;B;B;B;B	0.21452	0.056;0.006;0.006;0.004;0.007	B;B;B;B;B	0.25614	0.053;0.019;0.062;0.009;0.033	T	0.37079	-0.9721	10	0.15066	T	0.55	-18.5383	6.198	0.20559	0.0:0.6291:0.1425:0.2284	.	175;128;128;128;175	B4DIR8;Q8WWT9-3;F6WI18;C9J4A3;Q8WWT9	.;.;.;.;S13A3_HUMAN	D	128;128;175;128;175;128;128;138;175;128;175	ENSP00000290317:E128D;ENSP00000379648:E128D;ENSP00000279027:E175D;ENSP00000420177:E128D;ENSP00000415852:E175D;ENSP00000419621:E128D;ENSP00000417784:E128D;ENSP00000395095:E138D;ENSP00000361193:E175D;ENSP00000397955:E128D;ENSP00000344912:E175D	ENSP00000279027:E175D	E	-	3	2	SLC13A3	44672508	0.938000	0.31826	0.179000	0.23059	0.108000	0.19459	0.262000	0.18460	0.611000	0.30052	0.563000	0.77884	GAG		0.537	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			4	248	0	0	0	1	0	4	248				
TBC1D10A	83874	broad.mit.edu	37	22	30691032	30691032	+	Silent	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:30691032T>C	ENST00000215790.7	-	5	701	c.537A>G	c.(535-537)ctA>ctG	p.L179L	RP1-130H16.18_ENST00000447976.1_Silent_p.L53L|TBC1D10A_ENST00000403362.1_Silent_p.L91L|TBC1D10A_ENST00000403477.3_Silent_p.L186L	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	179	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GCACACGGAATAGGTCCTGCT	0.647																																						ENST00000215790.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(535-537)ctA>ctG		TBC1 domain family, member 10A							52.0	50.0	51.0					22																	30691032		2203	4300	6503	SO:0001819	synonymous_variant	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30691032T>C	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.537A>G	22.37:g.30691032T>C						TBC1D10A_ENST00000403477.3_Silent_p.L186L|TBC1D10A_ENST00000403362.1_Silent_p.L91L|RP1-130H16.18_ENST00000447976.1_Silent_p.L53L	p.L179L	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			5	701	-			179			Rab-GAP TBC.		B3KXT8|O76053|Q20WK7|Q543A2	Silent	SNP	ENST00000215790.7	37	c.537A>G	CCDS13874.1																																																																																				0.647	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		26	40	0	0	0	1	0	26	40				
CEP128	145508	broad.mit.edu	37	14	81259124	81259124	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:81259124G>C	ENST00000555265.1	-	14	1915	c.1540C>G	c.(1540-1542)Ctg>Gtg	p.L514V	CEP128_ENST00000281129.3_Missense_Mutation_p.L514V			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	514						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTGCCTGTCAGTTCATCAACA	0.378																																						ENST00000555265.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1540-1542)Ctg>Gtg		centrosomal protein 128kDa							169.0	161.0	164.0					14																	81259124		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81259124G>C	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1540C>G	14.37:g.81259124G>C	ENSP00000451162:p.Leu514Val					CEP128_ENST00000281129.3_Missense_Mutation_p.L514V	p.L514V			Q6ZU80	CE128_HUMAN			14	1915	-			514					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.1540C>G	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	G	5.675	0.309187	0.10733	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.33216	1.42;1.42	5.58	1.69	0.24217	.	0.187249	0.37053	N	0.002278	T	0.24005	0.0581	L	0.57536	1.79	0.58432	D	0.999999	P	0.47841	0.901	B	0.42030	0.373	T	0.07195	-1.0785	10	0.23302	T	0.38	.	4.3154	0.10991	0.3252:0.0:0.4351:0.2397	.	514	Q6ZU80	CE128_HUMAN	V	514	ENSP00000281129:L514V;ENSP00000451162:L514V	ENSP00000281129:L514V	L	-	1	2	CEP128	80328877	0.518000	0.26234	0.147000	0.22382	0.019000	0.09904	0.525000	0.22956	0.042000	0.15717	-0.979000	0.02580	CTG		0.378	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		5	129	0	0	0	1	0	5	129				
SI	6476	broad.mit.edu	37	3	164793736	164793736	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:164793736A>G	ENST00000264382.3	-	2	127	c.65T>C	c.(64-66)aTa>aCa	p.I22T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	22					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AATAGCTATTATAGTAACTAT	0.308										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(64-66)aTa>aCa		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						80.0	80.0	80.0					3																	164793736		2202	4293	6495	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164793736A>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.65T>C	3.37:g.164793736A>G	ENSP00000264382:p.Ile22Thr	HNSCC(35;0.089)					p.I22T	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			2	127	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	22					A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.65T>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.279248	0.23307	.	.	ENSG00000090402	ENST00000264382	D	0.89123	-2.47	5.68	4.5	0.54988	.	0.235149	0.43260	D	0.000582	D	0.86502	0.5948	M	0.78637	2.42	0.29518	N	0.853722	P	0.40909	0.732	B	0.35413	0.202	T	0.83261	-0.0048	10	0.54805	T	0.06	.	8.7246	0.34460	0.9129:0.0:0.0871:0.0	.	22	P14410	SUIS_HUMAN	T	22	ENSP00000264382:I22T	ENSP00000264382:I22T	I	-	2	0	SI	166276430	0.966000	0.33281	0.896000	0.35187	0.178000	0.23041	2.737000	0.47393	0.955000	0.37878	0.533000	0.62120	ATA		0.308	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		21	39	0	0	0	1	0	21	39				
TTN	7273	broad.mit.edu	37	2	179594422	179594422	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179594422C>A	ENST00000591111.1	-	61	17831	c.17607G>T	c.(17605-17607)acG>acT	p.T5869T	TTN_ENST00000342992.6_Silent_p.T4942T|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Silent_p.T6186T|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12668	Ig-like 39.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T4942T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAGCTCGCCGTGCCTGCGT	0.463																																						ENST00000589042.1																			1	Substitution - coding silent(1)	p.T4942T(1)	endometrium(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(18556-18558)acG>acT		titin							143.0	137.0	139.0					2																	179594422		1930	4155	6085	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594422C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17607G>T	2.37:g.179594422C>A						TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T4942T|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.T5869T	p.T6186T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		63	18782	-			5869			Ig-like 43.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.18558G>T																																																																																					0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		57	96	1	0	2.91325e-39	1	3.64538e-39	57	96				
IGSF1	3547	broad.mit.edu	37	X	130411898	130411898	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:130411898C>T	ENST00000361420.3	-	13	2331	c.2252G>A	c.(2251-2253)cGc>cAc	p.R751H	IGSF1_ENST00000370903.3_Missense_Mutation_p.R756H|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.R742H|IGSF1_ENST00000370904.1_Missense_Mutation_p.R742H			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	751	Ig-like C2-type 7.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGTGTGAGTGCGGCAGCTGTA	0.512																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(2224-2226)cGc>cAc		immunoglobulin superfamily, member 1							130.0	117.0	122.0					X																	130411898		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130411898C>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2252G>A	X.37:g.130411898C>T	ENSP00000355010:p.Arg751His					IGSF1_ENST00000370910.1_Missense_Mutation_p.R742H|IGSF1_ENST00000370903.3_Missense_Mutation_p.R756H|IGSF1_ENST00000361420.3_Missense_Mutation_p.R751H	p.R742H			Q8N6C5	IGSF1_HUMAN			19	3135	-			751			Ig-like C2-type 7.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.2225G>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844583	0.51164	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	4.88	4.88	0.63580	Immunoglobulin-like fold (1);	0.333575	0.22179	N	0.063527	T	0.28433	0.0703	L	0.43152	1.355	0.40780	D	0.983161	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.83275	0.98;0.995;0.996	T	0.00986	-1.1490	10	0.45353	T	0.12	.	12.9346	0.58307	0.0:1.0:0.0:0.0	.	742;195;751	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	H	742;751;742;756	ENSP00000359947:R742H;ENSP00000355010:R751H;ENSP00000359941:R742H;ENSP00000359940:R756H	ENSP00000355010:R751H	R	-	2	0	IGSF1	130239579	0.339000	0.24784	0.999000	0.59377	0.996000	0.88848	0.573000	0.23699	2.354000	0.79902	0.594000	0.82650	CGC		0.512	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			28	58	0	0	0	1	0	28	58				
ETHE1	23474	broad.mit.edu	37	19	44012063	44012063	+	Intron	SNP	C	C	A	rs375984717		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:44012063C>A	ENST00000292147.2	-	6	779				ETHE1_ENST00000600651.1_Nonsense_Mutation_p.E249*|PHLDB3_ENST00000292140.5_5'Flank|PHLDB3_ENST00000599242.1_5'Flank	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1						cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				cctcctctctcagacccagaa	0.617																																						ENST00000600651.1																			0				central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(745-747)Gag>Tag		ethylmalonic encephalopathy 1							37.0	30.0	32.0					19																	44012063		2203	4300	6503	SO:0001627	intron_variant	23474					mitochondrial matrix|nucleus	hydrolase activity|metal ion binding	g.chr19:44012063C>A		CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.712+32G>T	19.37:g.44012063C>A						ETHE1_ENST00000292147.2_Intron	p.E249*			O95571	ETHE1_HUMAN			6	768	-		Prostate(69;0.0153)	15					Q96HR0|Q9H001	Nonsense_Mutation	SNP	ENST00000292147.2	37	c.745G>T	CCDS12622.1																																																																																				0.617	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463184.1	NM_014297		4	14	1	0	0.00024832	1	0.000259164	4	14				
NAA15	80155	broad.mit.edu	37	4	140262203	140262203	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:140262203C>T	ENST00000296543.5	+	4	705	c.382C>T	c.(382-384)Cga>Tga	p.R128*	NAA15_ENST00000398947.1_Nonsense_Mutation_p.R128*|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	128					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GATTCAAATGCGAGATCTTGA	0.318																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(382-384)Cga>Tga		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							99.0	90.0	93.0					4																	140262203		1824	4077	5901	SO:0001587	stop_gained	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140262203C>T	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.382C>T	4.37:g.140262203C>T	ENSP00000296543:p.Arg128*					NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Nonsense_Mutation_p.R128*	p.R128*	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			4	705	+			128					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Nonsense_Mutation	SNP	ENST00000296543.5	37	c.382C>T	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	C	36	5.621279	0.96660	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	.	.	.	5.56	-0.187	0.13268	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5232	16.9177	0.86155	0.8088:0.1912:0.0:0.0	.	.	.	.	X	128;2;128	.	ENSP00000296543:R128X	R	+	1	2	NAA15	140481653	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	2.928000	0.48908	0.004000	0.14682	0.591000	0.81541	CGA		0.318	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		14	41	0	0	0	1	0	14	41				
OR2T11	127077	broad.mit.edu	37	1	248789965	248789965	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:248789965C>T	ENST00000330803.2	-	1	526	c.465G>A	c.(463-465)ctG>ctA	p.L155L		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGGAGTGAGCAGAAAGCCAT	0.522																																						ENST00000330803.2																			0				breast(1)|large_intestine(5)|lung(20)|skin(2)	28						c.(463-465)ctG>ctA		olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)							51.0	58.0	56.0					1																	248789965		2050	4233	6283	SO:0001819	synonymous_variant	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789965C>T	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.465G>A	1.37:g.248789965C>T							p.L155L	NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	526	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		155					Q6IEY6	Silent	SNP	ENST00000330803.2	37	c.465G>A	CCDS31122.1																																																																																				0.522	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		29	37	0	0	0	1	0	29	37				
RARB	5915	broad.mit.edu	37	3	25635088	25635088	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:25635088G>T	ENST00000404969.1	+	6	902	c.902G>T	c.(901-903)gGa>gTa	p.G301V	RARB_ENST00000458646.1_Missense_Mutation_p.G182V|RARB_ENST00000330688.4_Missense_Mutation_p.G294V|RARB_ENST00000462272.1_Intron|RARB_ENST00000437042.2_Missense_Mutation_p.G182V			P10826	RARB_HUMAN	retinoic acid receptor, beta	301	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CACAATGCTGGATTTGGTCCT	0.473																																						ENST00000330688.4																			0				breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28						c.(880-882)gGa>gTa		retinoic acid receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						202.0	178.0	186.0					3																	25635088		2203	4300	6503	SO:0001583	missense	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25635088G>T	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.902G>T	3.37:g.25635088G>T	ENSP00000385865:p.Gly301Val					RARB_ENST00000462272.1_Intron|RARB_ENST00000458646.1_Missense_Mutation_p.G182V|RARB_ENST00000404969.1_Missense_Mutation_p.G301V|RARB_ENST00000437042.2_Missense_Mutation_p.G182V	p.G294V	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN			6	1302	+			301			Ligand-binding.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.881G>T		.	.	.	.	.	.	.	.	.	.	G	33	5.242454	0.95272	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07	5.95	5.95	0.96441	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98579	0.9525	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.98977	1.0803	10	0.87932	D	0	.	20.3712	0.98891	0.0:0.0:1.0:0.0	.	301;294	P10826;F1D8S6	RARB_HUMAN;.	V	301;301;301;182;294;182	ENSP00000373282:G301V;ENSP00000385865:G301V;ENSP00000398840:G182V;ENSP00000332296:G294V;ENSP00000391391:G182V	ENSP00000332296:G294V	G	+	2	0	RARB	25610092	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.843000	0.99491	2.822000	0.97130	0.655000	0.94253	GGA		0.473	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		40	50	1	0	1.22674e-20	1	1.49081e-20	40	50				
DDX17	10521	broad.mit.edu	37	22	38891843	38891843	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:38891843C>G	ENST00000396821.3	-	6	937	c.838G>C	c.(838-840)Gga>Cga	p.G280R	DDX17_ENST00000381633.3_Missense_Mutation_p.G201R|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	280	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GGAGCACCTCCATAAATACAA	0.418																																					Ovarian(55;1085 1454 6392 21425)	ENST00000396821.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(838-840)Gga>Cga		DEAD (Asp-Glu-Ala-Asp) box helicase 17							110.0	116.0	114.0					22																	38891843		2203	4300	6503	SO:0001583	missense	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38891843C>G	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.838G>C	22.37:g.38891843C>G	ENSP00000380033:p.Gly280Arg					DDX17_ENST00000381633.3_Missense_Mutation_p.G201R|DDX17_ENST00000432525.1_5'UTR	p.G280R	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN			6	937	-	Melanoma(58;0.0286)		201			Helicase ATP-binding.		B1AHM0|Q69YT1|Q6ICD6	Missense_Mutation	SNP	ENST00000396821.3	37	c.838G>C	CCDS46706.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007925	0.93287	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000403230;ENST00000404499	T;T;T	0.09255	3.0;3.0;3.0	5.41	5.41	0.78517	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57710	0.2072	H	0.99740	4.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.78783	-0.2069	10	0.87932	D	0	-14.3683	19.558	0.95361	0.0:1.0:0.0:0.0	.	201;282;280	Q92841;Q59F66;Q92841-4	DDX17_HUMAN;.;.	R	280;201;280;282	ENSP00000380033:G280R;ENSP00000371046:G201R;ENSP00000385536:G280R	ENSP00000371046:G201R	G	-	1	0	DDX17	37221789	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.461000	0.80834	2.706000	0.92434	0.563000	0.77884	GGA		0.418	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		5	97	0	0	0	1	0	5	97				
WHSC1L1	54904	broad.mit.edu	37	8	38146196	38146196	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:38146196C>G	ENST00000317025.8	-	19	3827	c.3310G>C	c.(3310-3312)Gat>Cat	p.D1104H	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.D1104H|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.D1055H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1104	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GGGTTTTCATCAGCTGGCTTG	0.502			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(3310-3312)Gat>Cat		Wolf-Hirschhorn syndrome candidate 1-like 1							93.0	94.0	93.0					8																	38146196		1999	4220	6219	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38146196C>G	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3310G>C	8.37:g.38146196C>G	ENSP00000313983:p.Asp1104His					WHSC1L1_ENST00000527502.1_Missense_Mutation_p.D1104H|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.D1055H	p.D1104H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		19	3827	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	1104			AWS.		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.3310G>C	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054102	0.93793	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.89343	-2.5;-2.5;-2.5	6.17	6.17	0.99709	AWS (2);	0.000000	0.49916	U	0.000131	D	0.94955	0.8368	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.995	D	0.94407	0.7628	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1104;1055;1104	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	H	1055;1104;1041;1104	ENSP00000393284:D1055H;ENSP00000313983:D1104H;ENSP00000434730:D1104H	ENSP00000313983:D1104H	D	-	1	0	WHSC1L1	38265353	1.000000	0.71417	0.642000	0.29436	0.950000	0.60333	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAT		0.502	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		7	104	0	0	0	1	0	7	104				
FAT4	79633	broad.mit.edu	37	4	126371172	126371172	+	Missense_Mutation	SNP	A	A	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:126371172A>C	ENST00000394329.3	+	9	9014	c.9001A>C	c.(9001-9003)Aag>Cag	p.K3001Q	FAT4_ENST00000335110.5_Missense_Mutation_p.K1299Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3001	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTTGGTACGAAGTTAATCAG	0.313																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(9001-9003)Aag>Cag		FAT atypical cadherin 4							58.0	61.0	60.0					4																	126371172		2203	4299	6502	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371172A>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9001A>C	4.37:g.126371172A>C	ENSP00000377862:p.Lys3001Gln					FAT4_ENST00000335110.5_Missense_Mutation_p.K1299Q	p.K3001Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	9014	+			3001			Cadherin 29.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.9001A>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	8.702	0.910062	0.17833	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01745	4.66;4.66	5.81	2.0	0.26442	Cadherin (3);Cadherin-like (1);	0.202926	0.23130	U	0.051598	T	0.01061	0.0035	N	0.05306	-0.075	0.09310	N	1	B;P;P	0.47762	0.328;0.858;0.9	B;B;B	0.43701	0.079;0.428;0.371	T	0.51903	-0.8646	10	0.13470	T	0.59	.	6.6889	0.23160	0.7363:0.1296:0.1341:0.0	.	1299;3001;3001	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	Q	3001;1299	ENSP00000377862:K3001Q;ENSP00000335169:K1299Q	ENSP00000335169:K1299Q	K	+	1	0	FAT4	126590622	0.992000	0.36948	0.000000	0.03702	0.009000	0.06853	4.200000	0.58433	0.120000	0.18254	-0.250000	0.11733	AAG		0.313	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		21	32	0	0	0	1	0	21	32				
TRAPPC12	51112	broad.mit.edu	37	2	3392315	3392315	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:3392315C>T	ENST00000324266.5	+	2	1116	c.921C>T	c.(919-921)aaC>aaT	p.N307N	TRAPPC12_ENST00000382110.2_Silent_p.N307N	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	307					vesicle-mediated transport (GO:0016192)												ACCGGAGGAACGACGCCTGGC	0.677																																						ENST00000324266.5																			0											c.(919-921)aaC>aaT		trafficking protein particle complex 12							36.0	31.0	33.0					2																	3392315		2202	4298	6500	SO:0001819	synonymous_variant	51112						binding	g.chr2:3392315C>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.921C>T	2.37:g.3392315C>T						TRAPPC12_ENST00000382110.2_Silent_p.N307N	p.N307N	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN			2	1116	+			307					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	ENST00000324266.5	37	c.921C>T	CCDS1652.1																																																																																				0.677	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		3	48	0	0	0	1	0	3	48				
LRRTM3	347731	broad.mit.edu	37	10	68687741	68687741	+	Missense_Mutation	SNP	A	A	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:68687741A>T	ENST00000361320.4	+	2	1645	c.1067A>T	c.(1066-1068)aAg>aTg	p.K356M	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	356	LRRCT.				positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GATGCAGTGAAGAACTACAGC	0.473																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(1066-1068)aAg>aTg		leucine rich repeat transmembrane neuronal 3							70.0	71.0	71.0					10																	68687741		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687741A>T	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1067A>T	10.37:g.68687741A>T	ENSP00000355187:p.Lys356Met					CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron	p.K356M	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	1645	+			356			LRRCT.		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.1067A>T	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	A	10.68	1.418717	0.25552	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.46819	0.86	5.94	3.61	0.41365	.	0.152498	0.46145	D	0.000312	T	0.37100	0.0991	N	0.08118	0	0.39530	D	0.968656	P;D	0.54047	0.939;0.964	P;P	0.55161	0.593;0.77	T	0.27706	-1.0066	10	0.39692	T	0.17	.	8.4075	0.32622	0.7797:0.0:0.2203:0.0	.	356;356	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	M	356	ENSP00000355187:K356M	ENSP00000355187:K356M	K	+	2	0	LRRTM3	68357747	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.845000	0.55880	1.081000	0.41110	0.528000	0.53228	AAG		0.473	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		29	38	0	0	0	1	0	29	38				
BTK	695	broad.mit.edu	37	X	100608882	100608882	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:100608882T>A	ENST00000308731.7	-	17	1889	c.1726A>T	c.(1726-1728)Agc>Tgc	p.S576C	BTK_ENST00000372880.1_Missense_Mutation_p.S400C	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	576	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCAGATTTGCTGCTGAACTTG	0.433									Agammaglobulinemia, X-linked																													ENST00000308731.7																			0				breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1726-1728)Agc>Tgc		Bruton agammaglobulinemia tyrosine kinase							119.0	110.0	113.0					X																	100608882		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100608882T>A	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1726A>T	X.37:g.100608882T>A	ENSP00000308176:p.Ser576Cys					BTK_ENST00000372880.1_Missense_Mutation_p.S400C	p.S576C	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN			17	1889	-			576			Protein kinase.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.1726A>T	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.755508	0.89843	.	.	ENSG00000010671	ENST00000372880;ENST00000372855;ENST00000372860;ENST00000308731	D;D	0.83837	-1.77;-1.77	5.46	5.46	0.80206	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90126	0.6915	M	0.72576	2.205	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.985;0.991;0.999;0.998	D	0.91218	0.5004	10	0.87932	D	0	.	14.2523	0.66028	0.0:0.0:0.0:1.0	.	400;247;151;576	Q5JY90;Q3MS96;Q572P5;Q06187	.;.;.;BTK_HUMAN	C	400;125;151;576	ENSP00000361971:S400C;ENSP00000308176:S576C	ENSP00000308176:S576C	S	-	1	0	BTK	100495538	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.992000	0.88273	1.824000	0.53156	0.486000	0.48141	AGC		0.433	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		48	84	0	0	0	1	0	48	84				
TRIM28	10155	broad.mit.edu	37	19	59061843	59061843	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:59061843G>C	ENST00000253024.5	+	17	2720	c.2431G>C	c.(2431-2433)Gag>Cag	p.E811Q	TRIM28_ENST00000341753.6_Missense_Mutation_p.E729Q	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	811					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TGTGCTGGTGGAGCCCCCGCC	0.657																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(2431-2433)Gag>Cag		tripartite motif containing 28							53.0	46.0	48.0					19																	59061843		2203	4300	6503	SO:0001583	missense	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59061843G>C		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.2431G>C	19.37:g.59061843G>C	ENSP00000253024:p.Glu811Gln					TRIM28_ENST00000341753.6_Missense_Mutation_p.E729Q	p.E811Q	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	17	2720	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	811					O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	c.2431G>C	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582548	0.86748	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.71103	-0.31;-0.54	5.06	5.06	0.68205	.	0.094278	0.43260	D	0.000581	T	0.72803	0.3506	N	0.14661	0.345	0.36217	D	0.851762	D;P;D	0.59357	0.985;0.928;0.974	D;D;D	0.74023	0.982;0.941;0.96	T	0.79921	-0.1599	10	0.66056	D	0.02	-38.8191	16.3215	0.82952	0.0:0.0:1.0:0.0	.	729;811;811	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	Q	811;729	ENSP00000253024:E811Q;ENSP00000342232:E729Q	ENSP00000253024:E811Q	E	+	1	0	TRIM28	63753655	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.414000	0.52693	2.804000	0.96469	0.462000	0.41574	GAG		0.657	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		5	50	0	0	0	1	0	5	50				
ANKRD36BP2	645784	broad.mit.edu	37	2	89082254	89082254	+	RNA	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:89082254C>A	ENST00000393525.3	+	0	478									ankyrin repeat domain 36B pseudogene 2																		TTTTCAGTGTCTTCTCAGAAA	0.308																																						ENST00000393525.3																			0																																																			645784							g.chr2:89082254C>A			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89082254C>A														0	478	+									RNA	SNP	ENST00000393525.3	37																																																																																						0.308	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			15	30	1	0	2.32078e-09	1	2.58787e-09	15	30				
SMURF2	64750	broad.mit.edu	37	17	62552006	62552006	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:62552006C>G	ENST00000262435.9	-	14	1729	c.1542G>C	c.(1540-1542)ggG>ggC	p.G514G		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	514	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TAATTGACTTCCCAAGCAATT	0.373																																						ENST00000262435.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22						c.(1540-1542)ggG>ggC		SMAD specific E3 ubiquitin protein ligase 2							103.0	87.0	92.0					17																	62552006		2203	4300	6503	SO:0001819	synonymous_variant	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	g.chr17:62552006C>G	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.1542G>C	17.37:g.62552006C>G							p.G514G	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		14	1729	-	Breast(5;1.32e-14)		514			HECT.		Q52LL1|Q9H260	Silent	SNP	ENST00000262435.9	37	c.1542G>C	CCDS32707.1																																																																																				0.373	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		7	54	0	0	0	1	0	7	54				
IPO13	9670	broad.mit.edu	37	1	44424164	44424164	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:44424164T>C	ENST00000372343.3	+	10	2443	c.1781T>C	c.(1780-1782)cTg>cCg	p.L594P		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	594					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ATGCAGGCGCTGGGCTTCCTG	0.542																																						ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1780-1782)cTg>cCg		importin 13							80.0	84.0	82.0					1																	44424164		2203	4300	6503	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44424164T>C	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1781T>C	1.37:g.44424164T>C	ENSP00000361418:p.Leu594Pro						p.L594P	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			10	2443	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	594					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.1781T>C	CCDS503.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.494461	0.85069	.	.	ENSG00000117408	ENST00000372343	T	0.76316	-1.01	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.82995	0.5158	L	0.44542	1.39	0.80722	D	1	D	0.69078	0.997	P	0.62089	0.898	D	0.84862	0.0820	10	0.87932	D	0	-22.3957	16.167	0.81768	0.0:0.0:0.0:1.0	.	594	O94829	IPO13_HUMAN	P	594	ENSP00000361418:L594P	ENSP00000361418:L594P	L	+	2	0	IPO13	44196751	1.000000	0.71417	0.897000	0.35233	0.991000	0.79684	7.593000	0.82686	2.214000	0.71695	0.528000	0.53228	CTG		0.542	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		28	88	0	0	0	1	0	28	88				
XIRP2	129446	broad.mit.edu	37	2	168102265	168102265	+	Missense_Mutation	SNP	C	C	G	rs202071210	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:168102265C>G	ENST00000409195.1	+	9	4452	c.4363C>G	c.(4363-4365)Cta>Gta	p.L1455V	XIRP2_ENST00000295237.9_Missense_Mutation_p.L1455V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1233V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1280					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCTACTTGGCTATTTGAAAC	0.338																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(4363-4365)Cta>Gta		xin actin-binding repeat containing 2							103.0	89.0	93.0					2																	168102265		1868	4121	5989	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102265C>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4363C>G	2.37:g.168102265C>G	ENSP00000386840:p.Leu1455Val					XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L1455V|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1233V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	p.L1455V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	4452	+			1280					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4363C>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092667	0.36952	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.06449	3.31;3.31;3.3	5.67	0.606	0.17559	.	0.066730	0.64402	D	0.000011	T	0.22205	0.0535	M	0.83384	2.64	0.39952	D	0.974558	D;D;D	0.89917	0.999;1.0;0.995	D;D;D	0.83275	0.991;0.996;0.922	T	0.01688	-1.1295	10	0.62326	D	0.03	-9.6701	9.2322	0.37444	0.0:0.5241:0.0:0.4759	.	1280;1280;1233	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	V	1455;1455;1233	ENSP00000386840:L1455V;ENSP00000295237:L1455V;ENSP00000387255:L1233V	ENSP00000295237:L1455V	L	+	1	2	XIRP2	167810511	0.999000	0.42202	0.998000	0.56505	0.929000	0.56500	1.094000	0.30951	0.294000	0.22547	-0.244000	0.11960	CTA		0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		37	35	0	0	0	1	0	37	35				
PRKD1	5587	broad.mit.edu	37	14	30132910	30132910	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:30132910G>A	ENST00000331968.5	-	4	920	c.691C>T	c.(691-693)Ctt>Ttt	p.L231F	PRKD1_ENST00000415220.2_Missense_Mutation_p.L231F	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	231					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CATACCAGAAGGGGCTCATCA	0.532																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(691-693)Ctt>Ttt		protein kinase D1							143.0	138.0	140.0					14																	30132910		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30132910G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.691C>T	14.37:g.30132910G>A	ENSP00000333568:p.Leu231Phe					PRKD1_ENST00000415220.2_Missense_Mutation_p.L231F	p.L231F	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	4	920	-	Hepatocellular(127;0.0604)		231					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.691C>T	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292679	0.59976	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.68765	-0.31;-0.35	5.93	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.71367	0.3331	L	0.57536	1.79	0.58432	D	0.999996	D	0.63880	0.993	P	0.53450	0.726	T	0.73357	-0.4008	10	0.54805	T	0.06	-13.9217	11.5995	0.50995	0.1381:0.0:0.8619:0.0	.	231	Q15139	KPCD1_HUMAN	F	231	ENSP00000333568:L231F;ENSP00000390535:L231F	ENSP00000333568:L231F	L	-	1	0	PRKD1	29202661	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.796000	0.47869	1.479000	0.48272	0.655000	0.94253	CTT		0.532	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		23	99	0	0	0	1	0	23	99				
MST1R	4486	broad.mit.edu	37	3	49929227	49929227	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:49929227G>C	ENST00000296474.3	-	15	3343	c.3316C>G	c.(3316-3318)Cag>Gag	p.Q1106E	MST1R_ENST00000344206.4_Missense_Mutation_p.Q1057E	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ATTCGATTCTGGGCCTGGTCT	0.537																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(3316-3318)Cag>Gag		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							242.0	210.0	221.0					3																	49929227		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49929227G>C	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3316C>G	3.37:g.49929227G>C	ENSP00000296474:p.Gln1106Glu					MST1R_ENST00000344206.4_Missense_Mutation_p.Q1057E	p.Q1106E	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	15	3343	-			1106			Protein kinase.		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.3316C>G	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	.	13.93	2.383909	0.42308	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	D;D	0.82081	-1.57;-1.57	5.55	4.66	0.58398	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.262937	0.45126	D	0.000388	T	0.75376	0.3841	N	0.10760	0.04	0.22142	N	0.999339	D	0.65815	0.995	D	0.73708	0.981	T	0.66196	-0.5984	10	0.05351	T	0.99	-22.2729	7.2264	0.26018	0.1243:0.0:0.7247:0.151	.	1106	Q04912	RON_HUMAN	E	1106;1057	ENSP00000296474:Q1106E;ENSP00000341325:Q1057E	ENSP00000296474:Q1106E	Q	-	1	0	MST1R	49904231	1.000000	0.71417	0.914000	0.36105	0.975000	0.68041	2.701000	0.47094	1.353000	0.45828	0.632000	0.83419	CAG		0.537	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			10	185	0	0	0	1	0	10	185				
TMEM177	80775	broad.mit.edu	37	2	120439004	120439004	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:120439004G>T	ENST00000424086.1	+	2	1048	c.575G>T	c.(574-576)gGg>gTg	p.G192V	TMEM177_ENST00000272521.6_Missense_Mutation_p.G192V|TMEM177_ENST00000401466.1_Missense_Mutation_p.G192V|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000496203.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	192						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					TACACCCTGGGGCTCCATGCA	0.627																																						ENST00000424086.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(574-576)gGg>gTg		transmembrane protein 177							51.0	54.0	53.0					2																	120439004		2203	4300	6503	SO:0001583	missense	80775					integral to membrane		g.chr2:120439004G>T	BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.575G>T	2.37:g.120439004G>T	ENSP00000402661:p.Gly192Val					TMEM177_ENST00000401466.1_Missense_Mutation_p.G192V|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.G192V|TMEM177_ENST00000409951.1_Intron	p.G192V	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN			2	1048	+	Colorectal(110;0.196)		192					Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	37	c.575G>T	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273864	0.40194	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000415646	T;T;T	0.46451	0.87;0.87;0.87	4.48	2.67	0.31697	.	0.053049	0.85682	D	0.000000	T	0.58409	0.2120	M	0.78049	2.395	0.80722	D	1	D	0.67145	0.996	D	0.64410	0.925	T	0.61802	-0.6988	10	0.72032	D	0.01	-24.9433	8.6126	0.33811	0.1958:0.0:0.8042:0.0	.	192	Q53S58	TM177_HUMAN	V	192	ENSP00000385966:G192V;ENSP00000402661:G192V;ENSP00000272521:G192V	ENSP00000272521:G192V	G	+	2	0	TMEM177	120155474	1.000000	0.71417	0.941000	0.38009	0.208000	0.24298	7.006000	0.76329	1.266000	0.44231	0.549000	0.68633	GGG		0.627	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		19	25	1	0	2.35188e-11	1	2.65559e-11	19	25				
PIK3R5	23533	broad.mit.edu	37	17	8785008	8785008	+	Missense_Mutation	SNP	G	G	T	rs529530887	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:8785008G>T	ENST00000447110.1	-	17	2445	c.2321C>A	c.(2320-2322)aCg>aAg	p.T774K	PIK3R5_ENST00000581552.1_Missense_Mutation_p.T774K|PIK3R5_ENST00000584803.1_Missense_Mutation_p.T773K	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	774					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CAGGTTTAGCGTCAGGGCCTC	0.572																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(2320-2322)aCg>aAg		phosphoinositide-3-kinase, regulatory subunit 5							145.0	129.0	134.0					17																	8785008		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8785008G>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.2321C>A	17.37:g.8785008G>T	ENSP00000392812:p.Thr774Lys					PIK3R5_ENST00000581552.1_Missense_Mutation_p.T774K|PIK3R5_ENST00000584803.1_Missense_Mutation_p.T773K	p.T774K	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			17	2445	-			774					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.2321C>A	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	9.931	1.214882	0.22373	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.77098	-1.07	4.71	2.72	0.32119	.	0.240076	0.41823	D	0.000814	T	0.60932	0.2307	N	0.24115	0.695	0.27545	N	0.950661	B	0.28760	0.221	B	0.33521	0.165	T	0.50110	-0.8866	10	0.31617	T	0.26	-8.2067	4.1201	0.10101	0.1841:0.0:0.5436:0.2723	.	774	Q8WYR1	PI3R5_HUMAN	K	774	ENSP00000392812:T774K	ENSP00000269300:T774K	T	-	2	0	PIK3R5	8725733	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	1.952000	0.40343	0.600000	0.29862	-0.448000	0.05591	ACG		0.572	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		7	13	1	0	0.0381472	1	0.0386322	7	13				
ATMIN	23300	broad.mit.edu	37	16	81077118	81077118	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:81077118G>C	ENST00000299575.4	+	4	1039	c.1015G>C	c.(1015-1017)Ggg>Cgg	p.G339R	ATMIN_ENST00000566488.1_Missense_Mutation_p.G183R|ATMIN_ENST00000564241.1_Missense_Mutation_p.G183R|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	339	Required for formation of RAD51 foci.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CTCTGCCACAGGGGCTGTGCA	0.527																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(547-549)Ggg>Cgg		ATM interactor							56.0	57.0	57.0					16																	81077118		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81077118G>C	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1015G>C	16.37:g.81077118G>C	ENSP00000299575:p.Gly339Arg					ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.G183R|ATMIN_ENST00000299575.4_Missense_Mutation_p.G339R	p.G183R			O43313	ATMIN_HUMAN			3	1510	+			339					A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.547G>C	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	G	4.075	0.011873	0.07912	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.33654	1.4	5.93	3.79	0.43588	.	0.226724	0.50627	D	0.000107	T	0.27832	0.0685	L	0.43152	1.355	0.09310	N	1	P	0.45902	0.868	B	0.42319	0.383	T	0.26849	-1.0091	10	0.66056	D	0.02	-17.6028	4.2011	0.10467	0.4447:0.0:0.5553:0.0	.	339	O43313	ATMIN_HUMAN	R	339;110	ENSP00000299575:G339R	ENSP00000299575:G339R	G	+	1	0	ATMIN	79634619	1.000000	0.71417	0.025000	0.17156	0.055000	0.15305	4.069000	0.57541	1.521000	0.48983	0.655000	0.94253	GGG		0.527	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		7	74	0	0	0	1	0	7	74				
SEMA5A	9037	broad.mit.edu	37	5	9154724	9154724	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:9154724C>G	ENST00000382496.5	-	12	2022	c.1357G>C	c.(1357-1359)Gag>Cag	p.E453Q		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	453	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTCCGCCTCTCAGGGAAGAGC	0.562																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(1357-1359)Gag>Cag		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							91.0	89.0	90.0					5																	9154724		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9154724C>G	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1357G>C	5.37:g.9154724C>G	ENSP00000371936:p.Glu453Gln						p.E453Q	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			12	2022	-			453			Sema.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.1357G>C	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	8.042	0.764069	0.15914	.	.	ENSG00000112902	ENST00000382496	T	0.11063	2.81	5.47	3.66	0.41972	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.460986	0.26072	N	0.026519	T	0.07908	0.0198	L	0.41492	1.28	0.09310	N	0.999999	B	0.13594	0.008	B	0.19946	0.027	T	0.33624	-0.9861	10	0.18276	T	0.48	.	5.0978	0.14742	0.0:0.6491:0.1815:0.1694	.	453	Q13591	SEM5A_HUMAN	Q	453	ENSP00000371936:E453Q	ENSP00000371936:E453Q	E	-	1	0	SEMA5A	9207724	0.991000	0.36638	0.272000	0.24630	0.533000	0.34776	2.362000	0.44169	1.299000	0.44798	0.591000	0.81541	GAG		0.562	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			6	193	0	0	0	1	0	6	193				
OR52I2	143502	broad.mit.edu	37	11	4608714	4608714	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:4608714C>G	ENST00000312614.4	+	1	694	c.672C>G	c.(670-672)ccC>ccG	p.P224P		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCCCGTGCCCAGCAGTCTCT	0.502																																						ENST00000312614.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19						c.(670-672)ccC>ccG		olfactory receptor, family 52, subfamily I, member 2							174.0	171.0	172.0					11																	4608714		2201	4296	6497	SO:0001819	synonymous_variant	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608714C>G	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.672C>G	11.37:g.4608714C>G							p.P224P	NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	694	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	224					B2RNJ5|B9EKV8|Q6IFJ8	Silent	SNP	ENST00000312614.4	37	c.672C>G	CCDS31355.1																																																																																				0.502	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		44	132	0	0	0	1	0	44	132				
NUMA1	4926	broad.mit.edu	37	11	71729335	71729335	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:71729335C>A	ENST00000393695.3	-	12	1203	c.872G>T	c.(871-873)cGg>cTg	p.R291L	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Missense_Mutation_p.R291L|NUMA1_ENST00000358965.6_Missense_Mutation_p.R291L	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TTCATGCAGCCGCATGGTAAG	0.577			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(871-873)cGg>cTg		nuclear mitotic apparatus protein 1							84.0	79.0	81.0					11																	71729335		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71729335C>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.872G>T	11.37:g.71729335C>A	ENSP00000377298:p.Arg291Leu					NUMA1_ENST00000358965.6_Missense_Mutation_p.R291L|NUMA1_ENST00000351960.6_Missense_Mutation_p.R291L|RP11-849H4.4_ENST00000502284.1_RNA	p.R291L	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			12	1203	-			291						Missense_Mutation	SNP	ENST00000393695.3	37	c.872G>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525742	0.64860	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217	T;T;T;T;T	0.62639	1.65;1.79;1.77;0.52;0.01	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000004	T	0.78572	0.4304	M	0.67397	2.05	0.38402	D	0.945697	D;D;D;P;D;B	0.89917	1.0;0.998;0.998;0.865;0.998;0.419	D;D;D;P;D;B	0.91635	0.999;0.994;0.994;0.497;0.994;0.375	T	0.81167	-0.1056	10	0.59425	D	0.04	.	18.66	0.91469	0.0:1.0:0.0:0.0	.	291;291;291;291;291;291	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	L	291	ENSP00000260051:R291L;ENSP00000351851:R291L;ENSP00000377298:R291L;ENSP00000444880:R291L;ENSP00000442936:R291L	ENSP00000260051:R291L	R	-	2	0	NUMA1	71406983	0.920000	0.31207	1.000000	0.80357	0.179000	0.23085	2.954000	0.49113	2.566000	0.86566	0.655000	0.94253	CGG		0.577	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			23	45	1	0	7.87624e-14	1	9.13797e-14	23	45				
NCOA6	23054	broad.mit.edu	37	20	33329604	33329604	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:33329604C>G	ENST00000374796.2	-	12	7026	c.4456G>C	c.(4456-4458)Gaa>Caa	p.E1486Q	NCOA6_ENST00000359003.2_Missense_Mutation_p.E1486Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1486					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GTTGGTGCTTCCCTCATAGCA	0.468																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(4456-4458)Gaa>Caa		nuclear receptor coactivator 6							104.0	93.0	96.0					20																	33329604		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33329604C>G	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.4456G>C	20.37:g.33329604C>G	ENSP00000363929:p.Glu1486Gln					NCOA6_ENST00000359003.2_Missense_Mutation_p.E1486Q	p.E1486Q			Q14686	NCOA6_HUMAN			12	7026	-			1486					A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.4456G>C	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066126	0.55539	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.31247	1.5;1.5	5.37	5.37	0.77165	.	0.070853	0.64402	D	0.000016	T	0.30230	0.0758	N	0.19112	0.55	0.38066	D	0.936216	D	0.59357	0.985	P	0.49799	0.622	T	0.03761	-1.1006	10	0.23302	T	0.38	-11.1522	19.3052	0.94158	0.0:1.0:0.0:0.0	.	1486	Q14686	NCOA6_HUMAN	Q	1486	ENSP00000363929:E1486Q;ENSP00000351894:E1486Q	ENSP00000351894:E1486Q	E	-	1	0	NCOA6	32793265	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.982000	0.56909	2.793000	0.96121	0.591000	0.81541	GAA		0.468	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		12	80	0	0	0	1	0	12	80				
ACTA1	58	broad.mit.edu	37	1	229567637	229567637	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:229567637G>C	ENST00000366684.3	-	6	923	c.821C>G	c.(820-822)gCg>gGg	p.A274G	ACTA1_ENST00000366683.2_Missense_Mutation_p.A186G	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	274			A -> E (in NEM3).		cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				GTGAATGCCCGCCGACTCCAT	0.682																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	GRCh37	CM034512	ACTA1	M		c.(820-822)gCg>gGg		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						103.0	95.0	98.0					1																	229567637		2203	4300	6503	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229567637G>C	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.821C>G	1.37:g.229567637G>C	ENSP00000355645:p.Ala274Gly					ACTA1_ENST00000366683.2_Missense_Mutation_p.A186G	p.A274G	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			6	923	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	274		A -> E (in NEM3).			P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.821C>G	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395259	0.25205	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682	D;D	0.94897	-3.55;-3.55	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.91116	0.7203	L	0.28649	0.875	0.80722	D	1	B	0.06786	0.001	B	0.21360	0.034	D	0.88455	0.3051	10	0.87932	D	0	.	17.2969	0.87172	0.0:0.0:1.0:0.0	.	274	P68133	ACTS_HUMAN	G	274;184;186;239	ENSP00000355645:A274G;ENSP00000355644:A186G	ENSP00000312351:A184G	A	-	2	0	ACTA1	227634260	1.000000	0.71417	0.931000	0.37212	0.398000	0.30690	7.611000	0.82962	2.304000	0.77564	0.563000	0.77884	GCG		0.682	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		14	112	0	0	0	1	0	14	112				
BRWD1	54014	broad.mit.edu	37	21	40627656	40627656	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:40627656G>C	ENST00000333229.2	-	19	2497	c.2170C>G	c.(2170-2172)Cca>Gca	p.P724A	BRWD1_ENST00000342449.3_Missense_Mutation_p.P724A|BRWD1_ENST00000380800.3_Missense_Mutation_p.P724A	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	724					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGACTGCGTGGAGCGTTTTGA	0.463																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(2170-2172)Cca>Gca		bromodomain and WD repeat domain containing 1							170.0	129.0	143.0					21																	40627656		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40627656G>C	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2170C>G	21.37:g.40627656G>C	ENSP00000330753:p.Pro724Ala					BRWD1_ENST00000380800.3_Missense_Mutation_p.P724A|BRWD1_ENST00000333229.2_Missense_Mutation_p.P724A	p.P724A	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			19	2248	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	724					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.2170C>G	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.887865|4.887865	0.91814|0.91814	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800|ENST00000455867	T;T;T|.	0.60548|.	0.18;0.23;0.31|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.73410|0.73410	0.3583|0.3583	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.89917|.	0.999;0.85;0.984;1.0|.	D;P;P;D|.	0.87578|.	0.994;0.507;0.885;0.998|.	T|T	0.69837|0.69837	-0.5037|-0.5037	10|5	0.59425|.	D|.	0.04|.	-7.2281|-7.2281	19.6985|19.6985	0.96043|0.96043	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	435;435;724;724|.	Q5R2U6;Q5R2U8;Q9NSI6-2;Q9NSI6|.	.;.;.;BRWD1_HUMAN|.	A|C	724|435	ENSP00000330753:P724A;ENSP00000344333:P724A;ENSP00000370178:P724A|.	ENSP00000330753:P724A|.	P|S	-|-	1|2	0|0	BRWD1|BRWD1	39549526|39549526	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.991000|0.991000	0.79684|0.79684	9.325000|9.325000	0.96381|0.96381	2.658000|2.658000	0.90341|0.90341	0.585000|0.585000	0.79938|0.79938	CCA|TCC		0.463	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		14	50	0	0	0	1	0	14	50				
PLEKHM3	389072	broad.mit.edu	37	2	208795728	208795728	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:208795728C>A	ENST00000427836.2	-	5	2297	c.1808G>T	c.(1807-1809)cGg>cTg	p.R603L	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.R603L|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.R603L	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	603					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGCCGCAGCCGCAGCACGGC	0.612																																						ENST00000457206.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1807-1809)cGg>cTg		pleckstrin homology domain containing, family M, member 3							44.0	52.0	49.0					2																	208795728		1949	4143	6092	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208795728C>A	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1808G>T	2.37:g.208795728C>A	ENSP00000417003:p.Arg603Leu					PLEKHM3_ENST00000389247.4_Missense_Mutation_p.R603L|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.R603L	p.R603L			Q6ZWE6	PKHM3_HUMAN			5	2235	-			603					B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.1808G>T	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667288	0.67814	.	.	ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206	D;D;D	0.84146	-1.77;-1.77;-1.81	5.79	5.79	0.91817	.	0.058616	0.64402	D	0.000003	D	0.87799	0.6268	L	0.41236	1.265	0.58432	D	0.999996	D;B	0.54397	0.966;0.012	P;B	0.55615	0.78;0.011	D	0.87370	0.2350	10	0.51188	T	0.08	.	20.0292	0.97532	0.0:1.0:0.0:0.0	.	603;603	C9J119;Q6ZWE6	.;PKHM3_HUMAN	L	603	ENSP00000417003:R603L;ENSP00000373899:R603L;ENSP00000400150:R603L	ENSP00000373899:R603L	R	-	2	0	PLEKHM3	208503973	1.000000	0.71417	0.996000	0.52242	0.115000	0.19883	4.626000	0.61269	2.740000	0.93945	0.460000	0.39030	CGG		0.612	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		49	86	1	0	9.52127e-25	1	1.17703e-24	49	86				
PTPRZ1	5803	broad.mit.edu	37	7	121651351	121651351	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:121651351C>G	ENST00000393386.2	+	12	2662	c.2251C>G	c.(2251-2253)Ccg>Gcg	p.P751A	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P751A|PTPRZ1_ENST00000483028.1_3'UTR	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	751					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GACAACCCAACCGGTATACAA	0.478																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(2251-2253)Ccg>Gcg		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							170.0	153.0	159.0					7																	121651351		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651351C>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2251C>G	7.37:g.121651351C>G	ENSP00000377047:p.Pro751Ala					PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P751A	p.P751A	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	2662	+			751					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.2251C>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461219	0.43736	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.79845	0.42;-1.31	5.87	5.87	0.94306	.	0.084546	0.51477	D	0.000091	D	0.89873	0.6841	M	0.72894	2.215	0.52501	D	0.999959	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.994;0.994	D	0.89918	0.4057	10	0.87932	D	0	.	20.1998	0.98258	0.0:1.0:0.0:0.0	.	751;751;751	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	A	751	ENSP00000377047:P751A;ENSP00000410000:P751A	ENSP00000377047:P751A	P	+	1	0	PTPRZ1	121438587	1.000000	0.71417	0.967000	0.41034	0.991000	0.79684	6.188000	0.72045	2.778000	0.95560	0.655000	0.94253	CCG		0.478	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		12	111	0	0	0	1	0	12	111				
PBXIP1	57326	broad.mit.edu	37	1	154923955	154923955	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:154923955C>G	ENST00000368463.3	-	4	306	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	PBXIP1_ENST00000368465.1_Missense_Mutation_p.E50Q|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368460.3_Missense_Mutation_p.E79Q	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	79					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCTTGACCTCAGTCTCCTCT	0.577																																						ENST00000368463.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(235-237)Gag>Cag		pre-B-cell leukemia homeobox interacting protein 1							118.0	122.0	121.0					1																	154923955		2203	4300	6503	SO:0001583	missense	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154923955C>G	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.235G>C	1.37:g.154923955C>G	ENSP00000357448:p.Glu79Gln					PBXIP1_ENST00000368460.3_Missense_Mutation_p.E79Q|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368465.1_Missense_Mutation_p.E50Q|PBXIP1_ENST00000542459.1_Intron	p.E79Q	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	306	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		79					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	c.235G>C	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027815	0.35797	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000368460	T;T;T	0.20200	2.09;2.09;2.09	4.38	1.49	0.22878	.	0.662330	0.14136	N	0.339064	T	0.08447	0.0210	L	0.57536	1.79	0.24989	N	0.991541	P	0.40731	0.728	B	0.41988	0.372	T	0.21965	-1.0230	10	0.30078	T	0.28	-7.9187	6.0116	0.19580	0.0:0.6705:0.0:0.3295	.	79	Q96AQ6	PBIP1_HUMAN	Q	50;79;79;79	ENSP00000357450:E50Q;ENSP00000357448:E79Q;ENSP00000357445:E79Q	ENSP00000295523:E79Q	E	-	1	0	PBXIP1	153190579	0.068000	0.21057	0.196000	0.23383	0.266000	0.26442	0.085000	0.14912	0.145000	0.18977	0.561000	0.74099	GAG		0.577	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		6	128	0	0	0	1	0	6	128				
KIAA0368	23392	broad.mit.edu	37	9	114131328	114131328	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:114131328G>C	ENST00000338205.5	-	45	5319	c.5100C>G	c.(5098-5100)aaC>aaG	p.N1700K	KIAA0368_ENST00000465499.1_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.N1878K|KIAA0368_ENST00000374378.3_Intron			Q5VYK3	ECM29_HUMAN	KIAA0368	1706					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GGGTCTCCGCGTTTCGCGGCC	0.453																																						ENST00000259335.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(5632-5634)aaC>aaG		KIAA0368							113.0	107.0	109.0					9																	114131328		1856	4089	5945	SO:0001583	missense	23392							g.chr9:114131328G>C	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.5100C>G	9.37:g.114131328G>C	ENSP00000339889:p.Asn1700Lys					KIAA0368_ENST00000374378.3_Intron|KIAA0368_ENST00000465499.1_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.N1700K	p.N1878K	NM_001080398.1	NP_001073867.1					47	5633	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.5634C>G		.	.	.	.	.	.	.	.	.	.	G	7.203	0.593806	0.13875	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.43294	0.95	5.67	-6.08	0.02151	.	0.217127	0.46758	D	0.000262	T	0.30479	0.0766	L	0.50333	1.59	0.09310	N	0.999994	B	0.06786	0.001	B	0.08055	0.003	T	0.22243	-1.0222	10	0.18276	T	0.48	-15.4324	15.8983	0.79353	0.6182:0.0:0.3818:0.0	.	1175	B3KXF2	.	K	1700;1878;1175	ENSP00000259335:N1878K	ENSP00000259335:N1878K	N	-	3	2	KIAA0368	113171149	0.000000	0.05858	0.000000	0.03702	0.230000	0.25150	-0.415000	0.07106	-1.174000	0.02754	-0.880000	0.02959	AAC		0.453	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		6	68	0	0	0	1	0	6	68				
TINAG	27283	broad.mit.edu	37	6	54212180	54212180	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:54212180G>A	ENST00000259782.4	+	6	860	c.764G>A	c.(763-765)cGa>cAa	p.R255Q		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	255					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCTGCTGACCGAATAGCAATT	0.398																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(763-765)cGa>cAa		tubulointerstitial nephritis antigen							64.0	64.0	64.0					6																	54212180		2203	4300	6503	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54212180G>A	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.764G>A	6.37:g.54212180G>A	ENSP00000259782:p.Arg255Gln						p.R255Q	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		6	860	+	Lung NSC(77;0.0518)		255					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.764G>A	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116927	0.94385	.	.	ENSG00000137251	ENST00000259782	D	0.85013	-1.93	5.77	5.77	0.91146	Peptidase C1A, papain C-terminal (2);	0.220412	0.31847	N	0.006961	D	0.86439	0.5933	L	0.61036	1.89	0.80722	D	1	D	0.55800	0.973	P	0.51516	0.672	D	0.87748	0.2590	10	0.87932	D	0	.	18.5727	0.91142	0.0:0.0:1.0:0.0	.	255	Q9UJW2	TINAG_HUMAN	Q	255	ENSP00000259782:R255Q	ENSP00000259782:R255Q	R	+	2	0	TINAG	54320139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.975000	0.88055	2.728000	0.93425	0.591000	0.81541	CGA		0.398	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		20	26	0	0	0	1	0	20	26				
U2AF2	11338	broad.mit.edu	37	19	56180125	56180125	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:56180125C>G	ENST00000308924.4	+	9	952	c.912C>G	c.(910-912)ttC>ttG	p.F304L	CTD-2537I9.13_ENST00000592252.1_RNA|U2AF2_ENST00000450554.2_Missense_Mutation_p.F304L|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.F140L|CTD-2537I9.12_ENST00000589456.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	304	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GCTACGCCTTCTGTGAGTACG	0.622																																						ENST00000450554.2																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21						c.(910-912)ttC>ttG		U2 small nuclear RNA auxiliary factor 2							71.0	68.0	69.0					19																	56180125		2203	4300	6503	SO:0001583	missense	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56180125C>G	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.912C>G	19.37:g.56180125C>G	ENSP00000307863:p.Phe304Leu					CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000308924.4_Missense_Mutation_p.F304L|U2AF2_ENST00000590551.1_Missense_Mutation_p.F140L|CTD-2537I9.12_ENST00000585940.1_RNA	p.F304L	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	9	1871	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	304			RRM 2.		Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	c.912C>G	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406461	0.83230	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	D;T	0.82619	-1.63;1.54	4.4	3.36	0.38483	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.90397	0.6994	M	0.93420	3.415	0.58432	D	0.999996	D;P	0.54964	0.969;0.904	P;P	0.57911	0.829;0.549	D	0.90117	0.4196	10	0.62326	D	0.03	-10.9104	8.1077	0.30896	0.0:0.8095:0.0:0.1905	.	304;304	P26368;P26368-2	U2AF2_HUMAN;.	L	304	ENSP00000307863:F304L;ENSP00000388475:F304L	ENSP00000307863:F304L	F	+	3	2	U2AF2	60871937	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.314000	0.43743	0.991000	0.38814	0.655000	0.94253	TTC		0.622	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		7	89	0	0	0	1	0	7	89				
CTNNB1	1499	broad.mit.edu	37	3	41266104	41266104	+	Missense_Mutation	SNP	G	G	A	rs28931589|rs121913416		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:41266104G>A	ENST00000349496.5	+	3	381	c.101G>A	c.(100-102)gGa>gAa	p.G34E	CTNNB1_ENST00000396185.3_Missense_Mutation_p.G34E|CTNNB1_ENST00000396183.3_Missense_Mutation_p.G34E|CTNNB1_ENST00000405570.1_Missense_Mutation_p.G34E|CTNNB1_ENST00000453024.1_Missense_Mutation_p.G27E	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	34			G -> E (in PTR). {ECO:0000269|PubMed:10192393}.|G -> R (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|G -> V (in hepatoblastoma; dbSNP:rs28931589). {ECO:0000269|PubMed:9927029}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.G34E(73)|p.G34V(72)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.D32_H36>D(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.A5_I35del(1)|p.D32_H36del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CTGGACTCTGGAATCCATTCT	0.488	G34E(AGS_STOMACH)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	G34E(AGS_STOMACH)	15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	276	Substitution - Missense(145)|Deletion - In frame(105)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)	p.G34E(73)|p.G34V(72)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.D32_H36>D(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.A5_I35del(1)|p.D32_H36del(1)|p.Y30_A80del(1)	liver(146)|endometrium(30)|large_intestine(27)|stomach(21)|central_nervous_system(20)|skin(8)|pancreas(8)|ovary(6)|small_intestine(2)|lung(2)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|pituitary(1)|prostate(1)|bone(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(100-102)gGa>gAa		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						93.0	78.0	83.0					3																	41266104		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266104G>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.101G>A	3.37:g.41266104G>A	ENSP00000344456:p.Gly34Glu					CTNNB1_ENST00000405570.1_Missense_Mutation_p.G34E|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G34E|CTNNB1_ENST00000396183.3_Missense_Mutation_p.G34E|CTNNB1_ENST00000453024.1_Missense_Mutation_p.G27E	p.G34E	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	381	+			34		G -> E (in PTR).|G -> R (in hepatocellular carcinoma).|G -> V (in hepatoblastoma; dbSNP:rs28931589).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.101G>A	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678424	0.88542	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74188	-0.3746	10	0.87932	D	0	-31.2232	19.9596	0.97236	0.0:0.0:1.0:0.0	.	34	P35222	CTNB1_HUMAN	E	27;34;34;34;34;27;34;34;34	ENSP00000400508:G27E;ENSP00000385604:G34E;ENSP00000412219:G34E;ENSP00000379486:G34E;ENSP00000344456:G34E;ENSP00000411226:G27E;ENSP00000379488:G34E;ENSP00000409302:G34E;ENSP00000401599:G34E	ENSP00000344456:G34E	G	+	2	0	CTNNB1	41241108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.726000	0.93360	0.655000	0.94253	GGA		0.488	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		12	26	0	0	0	1	0	12	26				
NR3C2	4306	broad.mit.edu	37	4	149073729	149073729	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:149073729G>C	ENST00000358102.3	-	6	2763	c.2401C>G	c.(2401-2403)Cta>Gta	p.L801V	NR3C2_ENST00000512865.1_Missense_Mutation_p.L684V|NR3C2_ENST00000355292.3_Missense_Mutation_p.L805V|NR3C2_ENST00000344721.4_Missense_Mutation_p.L801V|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000511528.1_Missense_Mutation_p.L805V|RP11-76G10.1_ENST00000514843.1_RNA	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	801	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TACTGGATTAGGGTAATTTGG	0.373																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2413-2415)Cta>Gta		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						107.0	104.0	105.0					4																	149073729		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149073729G>C	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2401C>G	4.37:g.149073729G>C	ENSP00000350815:p.Leu801Val					NR3C2_ENST00000511528.1_Missense_Mutation_p.L805V|NR3C2_ENST00000344721.4_Missense_Mutation_p.L801V|NR3C2_ENST00000512865.1_Missense_Mutation_p.L684V|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000358102.3_Missense_Mutation_p.L801V|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000503313.1_5'UTR	p.L805V			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	6	2775	-	all_hematologic(180;0.151)		801		S -> P (in AD-PHA1).	Steroid-binding.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.2413C>G	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142630	0.57044	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000511528	D;D;D;D;D	0.99136	-5.47;-5.47;-5.47;-5.47;-5.47	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	D	0.98937	0.9639	M	0.72479	2.2	0.51767	D	0.999934	D;P	0.71674	0.998;0.927	D;D	0.81914	0.995;0.912	D	0.98411	1.0572	9	.	.	.	.	9.9242	0.41483	0.1553:0.0:0.8447:0.0	.	684;801	B0ZBF5;B0ZBF6	.;.	V	801;805;801;684;805	ENSP00000341390:L801V;ENSP00000347441:L805V;ENSP00000350815:L801V;ENSP00000423510:L684V;ENSP00000421481:L805V	.	L	-	1	2	NR3C2	149293179	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.834000	0.69361	2.665000	0.90641	0.591000	0.81541	CTA		0.373	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			4	46	0	0	0	1	0	4	46				
STRADA	92335	broad.mit.edu	37	17	61787903	61787903	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:61787903G>C	ENST00000336174.6	-	8	641	c.529C>G	c.(529-531)Cag>Gag	p.Q177E	STRADA_ENST00000447001.3_Missense_Mutation_p.Q133E|STRADA_ENST00000582137.1_Missense_Mutation_p.Q148E|STRADA_ENST00000245865.5_Missense_Mutation_p.Q119E|STRADA_ENST00000580039.1_5'UTR|RP11-51F16.8_ENST00000580553.1_Intron|STRADA_ENST00000392950.4_Missense_Mutation_p.Q140E|STRADA_ENST00000375840.4_Missense_Mutation_p.Q119E|STRADA_ENST00000579340.1_Missense_Mutation_p.Q119E	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	177	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						AGCACCCCCTGCAGGATGTAA	0.512																																						ENST00000245865.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						c.(355-357)Cag>Gag		STE20-related kinase adaptor alpha							105.0	87.0	93.0					17																	61787903		2203	4300	6503	SO:0001583	missense	92335				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity	g.chr17:61787903G>C	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.529C>G	17.37:g.61787903G>C	ENSP00000336655:p.Gln177Glu					STRADA_ENST00000582137.1_Missense_Mutation_p.Q148E|STRADA_ENST00000392950.4_Missense_Mutation_p.Q140E|RP11-51F16.8_ENST00000580553.1_Intron|STRADA_ENST00000375840.4_Missense_Mutation_p.Q119E|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000336174.6_Missense_Mutation_p.Q177E|STRADA_ENST00000579340.1_Missense_Mutation_p.Q119E|STRADA_ENST00000447001.3_Missense_Mutation_p.Q133E	p.Q119E			Q7RTN6	STRAA_HUMAN			7	564	-			177			Protein kinase.		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Missense_Mutation	SNP	ENST00000336174.6	37	c.355C>G	CCDS32703.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416867	0.25552	.	.	ENSG00000125695	ENST00000336174;ENST00000375840;ENST00000447001;ENST00000392950;ENST00000245865	T;T;T;T	0.73681	-0.77;-0.77;-0.77;1.84	5.76	5.76	0.90799	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.269718	0.38778	N	0.001563	T	0.63402	0.2508	N	0.16016	0.355	0.48571	D	0.999674	P;P;B;B;P;P;P	0.44260	0.83;0.83;0.425;0.005;0.604;0.604;0.656	B;B;B;B;B;B;B	0.43754	0.43;0.222;0.158;0.004;0.085;0.131;0.195	T	0.65615	-0.6125	10	0.39692	T	0.17	.	15.458	0.75330	0.0:0.138:0.862:0.0	.	148;133;119;119;140;140;177	B4DW17;B4DDE3;Q5JPI2;Q86YC8;Q7RTN6-2;Q7RTN6-3;Q7RTN6	.;.;.;.;.;.;STRAA_HUMAN	E	177;119;133;140;139	ENSP00000336655:Q177E;ENSP00000365000:Q119E;ENSP00000398841:Q133E;ENSP00000376677:Q140E	ENSP00000245865:Q139E	Q	-	1	0	STRADA	59141635	1.000000	0.71417	1.000000	0.80357	0.192000	0.23643	7.513000	0.81739	2.719000	0.93026	0.555000	0.69702	CAG		0.512	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1			7	44	0	0	0	1	0	7	44				
SOBP	55084	broad.mit.edu	37	6	107955276	107955276	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:107955276C>G	ENST00000317357.5	+	6	1887	c.1228C>G	c.(1228-1230)Ccc>Gcc	p.P410A		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GATCCGCCCGCCCTTCATCCG	0.697																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(1228-1230)Ccc>Gcc		sine oculis binding protein homolog (Drosophila)							57.0	66.0	63.0					6																	107955276		2009	4171	6180	SO:0001583	missense	55084						metal ion binding	g.chr6:107955276C>G	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1228C>G	6.37:g.107955276C>G	ENSP00000318900:p.Pro410Ala						p.P410A	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	1887	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	410			Pro-rich.			Missense_Mutation	SNP	ENST00000317357.5	37	c.1228C>G	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	c	19.32	3.805392	0.70682	.	.	ENSG00000112320	ENST00000317357;ENST00000230065	T	0.39787	1.06	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.53626	0.1808	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56661	-0.7942	10	0.87932	D	0	-1.8584	19.2866	0.94077	0.0:1.0:0.0:0.0	.	410	A7XYQ1	SOBP_HUMAN	A	410;7	ENSP00000318900:P410A	ENSP00000230065:P7A	P	+	1	0	SOBP	108061969	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.148000	0.77389	2.549000	0.85964	0.556000	0.70494	CCC		0.697	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		30	152	0	0	0	1	0	30	152				
XK	7504	broad.mit.edu	37	X	37545253	37545253	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:37545253G>C	ENST00000378616.3	+	1	242	c.39G>C	c.(37-39)ctG>ctC	p.L13L	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	13					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				CCGTGTTCCTGTTCGTGGCCG	0.692																																						ENST00000378616.3																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(37-39)ctG>ctC		X-linked Kx blood group (McLeod syndrome)							19.0	17.0	18.0					X																	37545253		2201	4286	6487	SO:0001819	synonymous_variant	7504				amino acid transport	integral to membrane	protein binding|transporter activity	g.chrX:37545253G>C	Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.39G>C	X.37:g.37545253G>C						TM4SF2_ENST00000465127.1_Intron	p.L13L	NM_021083.2	NP_066569.1	P51811	XK_HUMAN			1	242	+		all_lung(315;0.175)	13					Q4TTN6|Q8IUK6|Q9UC77	Silent	SNP	ENST00000378616.3	37	c.39G>C	CCDS14241.1																																																																																				0.692	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083		10	13	0	0	0	1	0	10	13				
ZNF232	7775	broad.mit.edu	37	17	5012344	5012344	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:5012344G>C	ENST00000250076.3	-	4	1156	c.502C>G	c.(502-504)Cca>Gca	p.P168A	ZNF232_ENST00000575898.1_Missense_Mutation_p.P168A|AC012146.7_ENST00000413077.1_RNA|ZNF232_ENST00000416429.2_3'UTR|AC012146.7_ENST00000571138.1_RNA|ZNF232_ENST00000575538.1_5'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	141					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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GCAGGGCCTGGGACCTGGAGG	0.537																																						ENST00000250076.3																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						c.(502-504)Cca>Gca		zinc finger protein 232							85.0	83.0	84.0					17																	5012344		2203	4300	6503	SO:0001583	missense	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5012344G>C	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.502C>G	17.37:g.5012344G>C	ENSP00000250076:p.Pro168Ala					ZNF232_ENST00000575898.1_Missense_Mutation_p.P168A|ZNF232_ENST00000575538.1_5'UTR|ZNF232_ENST00000416429.2_3'UTR	p.P168A	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN			4	1156	-			141						Missense_Mutation	SNP	ENST00000250076.3	37	c.502C>G	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645194	0.29246	.	.	ENSG00000167840	ENST00000250076	T	0.07114	3.22	3.84	1.53	0.23141	Transcription regulator SCAN (1);	0.000000	0.32287	N	0.006316	T	0.03305	0.0096	N	0.08118	0	0.80722	D	1	P;P	0.46142	0.799;0.873	B;B	0.40982	0.187;0.345	T	0.51490	-0.8699	10	0.08837	T	0.75	.	7.713	0.28688	0.0:0.1782:0.6392:0.1825	.	141;141	Q9UNY5;Q9UNY5-2	ZN232_HUMAN;.	A	168	ENSP00000250076:P168A	ENSP00000250076:P168A	P	-	1	0	ZNF232	4953068	0.995000	0.38212	0.794000	0.32065	0.984000	0.73092	0.694000	0.25512	0.876000	0.35872	0.655000	0.94253	CCA		0.537	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		23	85	0	0	0	1	0	23	85				
RGL2	5863	broad.mit.edu	37	6	33261401	33261401	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:33261401C>T	ENST00000497454.1	-	14	2079	c.1584G>A	c.(1582-1584)ttG>ttA	p.L528L	RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_3'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	528					positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GCGAGATGACCAATGTTGGCC	0.582																																						ENST00000497454.1																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(1582-1584)ttG>ttA		ral guanine nucleotide dissociation stimulator-like 2							62.0	65.0	64.0					6																	33261401		2203	4300	6503	SO:0001819	synonymous_variant	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33261401C>T		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1584G>A	6.37:g.33261401C>T						RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_3'UTR|PFDN6_ENST00000463584.1_Intron	p.L528L	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN			14	2079	-			528					B4DG72|Q5STK0|Q9Y3F3	Silent	SNP	ENST00000497454.1	37	c.1584G>A	CCDS4774.1																																																																																				0.582	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			26	49	0	0	0	1	0	26	49				
CXCR3	2833	broad.mit.edu	37	X	70837232	70837232	+	Silent	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:70837232T>C	ENST00000373693.3	-	2	157	c.90A>G	c.(88-90)ggA>ggG	p.G30G	CXCR3_ENST00000373691.4_Silent_p.G77G	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	30					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					TCTCGTTTTCTCCATAGTCAT	0.602																																						ENST00000373691.4																			0				breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10						c.(229-231)ggA>ggG		chemokine (C-X-C motif) receptor 3							59.0	62.0	61.0					X																	70837232		2203	4299	6502	SO:0001819	synonymous_variant	2833				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity	g.chrX:70837232T>C	U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.90A>G	X.37:g.70837232T>C						CXCR3_ENST00000373693.3_Silent_p.G30G	p.G77G	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN			2	394	-	Renal(35;0.156)		30					B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Silent	SNP	ENST00000373693.3	37	c.231A>G	CCDS14416.1																																																																																				0.602	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144141.1			13	33	0	0	0	1	0	13	33				
SLC6A11	6538	broad.mit.edu	37	3	10861256	10861256	+	Silent	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:10861256T>C	ENST00000254488.2	+	2	429	c.363T>C	c.(361-363)tgT>tgC	p.C121C	SLC6A11_ENST00000454147.1_Silent_p.C121C	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	121					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	GCATTACGTGTTGGAGGAAAG	0.408																																						ENST00000254488.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(361-363)tgT>tgC		solute carrier family 6 (neurotransmitter transporter), member 11							186.0	178.0	181.0					3																	10861256		2203	4300	6503	SO:0001819	synonymous_variant	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10861256T>C	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.363T>C	3.37:g.10861256T>C						SLC6A11_ENST00000454147.1_Silent_p.C121C	p.C121C	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	2	429	+			121					B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	c.363T>C	CCDS2602.1																																																																																				0.408	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		39	53	0	0	0	1	0	39	53				
ZNF714	148206	broad.mit.edu	37	19	21299746	21299746	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:21299746G>C	ENST00000596143.1	+	5	601	c.276G>C	c.(274-276)gtG>gtC	p.V92V	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CCGCAAATGTGGTTGAGTGTA	0.343																																						ENST00000596143.1																			0				endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						c.(274-276)gtG>gtC		zinc finger protein 714							55.0	57.0	56.0					19																	21299746		2193	4297	6490	SO:0001819	synonymous_variant	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21299746G>C	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.276G>C	19.37:g.21299746G>C						ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR	p.V92V	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN			5	601	+			92					Q49AI1|Q86W65|Q8ND40	Silent	SNP	ENST00000596143.1	37	c.276G>C	CCDS54239.1																																																																																				0.343	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		7	39	0	0	0	1	0	7	39				
VWA3B	200403	broad.mit.edu	37	2	98920189	98920189	+	Missense_Mutation	SNP	A	A	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:98920189A>T	ENST00000477737.1	+	26	3649	c.3445A>T	c.(3445-3447)Att>Ttt	p.I1149F	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1149										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAGTGCACTTATTAAGATCAG	0.383																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(3445-3447)Att>Ttt		von Willebrand factor A domain containing 3B							136.0	118.0	123.0					2																	98920189		1857	4100	5957	SO:0001583	missense	200403							g.chr2:98920189A>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3445A>T	2.37:g.98920189A>T	ENSP00000417955:p.Ile1149Phe					VWA3B_ENST00000490947.2_3'UTR	p.I1149F	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			26	3649	+			1149					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.3445A>T	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.3|20.3	3.975700|3.975700	0.74360|0.74360	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737;ENST00000358269|ENST00000473149	T|.	0.22743|.	1.94|.	4.47|4.47	4.47|4.47	0.54385|0.54385	.|.	0.243724|.	0.18819|.	U|.	0.130300|.	T|T	0.60818|0.60818	0.2298|0.2298	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.85130|.	0.997;0.975|.	T|T	0.59010|0.59010	-0.7534|-0.7534	10|5	0.72032|.	D|.	0.01|.	.|.	10.3223|10.3223	0.43773|0.43773	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	541;1149|.	Q502W6-5;Q502W6|.	.;VWA3B_HUMAN|.	F|F	1149;271|559	ENSP00000417955:I1149F|.	ENSP00000351009:I271F|.	I|Y	+|+	1|2	0|0	VWA3B|VWA3B	98286621|98286621	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	3.589000|3.589000	0.53972|0.53972	2.014000|2.014000	0.59158|0.59158	0.528000|0.528000	0.53228|0.53228	ATT|TAT		0.383	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		17	22	0	0	0	1	0	17	22				
PRICKLE2	166336	broad.mit.edu	37	3	64084932	64084932	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:64084932G>C	ENST00000295902.6	-	8	2915	c.2330C>G	c.(2329-2331)aCc>aGc	p.T777S	PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.T833S|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	777					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGAGGAGCAGGTGGAACACCA	0.592																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2329-2331)aCc>aGc		prickle homolog 2 (Drosophila)							72.0	74.0	74.0					3																	64084932		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64084932G>C	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2330C>G	3.37:g.64084932G>C	ENSP00000295902:p.Thr777Ser					RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.T833S	p.T777S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2915	-		Lung NSC(201;0.136)	777					Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.2330C>G	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200621	0.58126	.	.	ENSG00000163637	ENST00000295902	D	0.86497	-2.13	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.88336	0.6409	L	0.41710	1.295	0.80722	D	1	D	0.60575	0.988	P	0.54759	0.76	D	0.84894	0.0838	10	0.22109	T	0.4	-45.1801	19.9066	0.97010	0.0:0.0:1.0:0.0	.	777	Q7Z3G6	PRIC2_HUMAN	S	777	ENSP00000295902:T777S	ENSP00000295902:T777S	T	-	2	0	PRICKLE2	64059972	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.420000	0.97426	2.779000	0.95612	0.655000	0.94253	ACC		0.592	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		3	42	0	0	0	1	0	3	42				
STEAP3	55240	broad.mit.edu	37	2	120012260	120012260	+	Splice_Site	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:120012260G>C	ENST00000354888.5	+	5	1525	c.1021G>C	c.(1021-1023)Gtc>Ctc	p.V341L	STEAP3_ENST00000393110.2_Splice_Site_p.V351L|STEAP3_ENST00000393107.2_Splice_Site_p.V341L|STEAP3_ENST00000450943.2_Splice_Site_p.V341L|STEAP3_ENST00000393106.2_Splice_Site_p.V341L|STEAP3_ENST00000393108.2_Splice_Site_p.V341L|STEAP3_ENST00000409811.1_Splice_Site_p.V341L|STEAP3_ENST00000425223.2_Splice_Site_p.V341L	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	341	Ferric oxidoreductase.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TCCATGTCAGGTCTTGGCCAA	0.597																																						ENST00000354888.5																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.e5-1		STEAP family member 3, metalloreductase							104.0	95.0	98.0					2																	120012260		2203	4300	6503	SO:0001630	splice_region_variant	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120012260G>C	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.1021-1G>C	2.37:g.120012260G>C						STEAP3_ENST00000393110.2_Splice_Site_p.V351_splice|STEAP3_ENST00000393108.2_Splice_Site_p.V341_splice|STEAP3_ENST00000450943.2_Splice_Site_p.V341_splice|STEAP3_ENST00000409811.1_Splice_Site_p.V341_splice|STEAP3_ENST00000393107.2_Splice_Site_p.V341_splice|STEAP3_ENST00000425223.2_Splice_Site_p.V341_splice|STEAP3_ENST00000393106.2_Splice_Site_p.V341_splice	p.V341_splice	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN			5	1525	+			341			Ferric oxidoreductase.		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Splice_Site	SNP	ENST00000354888.5	37	c.1020_splice	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266921	0.80469	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	T;T;T;T;T;T;T;T	0.10192	3.08;3.08;2.9;3.07;3.08;2.9;3.08;3.08	5.29	5.29	0.74685	Flavoprotein transmembrane component (1);	0.076076	0.53938	D	0.000060	T	0.24586	0.0596	M	0.78801	2.425	0.51233	D	0.999917	P;P;B	0.49253	0.921;0.834;0.156	P;B;B	0.48524	0.58;0.426;0.12	T	0.00817	-1.1554	9	.	.	.	-46.2945	18.0968	0.89493	0.0:0.0:1.0:0.0	.	341;351;341	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	L	341;341;341;351;341;341;341;341	ENSP00000376820:V341L;ENSP00000346961:V341L;ENSP00000396873:V341L;ENSP00000376822:V351L;ENSP00000376818:V341L;ENSP00000386510:V341L;ENSP00000376819:V341L;ENSP00000396214:V341L	.	V	+	1	0	STEAP3	119728730	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.900000	0.69853	2.756000	0.94617	0.561000	0.74099	GTC		0.597	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234	Missense_Mutation	9	59	0	0	0	1	0	9	59				
NALCN	259232	broad.mit.edu	37	13	101910915	101910915	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:101910915C>A	ENST00000251127.6	-	11	1226	c.1145G>T	c.(1144-1146)cGg>cTg	p.R382L	NALCN_ENST00000376196.3_Missense_Mutation_p.R382L|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	382					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACGGATGACCGCATCATTTT	0.463																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(1144-1146)cGg>cTg		sodium leak channel, non-selective							65.0	56.0	59.0					13																	101910915		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101910915C>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1145G>T	13.37:g.101910915C>A	ENSP00000251127:p.Arg382Leu					NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R382L	p.R382L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			11	1226	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		382					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.1145G>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724445	0.89298	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98400	-4.54;-4.91	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.97829	0.9287	L	0.55990	1.75	0.80722	D	1	P;P;P	0.52061	0.95;0.94;0.95	P;P;P	0.50049	0.629;0.522;0.605	D	0.97814	1.0252	10	0.51188	T	0.08	.	19.4154	0.94694	0.0:1.0:0.0:0.0	.	382;382;382	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	L	382	ENSP00000251127:R382L;ENSP00000365367:R382L	ENSP00000251127:R382L	R	-	2	0	NALCN	100708916	1.000000	0.71417	0.997000	0.53966	0.678000	0.39670	7.350000	0.79385	2.884000	0.98904	0.655000	0.94253	CGG		0.463	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		14	34	1	0	1.52009e-12	1	1.73276e-12	14	34				
ARID1A	8289	broad.mit.edu	37	1	27101099	27101099	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:27101099C>T	ENST00000324856.7	+	18	4752	c.4381C>T	c.(4381-4383)Cga>Tga	p.R1461*	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1078*|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1461					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAGTTTGGCCGAGACCGTGT	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(4381-4383)Cga>Tga		AT rich interactive domain 1A (SWI-like)							69.0	72.0	71.0					1																	27101099		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101099C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4381C>T	1.37:g.27101099C>T	ENSP00000320485:p.Arg1461*					ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1078*	p.R1461*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	18	4752	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1461					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.4381C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.535531|10.535531	0.99423|0.99423	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000374152	.|.	.|.	.|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.41926|.	0.1180|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27773|.	-1.0064|.	4|.	.|0.02654	.|T	.|1	-6.6842|-6.6842	14.2897|14.2897	0.66268|0.66268	0.1829:0.8171:0.0:0.0|0.1829:0.8171:0.0:0.0	.|.	.|.	.|.	.|.	L|X	357|1461;1078	.|.	.|ENSP00000320485:R1461X	P|R	+|+	2|1	0|2	ARID1A|ARID1A	26973686|26973686	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.262000|2.262000	0.43285|0.43285	2.890000|2.890000	0.99128|0.99128	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.582	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		32	15	0	0	0	1	0	32	15				
CSMD3	114788	broad.mit.edu	37	8	113275901	113275901	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:113275901C>A	ENST00000297405.5	-	61	10073	c.9829G>T	c.(9829-9831)Ggt>Tgt	p.G3277C	CSMD3_ENST00000352409.3_Missense_Mutation_p.G3207C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3237C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3108C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3277	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G3277S(1)|p.G3237S(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTCCAGGTACCATTCCCTACA	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			2	Substitution - Missense(2)	p.G3277S(1)|p.G3237S(1)	lung(2)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(9829-9831)Ggt>Tgt		CUB and Sushi multiple domains 3							97.0	82.0	87.0					8																	113275901		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113275901C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9829G>T	8.37:g.113275901C>A	ENSP00000297405:p.Gly3277Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.G3207C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3237C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3108C	p.G3277C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			61	10073	-			3277			Sushi 25.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9829G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793488	0.90453	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.91761	0.7394	H	0.99238	4.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	D	0.94772	0.7946	10	0.87932	D	0	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	3108;3277;3237	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	3237;3277;2547;3108;3207	ENSP00000345799:G3237C;ENSP00000297405:G3277C;ENSP00000341558:G2547C;ENSP00000412263:G3108C;ENSP00000343124:G3207C	ENSP00000297405:G3277C	G	-	1	0	CSMD3	113345077	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.815000	0.86186	2.713000	0.92767	0.655000	0.94253	GGT		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		5	47	1	0	0.014758	1	0.0150519	5	47				
IFI44L	10964	broad.mit.edu	37	1	79093737	79093737	+	Missense_Mutation	SNP	G	G	A	rs149202070		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:79093737G>A	ENST00000370751.5	+	2	316	c.137G>A	c.(136-138)cGt>cAt	p.R46H	IFI44L_ENST00000342282.3_Intron|IFI44L_ENST00000476521.1_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	46					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)		p.R7H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AGATGCAGCCGTCAGGGATGT	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17690	0.0		0.0	False		,,,				2504	0.0					ENST00000370751.4																			1	Substitution - Missense(1)	p.R7H(1)	endometrium(1)	endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(136-138)cGt>cAt		interferon-induced protein 44-like		G	HIS/ARG	6,4400	12.9+/-30.5	0,6,2197	76.0	78.0	77.0		137	-6.3	0.0	1	dbSNP_134	77	0,8600		0,0,4300	yes	missense	IFI44L	NM_006820.2	29	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	benign	46/453	79093737	6,13000	2203	4300	6503	SO:0001583	missense	10964					cytoplasm		g.chr1:79093737G>A	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.137G>A	1.37:g.79093737G>A	ENSP00000359787:p.Arg46His					IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	p.R46H	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN			2	316	+			46					Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	c.137G>A	CCDS687.2	.	.	.	.	.	.	.	.	.	.	G	2.853	-0.237925	0.05944	0.001362	0.0	ENSG00000137959	ENST00000452835;ENST00000370751;ENST00000450498	T;T;T	0.30448	1.53;3.14;2.54	3.41	-6.31	0.02001	.	1.843670	0.03430	N	0.207711	T	0.02494	0.0076	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18618	-1.0331	10	0.13470	T	0.59	5.3548	4.4299	0.11522	0.3504:0.0:0.3938:0.2558	.	46	Q53G44	IF44L_HUMAN	H	46;46;23	ENSP00000409914:R46H;ENSP00000359787:R46H;ENSP00000400784:R23H	ENSP00000359787:R46H	R	+	2	0	IFI44L	78866325	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.500000	0.06405	-1.396000	0.02071	-0.839000	0.03059	CGT		0.363	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		24	44	0	0	0	1	0	24	44				
MTFR2	113115	broad.mit.edu	37	6	136560841	136560841	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:136560841G>C	ENST00000420702.1	-	6	1021	c.632C>G	c.(631-633)cCt>cGt	p.P211R	MTFR2_ENST00000451457.2_Missense_Mutation_p.P211R	NM_001099286.1	NP_001092756.1	Q6P444	MTFR2_HUMAN	mitochondrial fission regulator 2	211	Pro-rich.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	mitochondrion (GO:0005739)											aagtggtggaggaggaggagg	0.512																																						ENST00000420702.1																			0											c.(631-633)cCt>cGt		mitochondrial fission regulator 2							68.0	60.0	63.0					6																	136560841		2203	4300	6503	SO:0001583	missense	113115							g.chr6:136560841G>C	BC011716	CCDS5176.1	6q23.2	2012-11-30	2012-11-29	2012-11-29	ENSG00000146410	ENSG00000146410			21115	protein-coding gene	gene with protein product			"""DUF729 domain containing 1"", ""family with sequence similarity 54, member A"""	DUFD1, FAM54A			Standard	NM_138419		Approved		uc003qgt.1	Q6P444	OTTHUMG00000015643	ENST00000420702.1:c.632C>G	6.37:g.136560841G>C	ENSP00000395232:p.Pro211Arg					MTFR2_ENST00000451457.2_Missense_Mutation_p.P211R	p.P211R	NM_001099286.1	NP_001092756.1					6	1021	-								A8K8D8|E1P585|Q5JWR7|Q6ZUE8|Q7L3U6|Q9BZ39	Missense_Mutation	SNP	ENST00000420702.1	37	c.632C>G	CCDS5176.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239334	0.79800	.	.	ENSG00000146410	ENST00000451457;ENST00000420702;ENST00000418509	T;T;T	0.59224	0.28;0.28;0.28	5.63	5.63	0.86233	.	0.116551	0.64402	D	0.000018	T	0.64983	0.2648	M	0.75777	2.31	0.50171	D	0.999857	D	0.76494	0.999	D	0.73380	0.98	T	0.62704	-0.6798	10	0.09590	T	0.72	-12.159	16.6127	0.84892	0.0:0.0:1.0:0.0	.	211	Q6P444	FA54A_HUMAN	R	211;211;168	ENSP00000407010:P211R;ENSP00000395232:P211R;ENSP00000410861:P168R	ENSP00000410861:P168R	P	-	2	0	FAM54A	136602534	0.990000	0.36364	0.714000	0.30535	0.262000	0.26303	4.652000	0.61454	2.659000	0.90383	0.650000	0.86243	CCT		0.512	MTFR2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042378.2	NM_138419		6	45	0	0	0	1	0	6	45				
EMILIN2	84034	broad.mit.edu	37	18	2847887	2847887	+	Missense_Mutation	SNP	A	A	T	rs575376753	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:2847887A>T	ENST00000254528.3	+	2	374	c.215A>T	c.(214-216)tAc>tTc	p.Y72F		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	72	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAGGCTCAGTACAACTGTGCC	0.647																																						ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(214-216)tAc>tTc		elastin microfibril interfacer 2							84.0	75.0	78.0					18																	2847887		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2847887A>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.215A>T	18.37:g.2847887A>T	ENSP00000254528:p.Tyr72Phe						p.Y72F	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	2	374	+			72			EMI.		B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.215A>T	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.334904	0.41297	.	.	ENSG00000132205	ENST00000254528	T	0.42900	0.96	5.46	4.28	0.50868	EMI domain (2);	0.000000	0.56097	D	0.000028	T	0.36441	0.0967	L	0.46567	1.45	0.37823	D	0.928465	P	0.37548	0.599	B	0.38296	0.27	T	0.20605	-1.0270	10	0.23302	T	0.38	-8.9673	12.4302	0.55569	0.8595:0.1405:0.0:0.0	.	72	Q9BXX0	EMIL2_HUMAN	F	72	ENSP00000254528:Y72F	ENSP00000254528:Y72F	Y	+	2	0	EMILIN2	2837887	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.169000	0.58223	0.871000	0.35750	0.454000	0.30748	TAC		0.647	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		21	36	0	0	0	1	0	21	36				
P4HA2	8974	broad.mit.edu	37	5	131543487	131543487	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:131543487C>G	ENST00000401867.1	-	9	1562	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	P4HA2_ENST00000166534.4_Missense_Mutation_p.E332Q|P4HA2_ENST00000379086.1_Missense_Mutation_p.E332Q|P4HA2_ENST00000379104.2_Missense_Mutation_p.E332Q|P4HA2_ENST00000379100.2_Missense_Mutation_p.E332Q|P4HA2_ENST00000360568.3_Missense_Mutation_p.E332Q			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	332					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CTGTCCCACTCGTCCTCCTCT	0.527																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(994-996)Gag>Cag		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						206.0	184.0	192.0					5																	131543487		2203	4300	6503	SO:0001583	missense	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131543487C>G	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.994G>C	5.37:g.131543487C>G	ENSP00000384999:p.Glu332Gln					P4HA2_ENST00000379104.2_Missense_Mutation_p.E332Q|P4HA2_ENST00000360568.3_Missense_Mutation_p.E332Q|P4HA2_ENST00000379100.2_Missense_Mutation_p.E332Q|P4HA2_ENST00000166534.4_Missense_Mutation_p.E332Q|P4HA2_ENST00000379086.1_Missense_Mutation_p.E332Q	p.E332Q			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1562	-		all_cancers(142;0.103)|Breast(839;0.198)	332					D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	c.994G>C	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906400	0.92107	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.44083	0.94;0.93;0.94;0.93;0.94;0.93	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.71542	0.3352	M	0.88570	2.965	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.70935	0.932;0.971	T	0.72367	-0.4315	10	0.46703	T	0.11	-17.9582	20.5827	0.99408	0.0:1.0:0.0:0.0	.	332;332	O15460;O15460-2	P4HA2_HUMAN;.	Q	332	ENSP00000384999:E332Q;ENSP00000368379:E332Q;ENSP00000166534:E332Q;ENSP00000353772:E332Q;ENSP00000368398:E332Q;ENSP00000368394:E332Q	ENSP00000166534:E332Q	E	-	1	0	P4HA2	131571386	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	GAG		0.527	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		24	146	0	0	0	1	0	24	146				
CAPRIN2	65981	broad.mit.edu	37	12	30884431	30884431	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:30884431C>G	ENST00000395805.2	-	6	1453	c.906G>C	c.(904-906)aaG>aaC	p.K302N	CAPRIN2_ENST00000538387.1_Intron|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.K302N|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.K302N|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.K302N	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACAGTAGATCCTTCAAGTGTT	0.353																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(904-906)aaG>aaC		caprin family member 2							97.0	95.0	96.0					12																	30884431		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30884431C>G	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.906G>C	12.37:g.30884431C>G	ENSP00000379150:p.Lys302Asn					CAPRIN2_ENST00000417045.1_Missense_Mutation_p.K302N|CAPRIN2_ENST00000538387.1_Intron|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.K302N|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.K302N|CAPRIN2_ENST00000308433.5_5'UTR	p.K302N	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			6	1656	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		302						Missense_Mutation	SNP	ENST00000395805.2	37	c.906G>C	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391135	0.62066	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T	0.33438	1.41;1.83;1.83;1.83;1.83;1.83	5.43	3.08	0.35506	.	0.111454	0.64402	D	0.000008	T	0.45397	0.1340	L	0.61218	1.895	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.999;0.986;0.997;0.996	T	0.39078	-0.9631	10	0.62326	D	0.03	-18.5442	4.3156	0.10991	0.0:0.3873:0.0:0.6127	.	302;302;302;302;302	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;CAPR2_HUMAN;.;.	N	48;302;302;302;302;28;221	ENSP00000415407:K48N;ENSP00000298892:K302N;ENSP00000379150:K302N;ENSP00000251071:K302N;ENSP00000391479:K302N;ENSP00000438010:K221N	ENSP00000251071:K302N	K	-	3	2	CAPRIN2	30775698	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.010000	0.40913	0.884000	0.36064	-0.295000	0.09555	AAG		0.353	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		19	34	0	0	0	1	0	19	34				
TENM1	10178	broad.mit.edu	37	X	123779070	123779070	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:123779070G>A	ENST00000371130.3	-	10	1862	c.1799C>T	c.(1798-1800)aCa>aTa	p.T600I	TENM1_ENST00000422452.2_Missense_Mutation_p.T600I	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	600	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCCAAAGCATGTTGGATCAAT	0.502																																						ENST00000422452.2																			0											c.(1798-1800)aCa>aTa		teneurin transmembrane protein 1							240.0	205.0	217.0					X																	123779070		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123779070G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1799C>T	X.37:g.123779070G>A	ENSP00000360171:p.Thr600Ile					TENM1_ENST00000371130.3_Missense_Mutation_p.T600I	p.T600I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					10	1862	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.1799C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082394	0.76528	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.03301	3.98;3.98	5.32	5.32	0.75619	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.11110	0.0271	N	0.25992	0.78	0.80722	D	1	D;D;P	0.76494	0.999;0.985;0.683	D;P;B	0.78314	0.991;0.789;0.27	T	0.12477	-1.0546	10	0.66056	D	0.02	.	18.0549	0.89361	0.0:0.0:1.0:0.0	.	599;600;600	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	I	600	ENSP00000360171:T600I;ENSP00000403954:T600I	ENSP00000360171:T600I	T	-	2	0	ODZ1	123606751	1.000000	0.71417	0.934000	0.37439	0.950000	0.60333	7.903000	0.87398	2.199000	0.70637	0.600000	0.82982	ACA		0.502	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		110	180	0	0	0	1	0	110	180				
BSX	390259	broad.mit.edu	37	11	122848512	122848512	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:122848512C>G	ENST00000343035.2	-	3	595	c.547G>C	c.(547-549)Gaa>Caa	p.E183Q		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	183					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		TCGGGGCTTTCTGGCCCGTCT	0.642																																						ENST00000343035.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(547-549)Gaa>Caa		brain-specific homeobox							46.0	49.0	48.0					11																	122848512		1866	4099	5965	SO:0001583	missense	390259							g.chr11:122848512C>G		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.547G>C	11.37:g.122848512C>G	ENSP00000344285:p.Glu183Gln						p.E183Q	NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	3	595	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	183						Missense_Mutation	SNP	ENST00000343035.2	37	c.547G>C	CCDS41728.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311885	0.40895	.	.	ENSG00000188909	ENST00000343035	D	0.92911	-3.13	5.4	5.4	0.78164	.	0.170560	0.53938	D	0.000056	D	0.85418	0.5692	N	0.19112	0.55	0.51233	D	0.99991	B	0.23058	0.079	B	0.28849	0.095	T	0.80301	-0.1440	10	0.19147	T	0.46	.	12.5094	0.55999	0.0:0.9237:0.0:0.0763	.	183	Q3C1V8	BSH_HUMAN	Q	183	ENSP00000344285:E183Q	ENSP00000344285:E183Q	E	-	1	0	BSX	122353722	0.999000	0.42202	0.947000	0.38551	0.409000	0.31022	4.111000	0.57838	2.516000	0.84829	0.561000	0.74099	GAA		0.642	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		11	42	0	0	0	1	0	11	42				
HTT	3064	broad.mit.edu	37	4	3129100	3129100	+	Silent	SNP	A	A	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:3129100A>T	ENST00000355072.5	+	12	1657	c.1512A>T	c.(1510-1512)acA>acT	p.T504T		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	504					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CACAGCACACACTGCAGGCGG	0.562																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(1510-1512)acA>acT		huntingtin							60.0	65.0	63.0					4																	3129100		2180	4278	6458	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3129100A>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.1512A>T	4.37:g.3129100A>T							p.T504T	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	12	1657	+		all_epithelial(65;0.18)	504					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.1512A>T	CCDS43206.1																																																																																				0.562	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		15	21	0	0	0	1	0	15	21				
PCDHB2	56133	broad.mit.edu	37	5	140476315	140476315	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140476315G>C	ENST00000194155.4	+	1	2089	c.1941G>C	c.(1939-1941)aaG>aaC	p.K647N		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	647	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGTCAAGGACAATGGCG	0.716																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1939-1941)aaG>aaC									32.0	33.0	33.0					5																	140476315		2146	4208	6354	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476315G>C	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1941G>C	5.37:g.140476315G>C	ENSP00000194155:p.Lys647Asn						p.K647N	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2089	+			647			Cadherin 6.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1941G>C	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	9.737	1.163827	0.21538	.	.	ENSG00000112852	ENST00000194155	T	0.53640	0.61	4.16	2.26	0.28386	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58409	0.2120	M	0.72576	2.205	0.24754	N	0.992964	P	0.50443	0.935	P	0.58820	0.846	T	0.48927	-0.8991	9	0.87932	D	0	.	5.0157	0.14335	0.2612:0.1559:0.5829:0.0	.	647	Q9Y5E7	PCDB2_HUMAN	N	647	ENSP00000194155:K647N	ENSP00000194155:K647N	K	+	3	2	PCDHB2	140456499	0.000000	0.05858	0.584000	0.28653	0.361000	0.29550	-0.151000	0.10175	0.283000	0.22279	0.456000	0.33151	AAG		0.716	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		11	81	0	0	0	1	0	11	81				
CA2	760	broad.mit.edu	37	8	86392937	86392937	+	Silent	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:86392937T>C	ENST00000285379.5	+	7	932	c.702T>C	c.(700-702)ggT>ggC	p.G234G		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	234					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	ATGGGGAGGGTGAACCCGAAG	0.398																																						ENST00000285379.5																			0				central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11						c.(700-702)ggT>ggC		carbonic anhydrase II	Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						99.0	93.0	95.0					8																	86392937		2203	4300	6503	SO:0001819	synonymous_variant	760				one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding	g.chr8:86392937T>C	J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"""Carbonic anhydrases"""	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.702T>C	8.37:g.86392937T>C							p.G234G	NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN			7	932	+			234					B2R7G8|Q6FI12|Q96ET9	Silent	SNP	ENST00000285379.5	37	c.702T>C	CCDS6239.1																																																																																				0.398	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381097.2	NM_000067		48	40	0	0	0	1	0	48	40				
KCNA1	3736	broad.mit.edu	37	12	5020659	5020659	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:5020659G>C	ENST00000382545.3	+	2	1222	c.115G>C	c.(115-117)Gtg>Ctg	p.V39L	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	39					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CTGCGAGCGCGTGGTGATCAA	0.672																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(115-117)Gtg>Ctg		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						41.0	42.0	42.0					12																	5020659		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5020659G>C	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.115G>C	12.37:g.5020659G>C	ENSP00000371985:p.Val39Leu					KCNA1_ENST00000543874.2_Intron	p.V39L	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	1222	+			39					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.115G>C	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.133797	0.56828	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.79749	-1.3	3.93	3.93	0.45458	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.83170	0.5196	L	0.52573	1.65	0.80722	D	1	P	0.35821	0.523	P	0.49047	0.599	D	0.83784	0.0227	10	0.46703	T	0.11	.	15.4851	0.75560	0.0:0.0:1.0:0.0	.	39	Q09470	KCNA1_HUMAN	L	39	ENSP00000371985:V39L	ENSP00000228858:V39L	V	+	1	0	KCNA1	4890920	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.534000	0.73833	2.201000	0.70794	0.555000	0.69702	GTG		0.672	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		11	55	0	0	0	1	0	11	55				
PXDN	7837	broad.mit.edu	37	2	1652399	1652399	+	Silent	SNP	G	G	A	rs551163043		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:1652399G>A	ENST00000252804.4	-	17	3203	c.3153C>T	c.(3151-3153)caC>caT	p.H1051H		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1051					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGTCGTAGCCGTGGTACTCTC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17175	0.001		0.0	False		,,,				2504	0.0					ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(3151-3153)caC>caT		peroxidasin homolog (Drosophila)							52.0	60.0	57.0					2																	1652399		2191	4286	6477	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652399G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3153C>T	2.37:g.1652399G>A							p.H1051H	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3203	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1051					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.3153C>T	CCDS46221.1																																																																																				0.622	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		4	24	0	0	0	1	0	4	24				
SLC39A14	23516	broad.mit.edu	37	8	22267528	22267528	+	Intron	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:22267528C>G	ENST00000381237.1	+	3	576				SLC39A14_ENST00000359741.5_Missense_Mutation_p.P176R|SLC39A14_ENST00000240095.6_Intron|SLC39A14_ENST00000289952.5_Intron	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14						cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CTCGTCCTGCCCTGCACAGAG	0.547																																						ENST00000359741.5																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12						c.(526-528)cCc>cGc		solute carrier family 39 (zinc transporter), member 14							247.0	201.0	217.0					8																	22267528		2203	4300	6503	SO:0001627	intron_variant	23516					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22267528C>G	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"""Solute carriers"""	20858	protein-coding gene	gene with protein product		608736	"""solute carrier family 39 (metal ion transporter), member 14"""			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.457+1519C>G	8.37:g.22267528C>G						SLC39A14_ENST00000381237.1_Intron|SLC39A14_ENST00000289952.5_Intron|SLC39A14_ENST00000240095.6_Intron	p.P176R	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	4	702	+			176					A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Missense_Mutation	SNP	ENST00000381237.1	37	c.527C>G	CCDS47823.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850495	0.91277	.	.	ENSG00000104635	ENST00000359741	T	0.52295	0.67	5.38	5.38	0.77491	.	.	.	.	.	T	0.70081	0.3183	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.71368	-0.4614	8	0.54805	T	0.06	.	18.0736	0.89421	0.0:1.0:0.0:0.0	.	176	B6EU88	.	R	176	ENSP00000352779:P176R	ENSP00000352779:P176R	P	+	2	0	SLC39A14	22323473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.220000	0.78008	2.793000	0.96121	0.655000	0.94253	CCC		0.547	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		16	215	0	0	0	1	0	16	215				
MAGEC1	9947	broad.mit.edu	37	X	140994721	140994721	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:140994721C>A	ENST00000285879.4	+	4	1817	c.1531C>A	c.(1531-1533)Cag>Aag	p.Q511K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	511										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTTTTCCCCAGTCTCCTCT	0.507										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1531-1533)Cag>Aag		melanoma antigen family C, 1							113.0	123.0	120.0					X																	140994721		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140994721C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1531C>A	X.37:g.140994721C>A	ENSP00000285879:p.Gln511Lys	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.Q511K	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1817	+	Acute lymphoblastic leukemia(192;6.56e-05)		511					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1531C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	6.973	0.549577	0.13374	.	.	ENSG00000155495	ENST00000285879	T	0.02446	4.29	0.892	0.892	0.19230	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	0.09310	N	1	B	0.33494	0.414	B	0.21151	0.033	T	0.47824	-0.9087	9	0.72032	D	0.01	.	3.8393	0.08908	0.0:0.6679:0.0:0.3321	.	511	O60732	MAGC1_HUMAN	K	511	ENSP00000285879:Q511K	ENSP00000285879:Q511K	Q	+	1	0	MAGEC1	140822387	0.000000	0.05858	0.145000	0.22337	0.146000	0.21551	-0.181000	0.09740	0.147000	0.19030	0.149000	0.16113	CAG		0.507	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		81	170	1	0	5.88917e-42	1	7.40796e-42	81	170				
LCT	3938	broad.mit.edu	37	2	136566390	136566390	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:136566390C>G	ENST00000264162.2	-	8	3537	c.3527G>C	c.(3526-3528)aGt>aCt	p.S1176T	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1176	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTGCAGTTCACTCCTGTTCCC	0.552																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(3526-3528)aGt>aCt		lactase							132.0	111.0	118.0					2																	136566390		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566390C>G	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3527G>C	2.37:g.136566390C>G	ENSP00000264162:p.Ser1176Thr						p.S1176T	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3537	-			1176			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3527G>C	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012909	0.75161	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.53423	0.62	5.37	5.37	0.77165	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.074361	0.85682	D	0.000000	T	0.73729	0.3624	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78132	-0.2323	10	0.72032	D	0.01	-19.5369	19.12	0.93358	0.0:1.0:0.0:0.0	.	1176	P09848	LPH_HUMAN	T	1176;608	ENSP00000264162:S1176T	ENSP00000264162:S1176T	S	-	2	0	LCT	136282860	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.818000	0.86416	2.497000	0.84241	0.563000	0.77884	AGT		0.552	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		15	118	0	0	0	1	0	15	118				
ELP2	55250	broad.mit.edu	37	18	33721123	33721123	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:33721123G>A	ENST00000358232.6	+	6	610	c.547G>A	c.(547-549)Gat>Aat	p.D183N	ELP2_ENST00000542824.1_Missense_Mutation_p.D157N|ELP2_ENST00000423854.2_Intron|ELP2_ENST00000351393.6_Missense_Mutation_p.D157N|ELP2_ENST00000442325.2_Missense_Mutation_p.D248N|ELP2_ENST00000350494.6_Missense_Mutation_p.D222N	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	183					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						ATGTGGCAATGATGATTGCAG	0.343																																						ENST00000358232.6																			0				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						c.(547-549)Gat>Aat		elongator acetyltransferase complex subunit 2							136.0	129.0	131.0					18																	33721123		2203	4300	6503	SO:0001583	missense	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33721123G>A	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.547G>A	18.37:g.33721123G>A	ENSP00000350967:p.Asp183Asn					ELP2_ENST00000351393.6_Missense_Mutation_p.D157N|ELP2_ENST00000350494.6_Missense_Mutation_p.D222N|ELP2_ENST00000442325.2_Missense_Mutation_p.D248N|ELP2_ENST00000423854.2_Intron|ELP2_ENST00000542824.1_Missense_Mutation_p.D157N	p.D183N	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN			6	610	+			183					A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	c.547G>A	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422786	0.62733	.	.	ENSG00000134759	ENST00000543127;ENST00000358232;ENST00000351393;ENST00000442325;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.66460	-0.21;-0.21;0.26;1.02;-0.05;-0.21	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.096453	0.64402	D	0.000001	T	0.76357	0.3976	M	0.82056	2.57	0.58432	D	0.99999	P;P;D;P;D	0.58970	0.927;0.875;0.957;0.71;0.984	B;P;P;P;P	0.55615	0.424;0.511;0.697;0.557;0.78	T	0.73550	-0.3947	10	0.15066	T	0.55	-12.2678	14.8536	0.70316	0.0:0.0:1.0:0.0	.	222;248;157;157;183	B4DTG0;E7EP23;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;ELP2_HUMAN	N	34;183;157;248;222;157	ENSP00000440426:D34N;ENSP00000350967:D183N;ENSP00000257191:D157N;ENSP00000414851:D248N;ENSP00000316051:D222N;ENSP00000443800:D157N	ENSP00000316051:D222N	D	+	1	0	ELP2	31975121	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	6.400000	0.73252	2.569000	0.86673	0.644000	0.83932	GAT		0.343	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		17	33	0	0	0	1	0	17	33				
KCNH8	131096	broad.mit.edu	37	3	19479726	19479726	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:19479726G>A	ENST00000328405.2	+	8	1514	c.1248G>A	c.(1246-1248)tcG>tcA	p.S416S	KCNH8_ENST00000537696.1_Silent_p.S57S	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	416					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.S416S(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GGGGCCCGTCGATCCGAAGTG	0.493																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			1	Substitution - coding silent(1)	p.S416S(1)	skin(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(1246-1248)tcG>tcA		potassium voltage-gated channel, subfamily H (eag-related), member 8							153.0	153.0	153.0					3																	19479726		2203	4300	6503	SO:0001819	synonymous_variant	131096					integral to membrane	two-component sensor activity	g.chr3:19479726G>A	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1248G>A	3.37:g.19479726G>A						KCNH8_ENST00000537696.1_Silent_p.S57S	p.S416S	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			8	1514	+			416					B7Z2I7|Q59GQ6	Silent	SNP	ENST00000328405.2	37	c.1248G>A	CCDS2632.1																																																																																				0.493	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		26	164	0	0	0	1	0	26	164				
YTHDF1	54915	broad.mit.edu	37	20	61834856	61834856	+	Missense_Mutation	SNP	C	C	G	rs372457749		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:61834856C>G	ENST00000370339.3	-	4	777	c.436G>C	c.(436-438)Gcg>Ccg	p.A146P	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.A96P	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	146							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CTCCCATACGCGGAGCTCTGG	0.592																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(436-438)Gcg>Ccg		YTH domain family, member 1							45.0	41.0	43.0					20																	61834856		2203	4300	6503	SO:0001583	missense	54915							g.chr20:61834856C>G	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.436G>C	20.37:g.61834856C>G	ENSP00000359364:p.Ala146Pro					YTHDF1_ENST00000370333.4_Missense_Mutation_p.A96P|YTHDF1_ENST00000370334.4_Intron	p.A146P	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	777	-			146					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	c.436G>C	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610880	0.66558	.	.	ENSG00000149658	ENST00000370339;ENST00000370333	T;T	0.56611	0.45;0.45	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.62938	0.2469	L	0.38531	1.155	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.60321	-0.7286	9	.	.	.	-24.219	18.6283	0.91349	0.0:1.0:0.0:0.0	.	146	Q9BYJ9	YTHD1_HUMAN	P	146;96	ENSP00000359364:A146P;ENSP00000359358:A96P	.	A	-	1	0	YTHDF1	61305301	1.000000	0.71417	0.338000	0.25549	0.812000	0.45895	5.894000	0.69806	2.400000	0.81607	0.491000	0.48974	GCG		0.592	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		12	54	0	0	0	1	0	12	54				
FAM129A	116496	broad.mit.edu	37	1	184792874	184792874	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:184792874G>C	ENST00000367511.3	-	7	913	c.720C>G	c.(718-720)atC>atG	p.I240M	FAM129A_ENST00000487074.1_Intron|RNU7-13P_ENST00000516413.1_RNA	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	240					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GGTTACTCAGGATCTGCGCAG	0.542																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(718-720)atC>atG		family with sequence similarity 129, member A							83.0	77.0	79.0					1																	184792874		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184792874G>C	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.720C>G	1.37:g.184792874G>C	ENSP00000356481:p.Ile240Met					FAM129A_ENST00000487074.1_Intron	p.I240M	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			7	913	-			240					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.720C>G	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.570311	0.45798	.	.	ENSG00000135842	ENST00000367511	T	0.15834	2.39	5.76	1.6	0.23607	.	0.332405	0.31472	N	0.007597	T	0.25457	0.0619	M	0.72118	2.19	0.30304	N	0.789167	D	0.57571	0.98	P	0.51385	0.668	T	0.13150	-1.0520	10	0.45353	T	0.12	-6.2301	8.2966	0.31988	0.1327:0.3861:0.4812:0.0	.	240	Q9BZQ8	NIBAN_HUMAN	M	240	ENSP00000356481:I240M	ENSP00000356481:I240M	I	-	3	3	FAM129A	183059497	1.000000	0.71417	0.996000	0.52242	0.434000	0.31775	1.670000	0.37502	0.304000	0.22809	-0.211000	0.12701	ATC		0.542	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			9	39	0	0	0	1	0	9	39				
IQGAP1	8826	broad.mit.edu	37	15	91021017	91021017	+	Silent	SNP	C	C	A	rs138378081	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:91021017C>A	ENST00000268182.5	+	26	3349	c.3225C>A	c.(3223-3225)gtC>gtA	p.V1075V	IQGAP1_ENST00000560738.1_Silent_p.V503V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1075	C1.|Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGGCCCCAGTCGTGAAGGAAA	0.443																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3223-3225)gtC>gtA		IQ motif containing GTPase activating protein 1							120.0	119.0	119.0					15																	91021017		2198	4298	6496	SO:0001819	synonymous_variant	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91021017C>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3225C>A	15.37:g.91021017C>A						IQGAP1_ENST00000560738.1_Silent_p.V503V	p.V1075V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		26	3349	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1075			C1.|Ras-GAP.		A7MBM3	Silent	SNP	ENST00000268182.5	37	c.3225C>A	CCDS10362.1																																																																																				0.443	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		46	66	1	0	1.7489e-18	1	2.09693e-18	46	66				
MORN5	254956	broad.mit.edu	37	9	124931984	124931984	+	Missense_Mutation	SNP	G	G	T	rs113084619	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:124931984G>T	ENST00000373764.3	+	3	318	c.256G>T	c.(256-258)Ggc>Tgc	p.G86C	MORN5_ENST00000486801.1_Intron|MORN5_ENST00000536616.1_Missense_Mutation_p.G86C	NM_198469.2	NP_940871.2	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	86										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						TTACTGCGACGGCTATGATCG	0.507																																						ENST00000536616.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						c.(256-258)Ggc>Tgc		MORN repeat containing 5							188.0	152.0	164.0					9																	124931984		2203	4300	6503	SO:0001583	missense	254956							g.chr9:124931984G>T	AK128877	CCDS6836.1, CCDS75894.1	9q34.11	2008-06-23	2008-06-23	2008-06-23	ENSG00000185681	ENSG00000185681			17841	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 113"", ""chromosome 9 open reading frame 18"""	C9orf113, C9orf18			Standard	XM_005251878		Approved	FLJ46909	uc004blw.2	Q5VZ52	OTTHUMG00000020599	ENST00000373764.3:c.256G>T	9.37:g.124931984G>T	ENSP00000362869:p.Gly86Cys					MORN5_ENST00000486801.1_Intron|MORN5_ENST00000373764.3_Missense_Mutation_p.G86C	p.G86C			Q5VZ52	MORN5_HUMAN			3	294	+			86					B7Z7I5|Q6ZQN1	Missense_Mutation	SNP	ENST00000373764.3	37	c.256G>T	CCDS6836.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986015	0.53934	.	.	ENSG00000185681	ENST00000373764;ENST00000536616;ENST00000418632	T;T;T	0.42131	0.98;0.98;0.98	5.57	-6.99	0.01605	.	0.346769	0.38326	N	0.001723	T	0.52025	0.1709	M	0.81682	2.555	0.25189	N	0.990145	D;D	0.67145	0.996;0.995	P;P	0.60236	0.871;0.653	T	0.54636	-0.8264	10	0.66056	D	0.02	-22.3642	10.4911	0.44752	0.2678:0.2061:0.5261:0.0	.	86;86	B7Z7I5;Q5VZ52	.;MORN5_HUMAN	C	86;86;70	ENSP00000362869:G86C;ENSP00000437483:G86C;ENSP00000409949:G70C	ENSP00000362869:G86C	G	+	1	0	MORN5	123971805	0.973000	0.33851	0.183000	0.23137	0.583000	0.36354	0.100000	0.15231	-1.211000	0.02624	-0.350000	0.07774	GGC		0.507	MORN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053910.2	NM_198469		37	75	1	0	3.21399e-22	1	3.9392e-22	37	75				
SKOR2	652991	broad.mit.edu	37	18	44775084	44775084	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:44775084G>A	ENST00000425639.1	-	1	470	c.471C>T	c.(469-471)ggC>ggT	p.G157G	SKOR2_ENST00000400404.1_Silent_p.G157G	NM_001278063.1	NP_001264992.1	Q2VWA4	SKOR2_HUMAN	SKI family transcriptional corepressor 2	157					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of cerebellar granule cell precursor proliferation (GO:0021936)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.G157G(1)		endometrium(1)	1						GAATGAAGCTGCCGCGGCAGC	0.587																																						ENST00000425639.1																			1	Substitution - coding silent(1)	p.G157G(1)	endometrium(1)	endometrium(1)	1						c.(469-471)ggC>ggT		SKI family transcriptional corepressor 2																																				SO:0001819	synonymous_variant	652991				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr18:44775084G>A	AY669508	CCDS62441.1, CCDS74222.1	18q21.1	2011-08-04			ENSG00000215474	ENSG00000215474		"""SKI transcriptional corepressors"""	32695	protein-coding gene	gene with protein product	"""functional smad suppressing element 18"""					16200078, 18522874	Standard	NM_001278063		Approved	CORL2, FUSSEL18, Fussel-18	uc031rif.1	Q2VWA4		ENST00000425639.1:c.471C>T	18.37:g.44775084G>A						SKOR2_ENST00000400404.1_Silent_p.G157G	p.G157G	NM_001278063.1	NP_001264992.1	Q2VWA4	SKOR2_HUMAN			1	470	-			157						Silent	SNP	ENST00000425639.1	37	c.471C>T																																																																																					0.587	SKOR2-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000450685.2	NM_001037802		5	6	0	0	0	1	0	5	6				
CDRT1	374286	broad.mit.edu	37	17	15492481	15492481	+	Silent	SNP	G	G	T	rs547076711	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:15492481G>T	ENST00000395906.3	-	12	2066	c.2067C>A	c.(2065-2067)atC>atA	p.I689I	RP11-385D13.1_ENST00000455584.2_Intron|CDRT1_ENST00000354433.3_Silent_p.I189I|CDRT1_ENST00000583965.1_3'UTR	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	689										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		CACTTGGTTCGATTCCATTCC	0.507																																						ENST00000395906.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(2065-2067)atC>atA		CMT1A duplicated region transcript 1							109.0	116.0	113.0					17																	15492481		2199	4299	6498	SO:0001819	synonymous_variant	374286							g.chr17:15492481G>T	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.2067C>A	17.37:g.15492481G>T						CDRT1_ENST00000354433.3_Silent_p.I189I|CDRT1_ENST00000583965.1_3'UTR|RP11-385D13.1_ENST00000455584.2_Intron	p.I689I	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)	12	2066	-			689					O43848|O95611	Silent	SNP	ENST00000395906.3	37	c.2067C>A	CCDS45619.1																																																																																				0.507	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		4	194	1	0	0.150653	1	0.151286	4	194				
CXorf58	254158	broad.mit.edu	37	X	23945485	23945485	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:23945485C>G	ENST00000379211.3	+	6	1102	c.553C>G	c.(553-555)Caa>Gaa	p.Q185E		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	185										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AGATTATGTACAAGTAAGGAA	0.323																																						ENST00000379211.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						c.(553-555)Caa>Gaa		chromosome X open reading frame 58							68.0	65.0	66.0					X																	23945485		2203	4299	6502	SO:0001583	missense	254158							g.chrX:23945485C>G	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.553C>G	X.37:g.23945485C>G	ENSP00000368511:p.Gln185Glu						p.Q185E	NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN			6	1102	+			185						Missense_Mutation	SNP	ENST00000379211.3	37	c.553C>G	CCDS14209.1	.	.	.	.	.	.	.	.	.	.	c	11.36	1.614441	0.28712	.	.	ENSG00000165182	ENST00000379211	T	0.29397	1.57	5.59	4.72	0.59763	.	0.414872	0.22600	N	0.057966	T	0.47322	0.1439	M	0.71581	2.175	0.09310	N	0.999997	D;D	0.59767	0.986;0.986	P;P	0.58520	0.84;0.84	T	0.42378	-0.9455	10	0.72032	D	0.01	-22.2455	9.5635	0.39385	0.1602:0.6883:0.1515:0.0	.	185;185	B7ZLS7;Q96LI9	.;CX058_HUMAN	E	185	ENSP00000368511:Q185E	ENSP00000368511:Q185E	Q	+	1	0	CXorf58	23855406	0.999000	0.42202	0.317000	0.25265	0.010000	0.07245	1.390000	0.34464	1.101000	0.41535	-0.344000	0.07964	CAA		0.323	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761		27	54	0	0	0	1	0	27	54				
VSIG10	54621	broad.mit.edu	37	12	118517333	118517333	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:118517333T>A	ENST00000359236.5	-	4	1019	c.743A>T	c.(742-744)gAt>gTt	p.D248V	VSIG10_ENST00000536905.1_5'Flank	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	248	Ig-like C2-type 3.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GTATCCCCCATCCCAGCGACA	0.567																																						ENST00000359236.5																			0				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(742-744)gAt>gTt		V-set and immunoglobulin domain containing 10							119.0	121.0	120.0					12																	118517333		2035	4194	6229	SO:0001583	missense	54621					integral to membrane		g.chr12:118517333T>A		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.743A>T	12.37:g.118517333T>A	ENSP00000352172:p.Asp248Val						p.D248V	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN			4	1019	-			248			Ig-like C2-type 3.		Q9NWQ7	Missense_Mutation	SNP	ENST00000359236.5	37	c.743A>T	CCDS44992.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744301	0.49151	.	.	ENSG00000176834	ENST00000359236;ENST00000538357	T;T	0.15256	2.44;2.44	6.14	2.61	0.31194	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.448063	0.18910	N	0.127767	T	0.16471	0.0396	L	0.57536	1.79	0.27008	N	0.964755	P	0.36027	0.533	B	0.34991	0.193	T	0.07849	-1.0751	10	0.39692	T	0.17	-5.4174	9.003	0.36094	0.0985:0.0:0.5563:0.3452	.	248	Q8N0Z9	VSI10_HUMAN	V	248;147	ENSP00000352172:D248V;ENSP00000442861:D147V	ENSP00000352172:D248V	D	-	2	0	VSIG10	117001716	0.997000	0.39634	0.432000	0.26747	0.986000	0.74619	3.363000	0.52321	0.566000	0.29273	0.529000	0.55759	GAT		0.567	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086		45	66	0	0	0	1	0	45	66				
DNAH1	25981	broad.mit.edu	37	3	52394096	52394096	+	Splice_Site	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:52394096G>C	ENST00000420323.2	+	27	4832		c.e27+1			NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1						cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACAGCTGAGGTGAGGACATG	0.562																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.e27+1		dynein, axonemal, heavy chain 1							86.0	88.0	87.0					3																	52394096		2098	4214	6312	SO:0001630	splice_region_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52394096G>C	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4571+1G>C	3.37:g.52394096G>C								NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	27	4832	+								B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Splice_Site	SNP	ENST00000420323.2	37		CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.558619	0.45590	.	.	ENSG00000114841	ENST00000420323	.	.	.	5.12	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.692	0.56980	0.0:0.0:0.6997:0.3003	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH1	52369136	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	7.536000	0.82023	0.726000	0.32339	0.561000	0.74099	.		0.562	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	Intron	6	92	0	0	0	1	0	6	92				
CHD6	84181	broad.mit.edu	37	20	40116420	40116420	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:40116420G>C	ENST00000373233.3	-	14	2063	c.1886C>G	c.(1885-1887)cCc>cGc	p.P629R	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	629	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTTCTGCAAGGGTGTTCCAGT	0.428																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(1885-1887)cCc>cGc		chromodomain helicase DNA binding protein 6							92.0	96.0	95.0					20																	40116420		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40116420G>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1886C>G	20.37:g.40116420G>C	ENSP00000362330:p.Pro629Arg					CHD6_ENST00000309279.7_Intron	p.P629R	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			14	2063	-		Myeloproliferative disorder(115;0.00425)	629			Helicase ATP-binding.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.1886C>G	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896587	0.91962	.	.	ENSG00000124177	ENST00000373233	D	0.99766	-6.69	5.48	5.48	0.80851	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.53938	D	0.000046	D	0.99915	0.9960	H	0.99916	4.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95884	0.8901	10	0.87932	D	0	-14.7344	19.7157	0.96119	0.0:0.0:1.0:0.0	.	629	Q8TD26	CHD6_HUMAN	R	629	ENSP00000362330:P629R	ENSP00000362330:P629R	P	-	2	0	CHD6	39549834	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.779000	0.99018	2.749000	0.94314	0.655000	0.94253	CCC		0.428	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			7	61	0	0	0	1	0	7	61				
TTN	7273	broad.mit.edu	37	2	179435320	179435320	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179435320C>G	ENST00000591111.1	-	276	70840	c.70616G>C	c.(70615-70617)gGa>gCa	p.G23539A	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G22612A|TTN_ENST00000342175.6_Missense_Mutation_p.G16307A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G25180A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16240A|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16115A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23539	Ig-like 119.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATGTAATTTCCACTGTCGAC	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(75538-75540)gGa>gCa		titin							101.0	93.0	95.0					2																	179435320		1937	4140	6077	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179435320C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70616G>C	2.37:g.179435320C>G	ENSP00000465570:p.Gly23539Ala					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G22612A|TTN_ENST00000460472.2_Missense_Mutation_p.G16115A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16307A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16240A|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G23539A|TTN-AS1_ENST00000590807.1_RNA	p.G25180A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	75763	-			23539			Fibronectin type-III 83.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.75539G>C		.	.	.	.	.	.	.	.	.	.	C	14.52	2.560387	0.45590	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.57	5.57	0.84162	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89770	0.6811	M	0.91300	3.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.91285	0.5054	9	0.87932	D	0	.	19.9278	0.97110	0.0:1.0:0.0:0.0	.	16115;16240;16307;23539	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	22612;16115;16307;16240;16113	ENSP00000343764:G22612A;ENSP00000434586:G16115A;ENSP00000340554:G16307A;ENSP00000352154:G16240A	ENSP00000340554:G16307A	G	-	2	0	TTN	179143566	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.729000	0.84864	2.770000	0.95276	0.650000	0.86243	GGA		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	42	0	0	0	1	0	4	42				
CXorf66	347487	broad.mit.edu	37	X	139040246	139040246	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:139040246G>A	ENST00000370540.1	-	2	242	c.219C>T	c.(217-219)agC>agT	p.S73S		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	73						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						ACGCATCATCGCTCAGACAAT	0.348													G|||	1	0.000264901	0.0	0.0014	3775	,	,		13593	0.0		0.0	False		,,,				2504	0.0					ENST00000370540.1																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						c.(217-219)agC>agT		chromosome X open reading frame 66							248.0	249.0	249.0					X																	139040246		2203	4300	6503	SO:0001819	synonymous_variant	347487					integral to membrane		g.chrX:139040246G>A		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.219C>T	X.37:g.139040246G>A							p.S73S	NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN			2	242	-			73						Silent	SNP	ENST00000370540.1	37	c.219C>T	CCDS35411.1																																																																																				0.348	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		147	214	0	0	0	1	0	147	214				
RBM15B	29890	broad.mit.edu	37	3	51430355	51430355	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:51430355C>G	ENST00000323686.4	+	1	1625	c.1525C>G	c.(1525-1527)Cat>Gat	p.H509D		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	509					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACTCCCTGTGCATTATGAGCT	0.617																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(1525-1527)Cat>Gat		RNA binding motif protein 15B							50.0	55.0	53.0					3																	51430355		2203	4300	6503	SO:0001583	missense	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51430355C>G	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1525C>G	3.37:g.51430355C>G	ENSP00000313890:p.His509Asp						p.H509D	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	1625	+			509					A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	37	c.1525C>G	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126068	0.56721	.	.	ENSG00000179837	ENST00000323686;ENST00000541145	T	0.15952	2.38	5.55	5.55	0.83447	.	.	.	.	.	T	0.30727	0.0774	L	0.50333	1.59	0.58432	D	0.999999	D	0.59357	0.985	P	0.53360	0.724	T	0.00501	-1.1702	9	0.45353	T	0.12	-7.8862	19.497	0.95077	0.0:1.0:0.0:0.0	.	509	Q8NDT2	RB15B_HUMAN	D	509;182	ENSP00000313890:H509D	ENSP00000313890:H509D	H	+	1	0	RBM15B	51405395	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	5.746000	0.68681	2.605000	0.88082	0.655000	0.94253	CAT		0.617	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		11	80	0	0	0	1	0	11	80				
MAP9	79884	broad.mit.edu	37	4	156268970	156268970	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:156268970G>C	ENST00000311277.4	-	14	2172	c.1909C>G	c.(1909-1911)Cct>Gct	p.P637A	AC097467.2_ENST00000597955.1_RNA|AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000512269.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000595760.1_RNA|AC097467.2_ENST00000601977.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.P613A|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000599555.2_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000593486.1_RNA|AC097467.2_ENST00000609254.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	637					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CTGCTTGGAGGGCTCCACGGA	0.348																																						ENST00000311277.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1909-1911)Cct>Gct		microtubule-associated protein 9							99.0	96.0	97.0					4																	156268970		2203	4300	6503	SO:0001583	missense	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156268970G>C	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1909C>G	4.37:g.156268970G>C	ENSP00000310593:p.Pro637Ala					MAP9_ENST00000515654.1_Missense_Mutation_p.P613A|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000593387.1_RNA|AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000601977.1_RNA	p.P637A	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	14	2172	-	all_hematologic(180;0.24)	Renal(120;0.0458)	637					Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	c.1909C>G	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511682	0.85389	.	.	ENSG00000164114	ENST00000311277;ENST00000515654	T;T	0.36340	1.26;1.32	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.60885	-0.7174	10	0.87932	D	0	-14.559	16.6611	0.85241	0.0:0.0:1.0:0.0	.	612;637	B4DVG9;Q49MG5	.;MAP9_HUMAN	A	637;613	ENSP00000310593:P637A;ENSP00000427402:P613A	ENSP00000310593:P637A	P	-	1	0	MAP9	156488420	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.013000	0.57138	2.797000	0.96272	0.561000	0.74099	CCT		0.348	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		4	23	0	0	0	1	0	4	23				
ACTR6	64431	broad.mit.edu	37	12	100617626	100617626	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:100617626T>C	ENST00000188312.2	+	11	1889	c.1124T>C	c.(1123-1125)aTg>aCg	p.M375T	ACTR6_ENST00000552376.1_Missense_Mutation_p.M355T|ACTR6_ENST00000546902.1_Missense_Mutation_p.M293T|ACTR6_ENST00000551617.1_Missense_Mutation_p.M273T	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	375						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TTTGAAGATATGGTGGTAACA	0.333																																						ENST00000188312.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						c.(1123-1125)aTg>aCg		ARP6 actin-related protein 6 homolog (yeast)							126.0	128.0	127.0					12																	100617626		2203	4300	6503	SO:0001583	missense	64431					cytoplasm|cytoskeleton		g.chr12:100617626T>C	AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.1124T>C	12.37:g.100617626T>C	ENSP00000188312:p.Met375Thr					ACTR6_ENST00000546902.1_Missense_Mutation_p.M293T|ACTR6_ENST00000551617.1_Missense_Mutation_p.M273T|ACTR6_ENST00000552376.1_Missense_Mutation_p.M355T	p.M375T	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN			11	1889	+			375					B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	ENST00000188312.2	37	c.1124T>C	CCDS9074.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.101187	0.37048	.	.	ENSG00000075089	ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;T;T	0.95035	-3.59;-3.59;3.07;3.07	5.95	5.95	0.96441	.	0.131462	0.64402	D	0.000001	D	0.94006	0.8080	M	0.80332	2.49	0.80722	D	1	B;B;B	0.31054	0.306;0.075;0.092	B;B;B	0.24006	0.05;0.023;0.039	D	0.93144	0.6544	10	0.87932	D	0	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	273;355;375	F8VSD1;F8W057;Q9GZN1	.;.;ARP6_HUMAN	T	375;293;355;273	ENSP00000188312:M375T;ENSP00000448669:M293T;ENSP00000447237:M355T;ENSP00000448356:M273T	ENSP00000188312:M375T	M	+	2	0	ACTR6	99141757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.528000	0.81941	2.279000	0.76181	0.533000	0.62120	ATG		0.333	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1	NM_022496		35	36	0	0	0	1	0	35	36				
RUNX1T1	862	broad.mit.edu	37	8	93004037	93004037	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:93004037T>A	ENST00000523629.1	-	7	1275	c.821A>T	c.(820-822)cAg>cTg	p.Q274L	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.Q247L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.Q285L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.Q237L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.Q274L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.Q247L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.Q237L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.Q237L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	274					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ACTGTACCGCTGGCCTGGGCT	0.502																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(820-822)cAg>cTg		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							190.0	156.0	168.0					8																	93004037		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93004037T>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.821A>T	8.37:g.93004037T>A	ENSP00000428543:p.Gln274Leu					RUNX1T1_ENST00000422361.2_Missense_Mutation_p.Q237L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.Q237L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.Q274L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.Q285L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.Q237L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.Q247L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.Q247L	p.Q274L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		7	1275	-			274					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.821A>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.633978	0.67130	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.33654	1.41;1.42;1.41;1.42;1.42;1.42;1.4;1.42	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.45175	0.1329	M	0.73962	2.25	0.80722	D	1	B;B;B	0.25563	0.129;0.073;0.071	B;B;B	0.31946	0.071;0.071;0.138	T	0.32587	-0.9901	10	0.36615	T	0.2	-19.0741	16.4837	0.84171	0.0:0.0:0.0:1.0	.	285;274;247	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	L	274;247;274;237;237;237;285;247	ENSP00000428543:Q274L;ENSP00000379520:Q247L;ENSP00000265814:Q274L;ENSP00000353504:Q237L;ENSP00000390137:Q237L;ENSP00000428742:Q237L;ENSP00000402257:Q285L;ENSP00000430728:Q247L	ENSP00000265814:Q274L	Q	-	2	0	RUNX1T1	93073213	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.978000	0.70501	2.371000	0.80710	0.533000	0.62120	CAG		0.502	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		26	63	0	0	0	1	0	26	63				
RNASE3	6037	broad.mit.edu	37	14	21360228	21360228	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:21360228G>C	ENST00000304639.3	+	2	441	c.383G>C	c.(382-384)aGa>aCa	p.R128T		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	128					antibacterial humoral response (GO:0019731)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	TATGCAGACAGACCAGGAAGG	0.473																																						ENST00000304639.3																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9						c.(382-384)aGa>aCa		ribonuclease, RNase A family, 3	Pranlukast(DB01411)						91.0	91.0	91.0					14																	21360228		2188	4300	6488	SO:0001583	missense	6037				defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21360228G>C	X55990	CCDS9560.1	14q11.2	2014-03-13	2010-05-07		ENSG00000169397	ENSG00000169397	3.1.27.-	"""Ribonucleases, RNase A"""	10046	protein-coding gene	gene with protein product	"""eosinophil cationic protein"""	131398		RNS3		1577491	Standard	NM_002935		Approved	ECP	uc001vyj.3	P12724	OTTHUMG00000029604	ENST00000304639.3:c.383G>C	14.37:g.21360228G>C	ENSP00000302324:p.Arg128Thr						p.R128T	NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	441	+	all_cancers(95;0.00453)		128					Q4VBC1|Q8WTP7|Q8WZ62|Q9GZN9	Missense_Mutation	SNP	ENST00000304639.3	37	c.383G>C	CCDS9560.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.241672	0.00022	.	.	ENSG00000169397	ENST00000304639	T	0.70631	-0.5	2.38	-4.77	0.03219	Ribonuclease A, domain (4);	1.228950	0.06263	N	0.694379	T	0.30792	0.0776	N	0.01128	-1	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.04090	-1.0978	10	0.02654	T	1	.	3.3133	0.07024	0.1138:0.1587:0.4519:0.2756	.	128	P12724	ECP_HUMAN	T	128	ENSP00000302324:R128T	ENSP00000302324:R128T	R	+	2	0	RNASE3	20430068	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.289000	0.00072	-5.177000	0.00020	-4.529000	0.00005	AGA		0.473	RNASE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073795.2	NM_002935		23	90	0	0	0	1	0	23	90				
PLEKHH1	57475	broad.mit.edu	37	14	68029195	68029195	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:68029195G>C	ENST00000329153.5	+	7	979	c.847G>C	c.(847-849)Ggt>Cgt	p.G283R		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	283						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGCTTCCTGGGGTGAGGGTCT	0.572																																						ENST00000329153.5																			0				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19						c.(847-849)Ggt>Cgt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 1							59.0	69.0	66.0					14																	68029195		1950	4154	6104	SO:0001583	missense	57475					cytoskeleton	binding	g.chr14:68029195G>C	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.847G>C	14.37:g.68029195G>C	ENSP00000330278:p.Gly283Arg						p.G283R	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	7	979	+			283					A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	c.847G>C	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	G	7.441	0.640775	0.14386	.	.	ENSG00000054690	ENST00000329153	T	0.70986	-0.53	5.08	3.93	0.45458	.	0.585786	0.18981	N	0.125867	T	0.52901	0.1763	L	0.31294	0.92	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.38436	-0.9661	10	0.15952	T	0.53	.	7.0857	0.25255	0.1632:0.0:0.8368:0.0	.	283	Q9ULM0	PKHH1_HUMAN	R	283	ENSP00000330278:G283R	ENSP00000330278:G283R	G	+	1	0	PLEKHH1	67098948	1.000000	0.71417	0.998000	0.56505	0.237000	0.25408	2.383000	0.44354	1.014000	0.39417	0.491000	0.48974	GGT		0.572	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		6	31	0	0	0	1	0	6	31				
RRAGC	64121	broad.mit.edu	37	1	39322728	39322728	+	Missense_Mutation	SNP	G	G	C	rs368960688		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:39322728G>C	ENST00000373001.3	-	2	440	c.264C>G	c.(262-264)aaC>aaG	p.N88K	RP5-864K19.4_ENST00000433671.2_RNA	NM_022157.2	NP_071440.1			Ras-related GTP binding C											endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				AGAGGGTCTCGTTGGGTGACA	0.348																																						ENST00000373001.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10						c.(262-264)aaC>aaG		Ras-related GTP binding C							76.0	82.0	80.0					1																	39322728		2203	4300	6503	SO:0001583	missense	64121				apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity	g.chr1:39322728G>C	AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.264C>G	1.37:g.39322728G>C	ENSP00000362092:p.Asn88Lys						p.N88K	NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN			2	440	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	88						Missense_Mutation	SNP	ENST00000373001.3	37	c.264C>G	CCDS430.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.664000	0.67700	.	.	ENSG00000116954	ENST00000373001	.	.	.	5.59	-7.13	0.01532	.	0.000000	0.85682	D	0.000000	T	0.62073	0.2398	M	0.66560	2.04	0.80722	D	1	B;B	0.31893	0.345;0.07	P;B	0.45071	0.468;0.287	T	0.60677	-0.7216	9	0.25751	T	0.34	-14.3772	14.9848	0.71339	0.5523:0.0:0.4477:0.0	.	22;88	D3DPT8;Q9HB90	.;RRAGC_HUMAN	K	88	.	ENSP00000362092:N88K	N	-	3	2	RRAGC	39095315	0.006000	0.16342	0.919000	0.36401	0.947000	0.59692	-0.931000	0.03967	-0.980000	0.03524	-1.629000	0.00783	AAC		0.348	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2	NM_022157		12	78	0	0	0	1	0	12	78				
PXDNL	137902	broad.mit.edu	37	8	52321305	52321305	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:52321305C>G	ENST00000356297.4	-	17	2979	c.2879G>C	c.(2878-2880)cGg>cCg	p.R960P	PXDNL_ENST00000543296.1_Missense_Mutation_p.R960P	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	960		Transition state stabilizer. {ECO:0000255|PROSITE-ProRule:PRU00298}.			hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTCGTTGGCCCGGTGGTCCCC	0.662																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(2878-2880)cGg>cCg		peroxidasin homolog (Drosophila)-like							12.0	14.0	13.0					8																	52321305		1975	4139	6114	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321305C>G		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2879G>C	8.37:g.52321305C>G	ENSP00000348645:p.Arg960Pro					PXDNL_ENST00000543296.1_Missense_Mutation_p.R960P	p.R960P	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	2979	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	960				Transition state stabilizer (By similarity).	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2879G>C	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.58|12.58	1.981263|1.981263	0.34942|0.34942	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297;ENST00000543296	.|D;D	.|0.83075	.|-1.68;-1.68	4.16|4.16	2.21|2.21	0.28008|0.28008	.|.	.|0.124907	.|0.32868	.|N	.|0.005544	D|D	0.94145|0.94145	0.8122|0.8122	H|H	0.99357|0.99357	4.53|4.53	0.51012|0.51012	D|D	0.999907|0.999907	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.92996|0.92996	0.6419|0.6419	5|10	.|0.87932	.|D	.|0	.|.	10.1797|10.1797	0.42961|0.42961	0.3601:0.6399:0.0:0.0|0.3601:0.6399:0.0:0.0	.|.	.|960	.|A1KZ92	.|PXDNL_HUMAN	R|P	79|960	.|ENSP00000348645:R960P;ENSP00000444865:R960P	.|ENSP00000348645:R960P	G|R	-|-	1|2	0|0	PXDNL|PXDNL	52483858|52483858	0.994000|0.994000	0.37717|0.37717	0.001000|0.001000	0.08648|0.08648	0.057000|0.057000	0.15508|0.15508	4.006000|4.006000	0.57083|0.57083	0.163000|0.163000	0.19507|0.19507	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.662	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		4	10	0	0	0	1	0	4	10				
SPNS3	201305	broad.mit.edu	37	17	4342975	4342975	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:4342975G>C	ENST00000355530.2	+	2	502	c.222G>C	c.(220-222)gaG>gaC	p.E74D	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_5'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	74					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						ATATACAGGAGGTTTTCCAGA	0.587																																						ENST00000355530.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						c.(220-222)gaG>gaC		spinster homolog 3 (Drosophila)							68.0	56.0	60.0					17																	4342975		2203	4300	6503	SO:0001583	missense	201305				lipid transport|transmembrane transport	integral to membrane		g.chr17:4342975G>C		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.222G>C	17.37:g.4342975G>C	ENSP00000347721:p.Glu74Asp					SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_5'UTR	p.E74D	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN			2	502	+			74					Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	c.222G>C	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	G	2.302	-0.359898	0.05138	.	.	ENSG00000182557	ENST00000355530	T	0.59364	0.27	4.18	0.873	0.19118	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.665929	0.15259	N	0.271898	T	0.30727	0.0774	N	0.04705	-0.18	0.20926	N	0.999827	B	0.06786	0.001	B	0.11329	0.006	T	0.16070	-1.0415	10	0.32370	T	0.25	-4.181	6.5628	0.22495	0.1018:0.3502:0.548:0.0	.	74	Q6ZMD2	SPNS3_HUMAN	D	74	ENSP00000347721:E74D	ENSP00000347721:E74D	E	+	3	2	SPNS3	4289724	0.104000	0.21937	0.053000	0.19242	0.017000	0.09413	0.015000	0.13355	0.112000	0.17975	0.555000	0.69702	GAG		0.587	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		4	9	0	0	0	1	0	4	9				
EEF2K	29904	broad.mit.edu	37	16	22268648	22268648	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:22268648C>G	ENST00000263026.5	+	8	1317	c.843C>G	c.(841-843)ctC>ctG	p.L281L		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	281	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TTGGGGATCTCTACACTGACC	0.562																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(841-843)ctC>ctG		eukaryotic elongation factor-2 kinase							151.0	124.0	133.0					16																	22268648		2197	4300	6497	SO:0001819	synonymous_variant	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22268648C>G	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.843C>G	16.37:g.22268648C>G							p.L281L	NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	8	1317	+			281			Alpha-type protein kinase.		Q8N588	Silent	SNP	ENST00000263026.5	37	c.843C>G	CCDS10604.1																																																																																				0.562	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		9	125	0	0	0	1	0	9	125				
LINC01317	104355287	broad.mit.edu	37	2	33952898	33952898	+	lincRNA	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:33952898G>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CCCCTTCCAGGCGCCCACGCT	0.652																																						ENST00000366209.2																			0																																																			104355287							g.chr2:33952898G>T																													2.37:g.33952898G>T						MYADML_ENST00000474610.1_RNA								0	68	+									RNA	SNP	ENST00000366209.2	37																																																																																						0.652	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1			4	4	1	0	0.150653	1	0.151286	4	4				
JPH4	84502	broad.mit.edu	37	14	24040346	24040346	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:24040346G>A	ENST00000397118.3	-	6	2496	c.1594C>T	c.(1594-1596)Ctc>Ttc	p.L532F	JPH4_ENST00000544177.1_Missense_Mutation_p.L197F|JPH4_ENST00000356300.4_Missense_Mutation_p.L532F	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	532					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CAGCCTCCGAGGAGTGGGGAA	0.672																																						ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1594-1596)Ctc>Ttc		junctophilin 4							138.0	145.0	143.0					14																	24040346		2203	4300	6503	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040346G>A	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1594C>T	14.37:g.24040346G>A	ENSP00000380307:p.Leu532Phe					JPH4_ENST00000544177.1_Missense_Mutation_p.L197F|JPH4_ENST00000356300.4_Missense_Mutation_p.L532F	p.L532F	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2496	-	all_cancers(95;0.000251)		532					D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.1594C>T	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639417	0.67244	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.58358	0.34;0.34;0.56	5.08	4.17	0.49024	.	0.000000	0.27787	U	0.017842	T	0.51143	0.1657	N	0.24115	0.695	0.31707	N	0.639961	D;D	0.76494	0.999;0.995	D;P	0.69479	0.964;0.793	T	0.43327	-0.9398	10	0.10111	T	0.7	.	10.8803	0.46935	0.0929:0.0:0.9071:0.0	.	197;532	F5H1L9;Q96JJ6	.;JPH4_HUMAN	F	532;532;532;533;197	ENSP00000348648:L532F;ENSP00000380307:L532F;ENSP00000439562:L197F	ENSP00000267407:L533F	L	-	1	0	JPH4	23110186	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	2.934000	0.48956	2.518000	0.84900	0.655000	0.94253	CTC		0.672	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		137	185	0	0	0	1	0	137	185				
KRTAP26-1	388818	broad.mit.edu	37	21	31692245	31692245	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:31692245C>A	ENST00000360542.3	-	1	362	c.109G>T	c.(109-111)Gga>Tga	p.G37*		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	37						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						AGGACATCTCCACAGCTCACG	0.567																																						ENST00000360542.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(109-111)Gga>Tga		keratin associated protein 26-1							103.0	101.0	102.0					21																	31692245		2203	4300	6503	SO:0001587	stop_gained	388818					intermediate filament		g.chr21:31692245C>A	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.109G>T	21.37:g.31692245C>A	ENSP00000353742:p.Gly37*						p.G37*	NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN			1	362	-			37					B0RZD3	Nonsense_Mutation	SNP	ENST00000360542.3	37	c.109G>T	CCDS13588.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953195	0.92660	.	.	ENSG00000197683	ENST00000360542	.	.	.	5.1	4.21	0.49690	.	0.325264	0.24003	N	0.042447	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-4.786	9.9341	0.41541	0.0:0.9035:0.0:0.0965	.	.	.	.	X	37	.	ENSP00000353742:G37X	G	-	1	0	KRTAP26-1	30614116	0.234000	0.23783	0.113000	0.21522	0.401000	0.30781	1.993000	0.40747	1.450000	0.47717	0.655000	0.94253	GGA		0.567	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		49	78	1	0	5.2432e-18	1	6.27609e-18	49	78				
CCNY	219771	broad.mit.edu	37	10	35855003	35855003	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:35855003C>G	ENST00000374704.4	+	9	979	c.799C>G	c.(799-801)Cct>Gct	p.P267A	CCNY_ENST00000374706.1_Missense_Mutation_p.P213A|CCNY_ENST00000265375.9_Missense_Mutation_p.P213A|CCNY_ENST00000339497.5_Missense_Mutation_p.P242A	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	267					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						CATCAATGTTCCTTCCAGTGT	0.483																																						ENST00000374704.4																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						c.(799-801)Cct>Gct		cyclin Y							137.0	122.0	127.0					10																	35855003		2203	4300	6503	SO:0001583	missense	219771				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding	g.chr10:35855003C>G	AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"""chromosome 10 open reading frame 9"""	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.799C>G	10.37:g.35855003C>G	ENSP00000363836:p.Pro267Ala					CCNY_ENST00000265375.9_Missense_Mutation_p.P213A|CCNY_ENST00000339497.5_Missense_Mutation_p.P242A|CCNY_ENST00000374706.1_Missense_Mutation_p.P213A	p.P267A	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN			9	979	+			267					B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Missense_Mutation	SNP	ENST00000374704.4	37	c.799C>G	CCDS7189.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228625	0.95173	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	T;T;T;T	0.32753	1.46;1.44;1.48;1.46	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.61776	0.2374	M	0.85859	2.78	0.80722	D	1	P;D;D	0.71674	0.517;0.998;0.996	B;D;P	0.67725	0.191;0.953;0.899	T	0.66324	-0.5952	10	0.72032	D	0.01	-11.311	19.8457	0.96706	0.0:1.0:0.0:0.0	.	134;242;267	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	A	213;267;267;242;213;134	ENSP00000363838:P213A;ENSP00000363836:P267A;ENSP00000344275:P242A;ENSP00000265375:P213A	ENSP00000265375:P213A	P	+	1	0	CCNY	35895009	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.054000	0.71096	2.707000	0.92482	0.655000	0.94253	CCT		0.483	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	NM_181698		4	137	0	0	0	1	0	4	137				
RHOBTB3	22836	broad.mit.edu	37	5	95072637	95072637	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:95072637G>C	ENST00000379982.3	+	3	781	c.273G>C	c.(271-273)ggG>ggC	p.G91G		NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	91	Rho-like.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		ATCTAATTGGGGGCGCTGACA	0.333																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(271-273)ggG>ggC		Rho-related BTB domain containing 3							105.0	104.0	104.0					5																	95072637		2203	4300	6503	SO:0001819	synonymous_variant	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95072637G>C	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.273G>C	5.37:g.95072637G>C							p.G91G	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	3	781	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	91			Rho-like.		A0PJA4|A8K1W9|Q8IW06	Silent	SNP	ENST00000379982.3	37	c.273G>C	CCDS4077.1																																																																																				0.333	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		10	59	0	0	0	1	0	10	59				
RC3H2	54542	broad.mit.edu	37	9	125622334	125622334	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:125622334C>G	ENST00000373670.1	-	10	2311	c.1711G>C	c.(1711-1713)Gag>Cag	p.E571Q	RC3H2_ENST00000357244.2_Missense_Mutation_p.E571Q|RC3H2_ENST00000423239.2_Missense_Mutation_p.E571Q			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	571					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GAATTCAGCTCTGTTCCAACA	0.423																																						ENST00000373670.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1711-1713)Gag>Cag		ring finger and CCCH-type domains 2							200.0	200.0	200.0					9																	125622334		1860	4099	5959	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125622334C>G	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1711G>C	9.37:g.125622334C>G	ENSP00000362774:p.Glu571Gln					RC3H2_ENST00000423239.2_Missense_Mutation_p.E571Q|RC3H2_ENST00000357244.2_Missense_Mutation_p.E571Q	p.E571Q			Q9HBD1	RC3H2_HUMAN			10	2311	-			571					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.1711G>C	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608638	0.66558	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.44482	0.92;0.92;0.93	5.87	5.87	0.94306	.	0.278845	0.41294	D	0.000903	T	0.43233	0.1238	N	0.08118	0	0.80722	D	1	D;D	0.61080	0.981;0.989	D;D	0.70487	0.932;0.969	T	0.31806	-0.9930	10	0.15952	T	0.53	-21.5132	17.7375	0.88397	0.0:1.0:0.0:0.0	.	571;571	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	Q	571;571;442;571	ENSP00000362774:E571Q;ENSP00000349783:E571Q;ENSP00000411767:E571Q	ENSP00000349783:E571Q	E	-	1	0	RC3H2	124662155	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.078000	0.64425	2.941000	0.99782	0.655000	0.94253	GAG		0.423	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		14	271	0	0	0	1	0	14	271				
LVRN	206338	broad.mit.edu	37	5	115350190	115350190	+	Missense_Mutation	SNP	C	C	T	rs144970249	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:115350190C>T	ENST00000357872.4	+	16	2540	c.2416C>T	c.(2416-2418)Ctt>Ttt	p.L806F	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		806						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										GTCAAAAGAACTTTTCGCAAA	0.363																																						ENST00000357872.4																			0											c.(2416-2418)Ctt>Ttt									112.0	107.0	109.0					5																	115350190		2202	4300	6502	SO:0001583	missense	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115350190C>T																												ENST00000357872.4:c.2416C>T	5.37:g.115350190C>T	ENSP00000350541:p.Leu806Phe					AQPEP_ENST00000515454.1_3'UTR	p.L806F	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			16	2540	+			806					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.2416C>T	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	C	8.883	0.952035	0.18431	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.06528	3.29	5.37	0.727	0.18254	.	0.211332	0.32301	N	0.006287	T	0.05593	0.0147	L	0.46885	1.475	0.53005	D	0.99996	B	0.15719	0.014	B	0.20767	0.031	T	0.28839	-1.0031	10	0.62326	D	0.03	.	3.4523	0.07503	0.1879:0.4867:0.0:0.3254	.	806	Q6Q4G3	AMPQ_HUMAN	F	806;795	ENSP00000350541:L806F	ENSP00000350541:L806F	L	+	1	0	AC010282.1	115378089	0.442000	0.25633	0.896000	0.35187	0.207000	0.24258	0.605000	0.24179	0.515000	0.28320	0.591000	0.81541	CTT		0.363	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			21	41	0	0	0	1	0	21	41				
MORC2	22880	broad.mit.edu	37	22	31335616	31335616	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:31335616G>C	ENST00000397641.3	-	12	1473	c.1065C>G	c.(1063-1065)gcC>gcG	p.A355A	MORC2_ENST00000215862.4_Silent_p.A293A|MORC2_ENST00000469915.1_Intron			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	355						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						ACCGCTGCTTGGCCTCCTTGA	0.498																																						ENST00000215862.4																			0				breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(877-879)gcC>gcG		MORC family CW-type zinc finger 2							96.0	77.0	84.0					22																	31335616		2203	4300	6503	SO:0001819	synonymous_variant	22880						ATP binding|zinc ion binding	g.chr22:31335616G>C	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.1065C>G	22.37:g.31335616G>C						MORC2_ENST00000397641.2_Silent_p.A355A|MORC2_ENST00000469915.1_Intron	p.A293A	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN			13	2242	-			355					B2RNB1|Q9UF28|Q9Y6V2	Silent	SNP	ENST00000397641.3	37	c.879C>G																																																																																					0.498	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		3	32	0	0	0	1	0	3	32				
LHX1	3975	broad.mit.edu	37	17	35297614	35297614	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:35297614C>G	ENST00000254457.5	+	2	1609	c.198C>G	c.(196-198)tgC>tgG	p.C66W	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	66	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCGCAGGCTGCGCTCAGGGCA	0.647																																						ENST00000254457.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(196-198)tgC>tgG		LIM homeobox 1							33.0	29.0	30.0					17																	35297614		2201	4300	6501	SO:0001583	missense	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35297614C>G	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.198C>G	17.37:g.35297614C>G	ENSP00000254457:p.Cys66Trp					RP11-445F12.2_ENST00000607336.1_RNA	p.C66W	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN			2	1609	+		Breast(25;0.00607)	66			LIM zinc-binding 2.		Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	37	c.198C>G	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043918	0.55110	.	.	ENSG00000132130	ENST00000254457	D	0.99319	-5.74	3.81	0.699	0.18093	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.99566	0.9844	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98202	1.0468	10	0.87932	D	0	.	6.7337	0.23397	0.0:0.3643:0.0:0.6357	.	66	P48742	LHX1_HUMAN	W	66	ENSP00000254457:C66W	ENSP00000254457:C66W	C	+	3	2	LHX1	32371727	0.057000	0.20700	1.000000	0.80357	0.991000	0.79684	-0.564000	0.05936	0.202000	0.20498	0.561000	0.74099	TGC		0.647	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		6	7	0	0	0	1	0	6	7				
TRIM10	10107	broad.mit.edu	37	6	30128347	30128347	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:30128347C>T	ENST00000449742.2	-	1	364	c.289G>A	c.(289-291)Gat>Aat	p.D97N	TRIM15_ENST00000376694.4_5'Flank|TRIM10_ENST00000376704.3_Missense_Mutation_p.D97N	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	97					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						TGGCAGACATCCTCCTCTCCC	0.592																																						ENST00000449742.2																			0				ovary(1)	1						c.(289-291)Gat>Aat		tripartite motif containing 10							142.0	126.0	131.0					6																	30128347		2203	4300	6503	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30128347C>T	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.289G>A	6.37:g.30128347C>T	ENSP00000397073:p.Asp97Asn					TRIM10_ENST00000376704.3_Missense_Mutation_p.D97N	p.D97N	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN			1	364	-			97					A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.289G>A	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830036	0.32329	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.40225	1.04;1.04	5.37	2.54	0.30619	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	0.477199	0.19357	N	0.116257	T	0.15696	0.0378	L	0.39245	1.2	0.29365	N	0.864392	P;P	0.42692	0.565;0.787	B;B	0.39258	0.239;0.295	T	0.02966	-1.1088	10	0.42905	T	0.14	.	8.7182	0.34425	0.0:0.5993:0.3181:0.0827	.	97;97	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	N	97	ENSP00000397073:D97N;ENSP00000365894:D97N	ENSP00000365894:D97N	D	-	1	0	TRIM10	30236326	0.000000	0.05858	0.019000	0.16419	0.055000	0.15305	0.145000	0.16157	0.730000	0.32425	0.549000	0.68633	GAT		0.592	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			55	78	0	0	0	1	0	55	78				
ATCAY	85300	broad.mit.edu	37	19	3907813	3907813	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:3907813G>T	ENST00000450849.2	+	5	907	c.440G>T	c.(439-441)aGc>aTc	p.S147I	ATCAY_ENST00000301260.6_Missense_Mutation_p.S147I|ATCAY_ENST00000600960.1_Missense_Mutation_p.S147I|ATCAY_ENST00000398448.3_Missense_Mutation_p.S153I	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	147					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GAGGACGGCAGCGCCGCCAAC	0.642																																						ENST00000450849.2																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)	7						c.(439-441)aGc>aTc		ataxia, cerebellar, Cayman type							46.0	57.0	53.0					19																	3907813		2064	4195	6259	SO:0001583	missense	85300				transport		protein binding	g.chr19:3907813G>T		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.440G>T	19.37:g.3907813G>T	ENSP00000390941:p.Ser147Ile					ATCAY_ENST00000301260.6_Missense_Mutation_p.S147I|ATCAY_ENST00000600960.1_Missense_Mutation_p.S147I|ATCAY_ENST00000398448.3_Missense_Mutation_p.S153I	p.S147I	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	5	907	+		Hepatocellular(1079;0.137)	147					Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	c.440G>T	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	G	9.612	1.131565	0.21041	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.37235	1.23;1.23;1.21	5.08	4.01	0.46588	.	0.777035	0.13035	N	0.418954	T	0.23210	0.0561	N	0.08118	0	0.09310	N	1	B;B	0.31174	0.311;0.091	B;B	0.33121	0.158;0.148	T	0.19192	-1.0313	10	0.35671	T	0.21	1.9629	14.4229	0.67196	0.0:0.1487:0.8513:0.0	.	153;147	B4DS11;Q86WG3	.;ATCAY_HUMAN	I	147;147;147;153;125	ENSP00000390941:S147I;ENSP00000301260:S147I;ENSP00000381466:S153I	ENSP00000301260:S147I	S	+	2	0	ATCAY	3858813	0.017000	0.18338	0.003000	0.11579	0.016000	0.09150	2.071000	0.41500	1.105000	0.41606	0.638000	0.83543	AGC		0.642	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			29	47	1	0	1.13719e-10	1	1.276e-10	29	47				
CDC42EP1	11135	broad.mit.edu	37	22	37962592	37962592	+	Missense_Mutation	SNP	G	G	T	rs369211517		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:37962592G>T	ENST00000249014.4	+	2	656	c.236G>T	c.(235-237)cGc>cTc	p.R79L		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	79					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CGCTCACCCCGCAGCTTCCTG	0.706																																						ENST00000249014.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15						c.(235-237)cGc>cTc		CDC42 effector protein (Rho GTPase binding) 1							28.0	29.0	28.0					22																	37962592		2202	4297	6499	SO:0001583	missense	11135				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	g.chr22:37962592G>T	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.236G>T	22.37:g.37962592G>T	ENSP00000249014:p.Arg79Leu						p.R79L	NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN			2	656	+	Melanoma(58;0.0574)		79					A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	37	c.236G>T	CCDS13949.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383146	0.61845	.	.	ENSG00000128283	ENST00000249014	T	0.32988	1.43	4.7	4.7	0.59300	.	0.709732	0.12983	N	0.423069	T	0.40272	0.1110	L	0.27053	0.805	0.39970	D	0.974776	D	0.89917	1.0	D	0.81914	0.995	T	0.03840	-1.0999	10	0.20046	T	0.44	-20.6643	13.0073	0.58712	0.0:0.0:1.0:0.0	.	79	Q00587	BORG5_HUMAN	L	79	ENSP00000249014:R79L	ENSP00000249014:R79L	R	+	2	0	CDC42EP1	36292538	0.629000	0.27146	0.959000	0.39883	0.896000	0.52359	2.423000	0.44705	2.429000	0.82318	0.563000	0.77884	CGC		0.706	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243		16	34	1	0	4.14922e-12	1	4.7222e-12	16	34				
FAM20A	54757	broad.mit.edu	37	17	66551869	66551869	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:66551869G>C	ENST00000592554.1	-	2	1142	c.420C>G	c.(418-420)taC>taG	p.Y140*	RP11-120M18.5_ENST00000589826.1_lincRNA|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	140					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					TCTGCTCTCTGTACATCTTGT	0.512																																						ENST00000592554.1																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9						c.(418-420)taC>taG		family with sequence similarity 20, member A							74.0	63.0	67.0					17																	66551869		2203	4300	6503	SO:0001587	stop_gained	54757					extracellular region		g.chr17:66551869G>C	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.420C>G	17.37:g.66551869G>C	ENSP00000468308:p.Tyr140*					FAM20A_ENST00000226094.5_5'UTR	p.Y140*	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN			2	1142	-	Breast(10;1.64e-13)		140					B2RN47|B2RN49|Q9UF95	Nonsense_Mutation	SNP	ENST00000592554.1	37	c.420C>G	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	G	39	7.328459	0.98214	.	.	ENSG00000108950	ENST00000226094	.	.	.	5.84	4.87	0.63330	.	0.165039	0.42821	D	0.000647	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.4467	7.9218	0.29850	0.2167:0.0:0.7833:0.0	.	.	.	.	X	140	.	ENSP00000226094:Y140X	Y	-	3	2	FAM20A	64063464	0.754000	0.28360	0.687000	0.30102	0.975000	0.68041	0.909000	0.28558	1.471000	0.48121	0.561000	0.74099	TAC		0.512	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		6	48	0	0	0	1	0	6	48				
DCN	1634	broad.mit.edu	37	12	91558412	91558412	+	Silent	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:91558412A>G	ENST00000052754.5	-	3	795	c.294T>C	c.(292-294)gaT>gaC	p.D98D	DCN_ENST00000425043.1_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000441303.2_Silent_p.D98D|DCN_ENST00000552962.1_Silent_p.D98D|DCN_ENST00000393155.1_Silent_p.D98D|DCN_ENST00000420120.2_Intron|DCN_ENST00000228329.5_Intron|DCN_ENST00000303320.3_Silent_p.D98D	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	98					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TAAAGTCTCCATCTTTGATTT	0.363																																						ENST00000052754.5																			0				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						c.(292-294)gaT>gaC		decorin							153.0	137.0	142.0					12																	91558412		2203	4300	6503	SO:0001819	synonymous_variant	1634				organ morphogenesis	extracellular space		g.chr12:91558412A>G	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.294T>C	12.37:g.91558412A>G						DCN_ENST00000420120.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000441303.2_Silent_p.D98D|DCN_ENST00000228329.5_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000303320.3_Silent_p.D98D|DCN_ENST00000547568.2_Intron|DCN_ENST00000393155.1_Silent_p.D98D|DCN_ENST00000552962.1_Silent_p.D98D	p.D98D	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN			3	795	-			98					Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Silent	SNP	ENST00000052754.5	37	c.294T>C	CCDS9039.1																																																																																				0.363	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		12	25	0	0	0	1	0	12	25				
DLEC1	9940	broad.mit.edu	37	3	38135260	38135260	+	Splice_Site	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:38135260T>A	ENST00000308059.6	+	12	1940		c.e12+2		DLEC1_ENST00000452631.2_Splice_Site|DLEC1_ENST00000346219.3_Splice_Site					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AAATGCTACGTGGGTAACCCC	0.532																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.e12+2		deleted in lung and esophageal cancer 1							110.0	110.0	110.0					3																	38135260		1911	4112	6023	SO:0001630	splice_region_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38135260T>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1919+2T>A	3.37:g.38135260T>A						DLEC1_ENST00000452631.2_Splice_Site|DLEC1_ENST00000346219.3_Splice_Site				Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	12	1940	+									Splice_Site	SNP	ENST00000308059.6	37		CCDS2672.2	.	.	.	.	.	.	.	.	.	.	T	15.73	2.919051	0.52546	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.729	0.51726	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DLEC1	38110264	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	6.782000	0.75073	1.948000	0.56530	0.533000	0.62120	.		0.532	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337	Intron	38	53	0	0	0	1	0	38	53				
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)			p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373																																						ENST00000409886.3																			4	Substitution - coding silent(4)	p.A772A(4)	kidney(2)|endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2314-2316)gcG>gcA		RANBP2-like and GRIP domain containing 3							81.0	68.0	72.0					2																	107049631		692	1590	2282	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107049631C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2316G>A	2.37:g.107049631C>T						RGPD3_ENST00000304514.7_Silent_p.A772A	p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2403	-			772					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.2316G>A	CCDS46379.1																																																																																				0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		4	215	0	0	0	1	0	4	215				
PSG6	5675	broad.mit.edu	37	19	43414865	43414865	+	Silent	SNP	C	C	T	rs1058688		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:43414865C>T	ENST00000292125.2	-	3	617	c.573G>A	c.(571-573)agG>agA	p.R191R	PSG6_ENST00000402603.4_Silent_p.R191R|PSG6_ENST00000187910.2_Silent_p.R191R	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	191	Ig-like C2-type 1.		R -> S (in dbSNP:rs1058688).		female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R191S(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ACAGCTGCAACCTGTGAGTCA	0.498																																						ENST00000187910.2																			1	Substitution - Missense(1)	p.R191S(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(571-573)agG>agA		pregnancy specific beta-1-glycoprotein 6							216.0	219.0	218.0					19																	43414865		2201	4300	6501	SO:0001819	synonymous_variant	5675							g.chr19:43414865C>T		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.573G>A	19.37:g.43414865C>T						PSG6_ENST00000292125.2_Silent_p.R191R|PSG6_ENST00000402603.4_Silent_p.R191R	p.R191R	NM_001031850.3	NP_001027020.1					3	638	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Silent	SNP	ENST00000292125.2	37	c.573G>A	CCDS12613.1																																																																																				0.498	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		71	89	0	0	0	1	0	71	89				
NCKAP5	344148	broad.mit.edu	37	2	133971304	133971304	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:133971304G>T	ENST00000409261.1	-	5	564	c.191C>A	c.(190-192)aCa>aAa	p.T64K	NCKAP5_ENST00000317721.6_Missense_Mutation_p.T64K|NCKAP5_ENST00000409213.1_Missense_Mutation_p.T64K|NCKAP5_ENST00000405974.3_Missense_Mutation_p.T64K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	64										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCCCTCACTTGTTCTTTGGGC	0.488																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(190-192)aCa>aAa		NCK-associated protein 5							103.0	108.0	107.0					2																	133971304		1916	4110	6026	SO:0001583	missense	344148						protein binding	g.chr2:133971304G>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.191C>A	2.37:g.133971304G>T	ENSP00000387128:p.Thr64Lys					NCKAP5_ENST00000317721.6_Missense_Mutation_p.T64K|NCKAP5_ENST00000409213.1_Missense_Mutation_p.T64K|NCKAP5_ENST00000405974.3_Missense_Mutation_p.T64K	p.T64K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			5	564	-			64					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.191C>A	CCDS46418.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.98|10.98	1.503256|1.503256	0.26949|0.26949	.|.	.|.	ENSG00000176771|ENSG00000176771	ENST00000427594|ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834;ENST00000358991	.|T;T;T;T	.|0.39406	.|3.1;1.08;3.1;1.08	5.22|5.22	4.35|4.35	0.52113|0.52113	.|.	.|.	.|.	.|.	.|.	T|T	0.18425|0.18425	0.0442|0.0442	N|N	0.08118|0.08118	0|0	0.27980|0.27980	N|N	0.936055|0.936055	.|B;B;B;B	.|0.29988	.|0.008;0.03;0.013;0.264	.|B;B;B;B	.|0.24269	.|0.009;0.022;0.022;0.052	T|T	0.13791|0.13791	-1.0496|-1.0496	5|9	.|0.02654	.|T	.|1	.|.	10.0463|10.0463	0.42188|0.42188	0.0:0.5742:0.4258:0.0|0.0:0.5742:0.4258:0.0	.|.	.|64;39;64;64	.|F5GYX5;O14513-3;O14513-2;O14513	.|.;.;.;NCKP5_HUMAN	K|K	60|64;64;64;64;64;39;64	.|ENSP00000387128:T64K;ENSP00000386952:T64K;ENSP00000380603:T64K;ENSP00000385692:T64K	.|ENSP00000380603:T64K	Q|T	-|-	1|2	0|0	NCKAP5|NCKAP5	133687774|133687774	0.862000|0.862000	0.29867|0.29867	0.987000|0.987000	0.45799|0.45799	0.978000|0.978000	0.69477|0.69477	1.876000|1.876000	0.39588|0.39588	1.439000|1.439000	0.47511|0.47511	0.650000|0.650000	0.86243|0.86243	CAA|ACA		0.488	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		12	20	1	0	0.0167234	1	0.0170322	12	20				
SLC18A1	6570	broad.mit.edu	37	8	20004850	20004850	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:20004850C>G	ENST00000276373.5	-	15	1649	c.1383G>C	c.(1381-1383)atG>atC	p.M461I	SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000265808.7_Missense_Mutation_p.M429I|SLC18A1_ENST00000519026.1_Missense_Mutation_p.M429I|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000440926.1_Missense_Mutation_p.M461I	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	461					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	CAGTGATGACCATGAGCCAGG	0.532																																						ENST00000440926.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1381-1383)atG>atC		solute carrier family 18 (vesicular monoamine transporter), member 1							97.0	83.0	88.0					8																	20004850		2203	4300	6503	SO:0001583	missense	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20004850C>G		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1383G>C	8.37:g.20004850C>G	ENSP00000276373:p.Met461Ile					SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000519026.1_Missense_Mutation_p.M429I|SLC18A1_ENST00000276373.5_Missense_Mutation_p.M461I|SLC18A1_ENST00000265808.7_Missense_Mutation_p.M429I	p.M461I	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	16	1853	-			461					E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	c.1383G>C	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814399	0.90790	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000519026	T;T;T;T	0.80393	0.43;-1.37;-1.37;0.43	5.02	5.02	0.67125	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.188789	0.64402	D	0.000017	D	0.82435	0.5036	M	0.82630	2.6	0.80722	D	1	B;B	0.18166	0.026;0.016	B;B	0.22152	0.038;0.038	T	0.79179	-0.1910	10	0.32370	T	0.25	-23.2295	17.0585	0.86541	0.0:1.0:0.0:0.0	.	429;461	E9PDJ5;P54219	.;VMAT1_HUMAN	I	429;461;461;429	ENSP00000265808:M429I;ENSP00000276373:M461I;ENSP00000387549:M461I;ENSP00000429664:M429I	ENSP00000265808:M429I	M	-	3	0	SLC18A1	20049130	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.488000	0.81441	2.612000	0.88384	0.563000	0.77884	ATG		0.532	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			6	58	0	0	0	1	0	6	58				
ARHGAP12	94134	broad.mit.edu	37	10	32197118	32197118	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:32197118G>C	ENST00000344936.2	-	3	900	c.666C>G	c.(664-666)agC>agG	p.S222R	ARHGAP12_ENST00000311380.4_Missense_Mutation_p.S222R|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.S222R|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.S222R|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.S222R	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	222					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GTTCAGTGGAGCTGCTGCTAA	0.363																																						ENST00000375250.5																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31						c.(664-666)agC>agG		Rho GTPase activating protein 12							61.0	61.0	61.0					10																	32197118		2203	4300	6503	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32197118G>C	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.666C>G	10.37:g.32197118G>C	ENSP00000345808:p.Ser222Arg					ARHGAP12_ENST00000375245.4_Missense_Mutation_p.S222R|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.S222R|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.S222R|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.S222R	p.S222R	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN			3	907	-		Prostate(175;0.0199)	222					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.666C>G	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800606	0.50315	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.09538	3.0;2.97;3.04;3.04;3.0	5.21	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.18045	0.0433	N	0.24115	0.695	0.50813	D	0.999893	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.76575	0.972;0.949;0.977;0.972;0.972;0.988	T	0.01124	-1.1444	10	0.45353	T	0.12	.	11.9828	0.53129	0.1591:0.0:0.8409:0.0	.	222;222;222;222;222;222	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	R	222	ENSP00000310984:S222R;ENSP00000364399:S222R;ENSP00000345808:S222R;ENSP00000379448:S222R;ENSP00000364394:S222R	ENSP00000310984:S222R	S	-	3	2	ARHGAP12	32237124	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.568000	0.36418	2.593000	0.87608	0.655000	0.94253	AGC		0.363	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			10	37	0	0	0	1	0	10	37				
TYMS	7298	broad.mit.edu	37	18	670789	670789	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:670789C>G	ENST00000323274.10	+	5	793	c.654C>G	c.(652-654)gaC>gaG	p.D218E	TYMS_ENST00000323224.7_Missense_Mutation_p.D184E|TYMS_ENST00000323250.5_Missense_Mutation_p.D135E|TYMS_ENST00000581920.1_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	218					aging (GO:0007568)|cartilage development (GO:0051216)|circadian rhythm (GO:0007623)|deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|developmental growth (GO:0048589)|dTMP biosynthetic process (GO:0006231)|dTTP biosynthetic process (GO:0006235)|dUMP metabolic process (GO:0046078)|G1/S transition of mitotic cell cycle (GO:0000082)|immortalization of host cell by virus (GO:0019088)|intestinal epithelial cell maturation (GO:0060574)|mitotic cell cycle (GO:0000278)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|organ regeneration (GO:0031100)|polysaccharide metabolic process (GO:0005976)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to organophosphorus (GO:0046683)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|response to vitamin A (GO:0033189)|small molecule metabolic process (GO:0044281)|tetrahydrofolate metabolic process (GO:0046653)|uracil metabolic process (GO:0019860)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cofactor binding (GO:0048037)|drug binding (GO:0008144)|folic acid binding (GO:0005542)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|thymidylate synthase activity (GO:0004799)			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	GATCGGGAGACATGGGCCTCG	0.592																																						ENST00000323274.10																			0				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8						c.(652-654)gaC>gaG		thymidylate synthetase	Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)						180.0	143.0	155.0					18																	670789		2203	4300	6503	SO:0001583	missense	7298				DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity	g.chr18:670789C>G	X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS			Standard	NM_001071		Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323274.10:c.654C>G	18.37:g.670789C>G	ENSP00000315644:p.Asp218Glu					TYMS_ENST00000323224.7_Missense_Mutation_p.D184E|TYMS_ENST00000323250.5_Missense_Mutation_p.D135E|TYMS_ENST00000581920.1_3'UTR	p.D218E	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN			5	793	+			218					Q8WYK3|Q8WYK4	Missense_Mutation	SNP	ENST00000323274.10	37	c.654C>G	CCDS11821.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890325	0.72524	.	.	ENSG00000176890	ENST00000323274;ENST00000323224;ENST00000323250	.	.	.	6.09	3.34	0.38264	Thymidylate synthase/dCMP hydroxymethylase domain (2);	0.000000	0.85682	D	0.000000	D	0.87099	0.6093	H	0.97962	4.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.89390	0.3688	9	0.87932	D	0	-22.228	11.0453	0.47855	0.0:0.6991:0.0:0.3009	.	135;184;218	Q8WYK4;Q8WYK3;P04818	.;.;TYSY_HUMAN	E	218;184;135	.	ENSP00000314727:D184E	D	+	3	2	TYMS	660789	0.986000	0.35501	1.000000	0.80357	0.980000	0.70556	0.258000	0.18387	0.908000	0.36671	0.655000	0.94253	GAC		0.592	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254316.1	NM_001071		6	152	0	0	0	1	0	6	152				
TMEM126A	84233	broad.mit.edu	37	11	85366750	85366750	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:85366750C>G	ENST00000304511.2	+	4	502	c.393C>G	c.(391-393)gcC>gcG	p.A131A	TMEM126A_ENST00000528105.1_Silent_p.A61A|TMEM126A_ENST00000532180.1_Silent_p.A61A	NM_032273.3	NP_115649.1	Q9H061	T126A_HUMAN	transmembrane protein 126A	131					optic nerve development (GO:0021554)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GTCTAGCAGCCAGGTAGGAAA	0.363																																						ENST00000304511.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(1)	7						c.(391-393)gcC>gcG		transmembrane protein 126A							172.0	167.0	169.0					11																	85366750		2203	4299	6502	SO:0001819	synonymous_variant	84233					integral to membrane|mitochondrion		g.chr11:85366750C>G		CCDS8268.1, CCDS58165.1	11q14.1	2011-03-25			ENSG00000171202	ENSG00000171202			25382	protein-coding gene	gene with protein product		612988				11230166	Standard	NM_032273		Approved	DKFZp586C1924, OPA7	uc001par.3	Q9H061	OTTHUMG00000166975	ENST00000304511.2:c.393C>G	11.37:g.85366750C>G						TMEM126A_ENST00000528105.1_Silent_p.A61A|TMEM126A_ENST00000532180.1_Silent_p.A61A	p.A131A	NM_032273.3	NP_115649.1	Q9H061	T126A_HUMAN			4	502	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	131					B2R570|E9PI16	Silent	SNP	ENST00000304511.2	37	c.393C>G	CCDS8268.1																																																																																				0.363	TMEM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392177.1	NM_032273		15	57	0	0	0	1	0	15	57				
MRPL24	79590	broad.mit.edu	37	1	156708153	156708153	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:156708153G>A	ENST00000361531.2	-	3	397	c.261C>T	c.(259-261)gtC>gtT	p.V87V	MRPL24_ENST00000478899.1_5'Flank|MRPL24_ENST00000368211.4_Silent_p.V87V			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	87	KOW.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCCTCCCACGACCACCCAGT	0.562																																						ENST00000368211.4																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(259-261)gtC>gtT		mitochondrial ribosomal protein L24							267.0	247.0	254.0					1																	156708153		2203	4300	6503	SO:0001819	synonymous_variant	79590				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708153G>A	AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.261C>T	1.37:g.156708153G>A						MRPL24_ENST00000361531.2_Silent_p.V87V	p.V87V	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	Q96A35	RM24_HUMAN			3	399	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		87			KOW.		D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Silent	SNP	ENST00000361531.2	37	c.261C>T	CCDS1155.1																																																																																				0.562	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		5	325	0	0	0	1	0	5	325				
ERLIN2	11160	broad.mit.edu	37	8	37611047	37611047	+	Splice_Site	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:37611047G>T	ENST00000276461.5	+	11	886	c.819G>T	c.(817-819)aaG>aaT	p.K273N	ERLIN2_ENST00000519638.1_Splice_Site_p.K273N	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	273	Interaction with ERLIN1.				cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AAGCCAATAAGGTAAAGACCC	0.532																																						ENST00000276461.5																			0				NS(1)|large_intestine(1)|lung(5)	7						c.e11+1		ER lipid raft associated 2							54.0	50.0	52.0					8																	37611047		2203	4300	6503	SO:0001630	splice_region_variant	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37611047G>T	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.819+1G>T	8.37:g.37611047G>T						ERLIN2_ENST00000519638.1_Splice_Site_p.K273_splice	p.K273_splice	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		11	886	+		Lung NSC(58;0.174)	273			Interaction with ERLIN1.		A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Splice_Site	SNP	ENST00000276461.5	37	c.819_splice	CCDS6095.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192714	0.58017	.	.	ENSG00000147475	ENST00000276461;ENST00000521644;ENST00000519638	T;T;T	0.66995	-0.24;-0.24;-0.24	5.67	5.67	0.87782	.	0.044639	0.85682	D	0.000000	T	0.66137	0.2759	M	0.70595	2.14	0.80722	D	1	B	0.33694	0.421	B	0.27608	0.081	T	0.63941	-0.6523	10	0.27082	T	0.32	-29.7161	20.1169	0.97940	0.0:0.0:1.0:0.0	.	273	O94905	ERLN2_HUMAN	N	273	ENSP00000276461:K273N;ENSP00000429621:K273N;ENSP00000428112:K273N	ENSP00000276461:K273N	K	+	3	2	ERLIN2	37730205	1.000000	0.71417	1.000000	0.80357	0.345000	0.29048	9.672000	0.98629	2.835000	0.97688	0.591000	0.81541	AAG		0.532	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175	Missense_Mutation	26	15	1	0	3.65163e-15	1	4.27813e-15	26	15				
SERINC3	10955	broad.mit.edu	37	20	43132505	43132505	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:43132505C>G	ENST00000342374.4	-	8	1163	c.1006G>C	c.(1006-1008)Gat>Cat	p.D336H	SERINC3_ENST00000541235.1_Missense_Mutation_p.D281H|SERINC3_ENST00000255175.1_Missense_Mutation_p.D336H	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	336					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ATAAAATTATCTGAATCCAGT	0.403																																						ENST00000342374.4																			0				endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18						c.(1006-1008)Gat>Cat		serine incorporator 3							108.0	112.0	111.0					20																	43132505		2203	4300	6503	SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43132505C>G	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.1006G>C	20.37:g.43132505C>G	ENSP00000340243:p.Asp336His					SERINC3_ENST00000255175.1_Missense_Mutation_p.D336H|SERINC3_ENST00000541235.1_Missense_Mutation_p.D281H	p.D336H	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		8	1163	-		Myeloproliferative disorder(115;0.0122)	336					B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	c.1006G>C	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381067	0.24944	.	.	ENSG00000132824	ENST00000411544;ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.39	2.37	0.29283	.	0.399595	0.30043	N	0.010559	T	0.13415	0.0325	N	0.13098	0.295	0.18873	N	0.999981	B;P	0.41978	0.002;0.767	B;P	0.53450	0.026;0.726	T	0.08269	-1.0730	10	0.46703	T	0.11	.	7.5852	0.27989	0.0:0.4272:0.4205:0.1523	.	336;336	Q53GK8;Q13530	.;SERC3_HUMAN	H	75;336;336;303;281	ENSP00000414197:D75H;ENSP00000255175:D336H;ENSP00000340243:D336H;ENSP00000440966:D281H	ENSP00000255175:D336H	D	-	1	0	SERINC3	42565919	0.993000	0.37304	0.002000	0.10522	0.013000	0.08279	2.465000	0.45075	0.384000	0.24942	0.655000	0.94253	GAT		0.403	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		7	96	0	0	0	1	0	7	96				
COL9A3	1299	broad.mit.edu	37	20	61458596	61458596	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:61458596G>C	ENST00000343916.3	+	16	799	c.796G>C	c.(796-798)Gac>Cac	p.D266H		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	266	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TTTCCAGGGTGACCGAGGCGA	0.642																																						ENST00000343916.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(796-798)Gac>Cac		collagen, type IX, alpha 3							55.0	60.0	58.0					20																	61458596		2201	4300	6501	SO:0001583	missense	1299				axon guidance	collagen type IX		g.chr20:61458596G>C	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.796G>C	20.37:g.61458596G>C	ENSP00000341640:p.Asp266His						p.D266H	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN			16	799	+	Breast(26;5.68e-08)		266			Triple-helical region 3 (COL3).		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	c.796G>C	CCDS13505.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052639	0.36181	.	.	ENSG00000092758	ENST00000343916	D	0.94330	-3.4	3.93	3.93	0.45458	.	0.100542	0.64402	D	0.000004	D	0.94935	0.8362	M	0.62088	1.915	0.58432	D	0.999998	D	0.76494	0.999	D	0.65573	0.936	D	0.94248	0.7491	10	0.45353	T	0.12	.	11.8283	0.52280	0.0:0.0:1.0:0.0	.	266	Q14050	CO9A3_HUMAN	H	266	ENSP00000341640:D266H	ENSP00000341640:D266H	D	+	1	0	COL9A3	60929041	0.706000	0.27856	0.993000	0.49108	0.341000	0.28922	2.961000	0.49168	1.905000	0.55150	0.462000	0.41574	GAC		0.642	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		10	40	0	0	0	1	0	10	40				
BRMS1	25855	broad.mit.edu	37	11	66108730	66108730	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:66108730G>C	ENST00000359957.3	-	4	465	c.305C>G	c.(304-306)aCg>aGg	p.T102R	BRMS1_ENST00000425825.2_Missense_Mutation_p.T102R|RP11-867G23.12_ENST00000526655.1_RNA	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	102					apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						AAGGGGCTCCGTGTATTCAGG	0.617																																					GBM(7;55 307 2662 20856 28942)	ENST00000359957.3																			0				large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						c.(304-306)aCg>aGg		breast cancer metastasis suppressor 1							33.0	37.0	35.0					11																	66108730		2200	4295	6495	SO:0001583	missense	25855				apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding	g.chr11:66108730G>C	AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.305C>G	11.37:g.66108730G>C	ENSP00000353042:p.Thr102Arg					BRMS1_ENST00000425825.2_Missense_Mutation_p.T102R	p.T102R	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN			4	465	-			102					Q6IAI2	Missense_Mutation	SNP	ENST00000359957.3	37	c.305C>G	CCDS8135.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.22|10.22	1.289614|1.289614	0.23478|0.23478	.|.	.|.	ENSG00000174744|ENSG00000174744	ENST00000524699|ENST00000425825;ENST00000359957;ENST00000530756	.|.	.|.	.|.	4.17|4.17	3.25|3.25	0.37280|0.37280	.|.	.|0.259009	.|0.36665	.|N	.|0.002479	T|T	0.15478|0.15478	0.0373|0.0373	N|N	0.03115|0.03115	-0.41|-0.41	0.18873|0.18873	N|N	0.999986|0.999986	.|B;B	.|0.24258	.|0.023;0.1	.|B;B	.|0.26614	.|0.039;0.071	T|T	0.12967|0.12967	-1.0527|-1.0527	5|9	.|0.42905	.|T	.|0.14	-10.613|-10.613	6.3095|6.3095	0.21156|0.21156	0.223:0.0:0.777:0.0|0.223:0.0:0.777:0.0	.|.	.|102;102	.|Q9HCU9;G5E9I4	.|BRMS1_HUMAN;.	Q|R	64|102	.|.	.|ENSP00000353042:T102R	H|T	-|-	3|2	2|0	BRMS1|BRMS1	65865306|65865306	0.047000|0.047000	0.20315|0.20315	0.857000|0.857000	0.33713|0.33713	0.890000|0.890000	0.51754|0.51754	0.343000|0.343000	0.19944|0.19944	1.111000|1.111000	0.41721|0.41721	0.563000|0.563000	0.77884|0.77884	CAC|ACG		0.617	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392958.2	NM_015399		7	50	0	0	0	1	0	7	50				
DTX1	1840	broad.mit.edu	37	12	113533182	113533182	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:113533182G>A	ENST00000257600.3	+	8	2104	c.1601G>A	c.(1600-1602)cGc>cAc	p.R534H	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	534					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R534H(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGATTCCCTCGCCACTGCTAT	0.612																																						ENST00000257600.3																			1	Substitution - Missense(1)	p.R534H(1)	large_intestine(1)	central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1600-1602)cGc>cAc		deltex homolog 1 (Drosophila)							66.0	70.0	69.0					12																	113533182		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113533182G>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1601G>A	12.37:g.113533182G>A	ENSP00000257600:p.Arg534His					DTX1_ENST00000547974.1_3'UTR	p.R534H	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			8	2104	+			534					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1601G>A	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212931	0.95069	.	.	ENSG00000135144	ENST00000257600	T	0.63580	-0.05	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.84156	0.5410	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88999	0.3420	10	0.87932	D	0	-10.8209	16.305	0.82844	0.0:0.0:1.0:0.0	.	534	Q86Y01	DTX1_HUMAN	H	534	ENSP00000257600:R534H	ENSP00000257600:R534H	R	+	2	0	DTX1	112017565	1.000000	0.71417	0.938000	0.37757	0.988000	0.76386	9.636000	0.98440	2.114000	0.64651	0.561000	0.74099	CGC		0.612	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			30	46	0	0	0	1	0	30	46				
FAM134C	162427	broad.mit.edu	37	17	40735595	40735595	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:40735595C>G	ENST00000309428.5	-	7	790	c.731G>C	c.(730-732)cGc>cCc	p.R244P	FAM134C_ENST00000585894.1_Missense_Mutation_p.R147P|FAM134C_ENST00000543197.1_Missense_Mutation_p.R49P	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	244						integral component of membrane (GO:0016021)		p.R244H(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		AGCTCTGCGGCGTACTGTGGG	0.498																																						ENST00000309428.5																			1	Substitution - Missense(1)	p.R244H(1)	upper_aerodigestive_tract(1)	endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(730-732)cGc>cCc		family with sequence similarity 134, member C							164.0	122.0	137.0					17																	40735595		2203	4300	6503	SO:0001583	missense	162427					integral to membrane		g.chr17:40735595C>G	BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.731G>C	17.37:g.40735595C>G	ENSP00000309432:p.Arg244Pro					FAM134C_ENST00000543197.1_Missense_Mutation_p.R49P|FAM134C_ENST00000585894.1_Missense_Mutation_p.R147P	p.R244P	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	7	790	-		Breast(137;0.00116)	244					B3KR75	Missense_Mutation	SNP	ENST00000309428.5	37	c.731G>C	CCDS11432.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454897	0.84209	.	.	ENSG00000141699	ENST00000309428;ENST00000543197	T;T	0.49139	0.79;0.79	5.95	5.95	0.96441	.	0.155751	0.64402	D	0.000013	T	0.51041	0.1651	L	0.44542	1.39	0.50171	D	0.999858	P	0.40553	0.721	P	0.44946	0.465	T	0.49485	-0.8935	10	0.59425	D	0.04	-10.4242	18.5659	0.91116	0.0:1.0:0.0:0.0	.	244	Q86VR2	F134C_HUMAN	P	244;49	ENSP00000309432:R244P;ENSP00000446235:R49P	ENSP00000309432:R244P	R	-	2	0	FAM134C	37989121	0.986000	0.35501	1.000000	0.80357	0.975000	0.68041	1.049000	0.30392	2.825000	0.97269	0.655000	0.94253	CGC		0.498	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126		3	41	0	0	0	1	0	3	41				
ZSCAN21	7589	broad.mit.edu	37	7	99661734	99661734	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:99661734G>A	ENST00000292450.4	+	4	1080	c.916G>A	c.(916-918)Gtg>Atg	p.V306M	ZSCAN21_ENST00000477297.1_3'UTR|ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Silent_p.T271T|ZSCAN21_ENST00000543588.1_Silent_p.T271T	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	306					positive regulation of transcription, DNA-templated (GO:0045893)|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)	p.V306M(1)		breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GAAACCTTACGTGTGCACCAA	0.478																																						ENST00000292450.4																			1	Substitution - Missense(1)	p.V306M(1)	large_intestine(1)	breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(916-918)Gtg>Atg		zinc finger and SCAN domain containing 21							72.0	70.0	71.0					7																	99661734		2203	4300	6503	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99661734G>A	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.916G>A	7.37:g.99661734G>A	ENSP00000292450:p.Val306Met					ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Silent_p.T271T|ZSCAN21_ENST00000543588.1_Silent_p.T271T|ZNF3_ENST00000413658.2_3'UTR	p.V306M	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		4	1080	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		306					A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.916G>A	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103387	0.37145	.	.	ENSG00000166529	ENST00000292450;ENST00000379635	T	0.34472	1.36	4.08	2.2	0.27929	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.227404	0.23123	N	0.051667	T	0.35480	0.0933	L	0.33753	1.03	0.09310	N	1	D	0.60575	0.988	P	0.53224	0.721	T	0.10753	-1.0616	10	0.56958	D	0.05	.	8.8278	0.35065	0.1675:0.0:0.8325:0.0	.	306	Q9Y5A6	ZSC21_HUMAN	M	306;281	ENSP00000292450:V306M	ENSP00000292450:V306M	V	+	1	0	ZSCAN21	99499670	0.000000	0.05858	0.154000	0.22540	0.887000	0.51463	-0.481000	0.06552	0.638000	0.30545	0.655000	0.94253	GTG		0.478	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		23	36	0	0	0	1	0	23	36				
TTN	7273	broad.mit.edu	37	2	179441374	179441374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179441374G>T	ENST00000591111.1	-	275	64898	c.64674C>A	c.(64672-64674)tgC>tgA	p.C21558*	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.C20631*|TTN_ENST00000342175.6_Nonsense_Mutation_p.C14326*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.C23199*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.C14259*|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.C14134*|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21558	Fibronectin type-III 56. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTTACTTTGCACCTGAGAT	0.463																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(69595-69597)tgC>tgA		titin							239.0	232.0	234.0					2																	179441374		1941	4138	6079	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179441374G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64674C>A	2.37:g.179441374G>T	ENSP00000465570:p.Cys21558*					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.C20631*|TTN_ENST00000460472.2_Nonsense_Mutation_p.C14134*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.C14326*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.C14259*|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.C21558*|TTN-AS1_ENST00000590807.1_RNA	p.C23199*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		325	69821	-			21558			Fibronectin type-III 68.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.69597C>A		.	.	.	.	.	.	.	.	.	.	G	62	65.559934	0.99990	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.72	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.9023	0.47059	0.0688:0.1293:0.8019:0.0	.	.	.	.	X	20631;14134;14326;14259;14132	.	ENSP00000340554:C14326X	C	-	3	2	TTN	179149620	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.658000	0.46733	1.533000	0.49186	0.655000	0.94253	TGC		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		94	167	1	0	1.45819e-31	1	1.80887e-31	94	167				
OMD	4958	broad.mit.edu	37	9	95179154	95179154	+	Silent	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:95179154A>G	ENST00000375550.4	-	2	962	c.687T>C	c.(685-687)ccT>ccC	p.P229P	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	229					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						AAGGCAAACCAGGAGGCATTG	0.333			T	USP6	aneurysmal bone cysts																																	ENST00000375550.4				Dom	yes		9	9q22.31	4958	T	osteomodulin			M	USP6		aneurysmal bone cysts		0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						c.(685-687)ccT>ccC		osteomodulin							102.0	104.0	103.0					9																	95179154		2203	4300	6503	SO:0001819	synonymous_variant	4958				cell adhesion	proteinaceous extracellular matrix		g.chr9:95179154A>G	AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8134	protein-coding gene	gene with protein product	"""osteoadherin proteoglycan"""						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.687T>C	9.37:g.95179154A>G						CENPP_ENST00000375587.3_Intron	p.P229P	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN			2	962	-			229					Q5TBF4	Silent	SNP	ENST00000375550.4	37	c.687T>C	CCDS6696.1																																																																																				0.333	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014		52	70	0	0	0	1	0	52	70				
TAX1BP3	30851	broad.mit.edu	37	17	3568025	3568025	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:3568025C>G	ENST00000225525.3	-	2	262	c.107G>C	c.(106-108)gGa>gCa	p.G36A	P2RX5-TAX1BP3_ENST00000550383.1_3'UTR	NM_014604.3	NP_055419.1			Tax1 (human T-cell leukemia virus type I) binding protein 3											endometrium(1)	1				COAD - Colon adenocarcinoma(5;0.0761)		CTGGTCGATTCCACCTCCAAT	0.532																																						ENST00000225525.3																			0				endometrium(1)	1						c.(106-108)gGa>gCa		Tax1 (human T-cell leukemia virus type I) binding protein 3							92.0	82.0	85.0					17																	3568025		2203	4300	6503	SO:0001583	missense	30851				activation of Cdc42 GTPase activity|negative regulation of protein localization at cell surface|negative regulation of Wnt receptor signaling pathway|Rho protein signal transduction|Wnt receptor signaling pathway	cytoplasm|nucleus	protein C-terminus binding	g.chr17:3568025C>G	AF028823	CCDS11032.1, CCDS73940.1	17p13	2004-06-15			ENSG00000213977	ENSG00000213977			30684	protein-coding gene	gene with protein product	"""Tax interaction protein 1"""					8619474, 10673275	Standard	NM_014604		Approved	TIP-1	uc002fwc.3	O14907	OTTHUMG00000090701	ENST00000225525.3:c.107G>C	17.37:g.3568025C>G	ENSP00000225525:p.Gly36Ala					RP11-48B14.2_ENST00000550383.1_3'UTR	p.G36A	NM_014604.3	NP_055419.1	O14907	TX1B3_HUMAN		COAD - Colon adenocarcinoma(5;0.0761)	2	262	-			36			PDZ.			Missense_Mutation	SNP	ENST00000225525.3	37	c.107G>C	CCDS11032.1	.	.	.	.	.	.	.	.	.	.	c	31	5.063824	0.93898	.	.	ENSG00000213977	ENST00000225525	T	0.26957	1.7	5.24	5.24	0.73138	PDZ/DHR/GLGF (4);	0.000000	0.85682	U	0.000000	T	0.57621	0.2066	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64153	-0.6474	10	0.87932	D	0	.	18.2024	0.89843	0.0:1.0:0.0:0.0	.	36	O14907	TX1B3_HUMAN	A	36	ENSP00000225525:G36A	ENSP00000225525:G36A	G	-	2	0	TAX1BP3	3514774	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.303000	0.78871	2.619000	0.88677	0.561000	0.74099	GGA		0.532	TAX1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207389.1	NM_014604		4	88	0	0	0	1	0	4	88				
DRC7	84229	broad.mit.edu	37	16	57760127	57760127	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:57760127C>G	ENST00000360716.3	+	14	2127	c.1906C>G	c.(1906-1908)Cgg>Ggg	p.R636G	CCDC135_ENST00000394337.4_Missense_Mutation_p.R636G|CCDC135_ENST00000336825.8_Missense_Mutation_p.R571G			Q8IY82	CC135_HUMAN		636					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CGAGTTCCTGCGGCGCACCGA	0.662																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1906-1908)Cgg>Ggg		coiled-coil domain containing 135							73.0	66.0	69.0					16																	57760127		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57760127C>G																												ENST00000360716.3:c.1906C>G	16.37:g.57760127C>G	ENSP00000353942:p.Arg636Gly					CCDC135_ENST00000336825.8_Missense_Mutation_p.R571G|CCDC135_ENST00000394337.4_Missense_Mutation_p.R636G	p.R636G			Q8IY82	CC135_HUMAN			14	2127	+			636					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.1906C>G	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	c	14.99	2.700070	0.48307	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.10668	3.02;2.85;3.02	4.98	2.86	0.33363	.	0.245105	0.39341	N	0.001385	T	0.13243	0.0321	M	0.67953	2.075	0.28461	N	0.915868	P;P	0.49559	0.849;0.925	B;B	0.44315	0.342;0.446	T	0.10660	-1.0620	10	0.87932	D	0	-13.8056	5.6784	0.17761	0.36:0.5362:0.0:0.1038	.	571;636	Q8IY82-2;Q8IY82	.;CC135_HUMAN	G	636;571;636	ENSP00000377869:R636G;ENSP00000338938:R571G;ENSP00000353942:R636G	ENSP00000338938:R571G	R	+	1	2	CCDC135	56317628	1.000000	0.71417	0.997000	0.53966	0.921000	0.55340	2.360000	0.44151	1.111000	0.41721	0.655000	0.94253	CGG		0.662	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			5	105	0	0	0	1	0	5	105				
TMCO5A	145942	broad.mit.edu	37	15	38229119	38229119	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:38229119C>T	ENST00000319669.4	+	3	314	c.212C>T	c.(211-213)aCg>aTg	p.T71M	TMCO5A_ENST00000558158.1_Missense_Mutation_p.T71M|TMCO5A_ENST00000559502.1_Missense_Mutation_p.T71M|TMCO5A_ENST00000540944.1_Missense_Mutation_p.T71M	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	71						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						AACCGCACCACGATGGAAAGG	0.507																																						ENST00000558158.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						c.(211-213)aCg>aTg		transmembrane and coiled-coil domains 5A							117.0	119.0	118.0					15																	38229119		2200	4297	6497	SO:0001583	missense	145942					integral to membrane		g.chr15:38229119C>T	BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 5"""	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.212C>T	15.37:g.38229119C>T	ENSP00000327234:p.Thr71Met					TMCO5A_ENST00000540944.1_Missense_Mutation_p.T71M|TMCO5A_ENST00000559502.1_Missense_Mutation_p.T71M|TMCO5A_ENST00000319669.4_Missense_Mutation_p.T71M	p.T71M			Q8N6Q1	TMC5A_HUMAN			4	366	+			71					Q8NA63	Missense_Mutation	SNP	ENST00000319669.4	37	c.212C>T	CCDS10046.1	.	.	.	.	.	.	.	.	.	.	c	2.263	-0.368917	0.05069	.	.	ENSG00000166069	ENST00000540944;ENST00000319669	.	.	.	4.52	-1.71	0.08133	.	1.697000	0.02690	N	0.110501	T	0.31295	0.0792	N	0.25647	0.755	0.09310	N	1	B;B	0.20988	0.029;0.05	B;B	0.16722	0.01;0.016	T	0.29336	-1.0015	9	0.44086	T	0.13	9.3729	8.5244	0.33296	0.0:0.3882:0.0:0.6118	.	71;71	Q8N6Q1;Q8N6Q1-2	TMC5A_HUMAN;.	M	71	.	ENSP00000327234:T71M	T	+	2	0	TMCO5A	36016411	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.674000	0.05233	-0.266000	0.09339	-1.652000	0.00757	ACG		0.507	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252012.1	NM_152453		10	17	0	0	0	1	0	10	17				
RSPO2	340419	broad.mit.edu	37	8	108913365	108913365	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:108913365G>T	ENST00000276659.5	-	6	1290	c.670C>A	c.(670-672)Ctg>Atg	p.L224M	RSPO2_ENST00000378439.2_Missense_Mutation_p.L160M|RSPO2_ENST00000517939.1_Missense_Mutation_p.L157M|RSPO2_ENST00000517781.1_Missense_Mutation_p.L160M	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	224					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CTTTCTATCAGcttccttttc	0.423																																						ENST00000276659.5																		EIF3E/RSPO2(6)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28						c.(670-672)Ctg>Atg		R-spondin 2							125.0	118.0	120.0					8																	108913365		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:108913365G>T	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.670C>A	8.37:g.108913365G>T	ENSP00000276659:p.Leu224Met					RSPO2_ENST00000517939.1_Missense_Mutation_p.L157M|RSPO2_ENST00000378439.2_Missense_Mutation_p.L160M|RSPO2_ENST00000517781.1_Missense_Mutation_p.L160M	p.L224M	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		6	1290	-			224					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.670C>A	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522449	0.64747	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	5.95	2.87	0.33458	.	1.192330	0.06109	N	0.666775	T	0.75287	0.3829	N	0.08118	0	0.44771	D	0.997772	D;D	0.76494	0.997;0.999	D;D	0.83275	0.986;0.996	T	0.67337	-0.5696	10	0.49607	T	0.09	-8.286	5.3544	0.16053	0.5084:0.0:0.4916:0.0	.	224;160	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	M	157;160;160;224;157	ENSP00000428940:L157M;ENSP00000427937:L160M;ENSP00000367698:L160M;ENSP00000276659:L224M;ENSP00000428614:L157M	ENSP00000276659:L224M	L	-	1	2	RSPO2	108982541	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	1.410000	0.34691	0.873000	0.35799	-0.143000	0.13931	CTG		0.423	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		15	58	1	0	1.3612e-06	1	1.46544e-06	15	58				
TCF20	6942	broad.mit.edu	37	22	42606258	42606258	+	Missense_Mutation	SNP	G	G	A	rs267606263		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:42606258G>A	ENST00000359486.3	-	1	5190	c.5054C>T	c.(5053-5055)tCg>tTg	p.S1685L	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.S1685L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1685					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CATAAAGGACGAGGCCGGGAG	0.567																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(5053-5055)tCg>tTg		transcription factor 20 (AR1)							73.0	73.0	73.0					22																	42606258		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42606258G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5054C>T	22.37:g.42606258G>A	ENSP00000352463:p.Ser1685Leu					TCF20_ENST00000335626.4_Missense_Mutation_p.S1685L	p.S1685L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	5190	-			1685					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.5054C>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034828	0.75617	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.72835	-0.69;-0.68	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000005	D	0.84561	0.5499	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.984	D	0.84666	0.0709	10	0.72032	D	0.01	-9.5083	20.3928	0.98949	0.0:0.0:1.0:0.0	.	1685;1685	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	L	1685	ENSP00000352463:S1685L;ENSP00000335561:S1685L	ENSP00000335561:S1685L	S	-	2	0	TCF20	40936202	1.000000	0.71417	0.441000	0.26858	0.733000	0.41908	9.680000	0.98651	2.813000	0.96785	0.655000	0.94253	TCG		0.567	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		24	100	0	0	0	1	0	24	100				
TMEM132D	121256	broad.mit.edu	37	12	129694095	129694095	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:129694095C>G	ENST00000422113.2	-	5	1739	c.1413G>C	c.(1411-1413)gaG>gaC	p.E471D	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	471					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACGATCTACACTCCACAGACT	0.577																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(1411-1413)gaG>gaC		transmembrane protein 132D							113.0	91.0	98.0					12																	129694095		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129694095C>G	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1413G>C	12.37:g.129694095C>G	ENSP00000408581:p.Glu471Asp					RP11-669N7.3_ENST00000542578.1_lincRNA	p.E471D	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	5	1739	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	471					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1413G>C	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419033	0.25552	.	.	ENSG00000151952	ENST00000422113	T	0.15834	2.39	5.41	1.56	0.23342	.	0.265237	0.31685	N	0.007223	T	0.16041	0.0386	M	0.65320	2	0.32225	N	0.574762	P	0.39480	0.675	B	0.36666	0.23	T	0.14727	-1.0462	9	.	.	.	-30.6873	9.1362	0.36875	0.0:0.5737:0.0:0.4263	.	471	Q14C87	T132D_HUMAN	D	471	ENSP00000408581:E471D	.	E	-	3	2	TMEM132D	128260048	0.996000	0.38824	0.981000	0.43875	0.129000	0.20672	0.465000	0.22004	0.268000	0.21939	-0.136000	0.14681	GAG		0.577	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		3	30	0	0	0	1	0	3	30				
NF1	4763	broad.mit.edu	37	17	29663905	29663905	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:29663905T>C	ENST00000358273.4	+	42	6783	c.6400T>C	c.(6400-6402)Tgt>Cgt	p.C2134R	NF1_ENST00000444181.2_5'Flank|NF1_ENST00000356175.3_Missense_Mutation_p.C2113R|NF1_ENST00000417592.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2134					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCACTCTCTGTGTACTTGTTC	0.403			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(6400-6402)Tgt>Cgt		neurofibromin 1							118.0	104.0	109.0					17																	29663905		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29663905T>C		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6400T>C	17.37:g.29663905T>C	ENSP00000351015:p.Cys2134Arg	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.C2113R	p.C2134R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	42	6783	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2134					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.6400T>C	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.933766	0.73442	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.85339	-1.97;-1.97;-1.97	5.48	5.48	0.80851	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	D	0.93141	0.7816	M	0.87180	2.865	0.80722	D	1	D;D	0.60575	0.988;0.988	D;P	0.77004	0.989;0.837	D	0.94185	0.7435	10	0.72032	D	0.01	.	15.865	0.79057	0.0:0.0:0.0:1.0	.	2113;2134	P21359-2;P21359	.;NF1_HUMAN	R	2134;2113;1779	ENSP00000351015:C2134R;ENSP00000348498:C2113R;ENSP00000389907:C1779R	ENSP00000348498:C2113R	C	+	1	0	NF1	26688031	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.537000	0.82033	2.185000	0.69588	0.533000	0.62120	TGT		0.403	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		24	21	0	0	0	1	0	24	21				
USP32	84669	broad.mit.edu	37	17	58258804	58258804	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:58258804C>G	ENST00000300896.4	-	32	4623	c.4429G>C	c.(4429-4431)Gaa>Caa	p.E1477Q	USP32_ENST00000592339.1_Missense_Mutation_p.E1147Q	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1477	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CCACATGCTTCATGCTCATAA	0.498																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(4429-4431)Gaa>Caa		ubiquitin specific peptidase 32							109.0	96.0	100.0					17																	58258804		2203	4297	6500	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58258804C>G	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4429G>C	17.37:g.58258804C>G	ENSP00000300896:p.Glu1477Gln					USP32_ENST00000592339.1_Missense_Mutation_p.E1147Q	p.E1477Q	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		32	4623	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1477					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.4429G>C	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.498536	0.44455	.	.	ENSG00000170832	ENST00000300896	T	0.46451	0.87	5.37	5.37	0.77165	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.222920	0.40385	N	0.001112	T	0.28067	0.0692	N	0.19112	0.55	0.80722	D	1	B	0.27316	0.175	B	0.32533	0.147	T	0.10567	-1.0624	10	0.29301	T	0.29	.	8.1732	0.31266	0.0:0.8287:0.0:0.1713	.	1477	Q8NFA0	UBP32_HUMAN	Q	1477	ENSP00000300896:E1477Q	ENSP00000300896:E1477Q	E	-	1	0	USP32	55613586	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.355000	0.59424	2.682000	0.91365	0.555000	0.69702	GAA		0.498	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		9	93	0	0	0	1	0	9	93				
NR1D2	9975	broad.mit.edu	37	3	24009502	24009502	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:24009502C>G	ENST00000312521.4	+	7	1850	c.1531C>G	c.(1531-1533)Ctg>Gtg	p.L511V	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	511	Interaction with ZNHIT1.|Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						AGCTGTTGTCCTGGTATCTGC	0.443																																						ENST00000312521.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						c.(1531-1533)Ctg>Gtg		nuclear receptor subfamily 1, group D, member 2							130.0	122.0	125.0					3																	24009502		2203	4300	6503	SO:0001583	missense	9975				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr3:24009502C>G	BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.1531C>G	3.37:g.24009502C>G	ENSP00000310006:p.Leu511Val					NR1D2_ENST00000492552.1_3'UTR	p.L511V	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN			7	1850	+			511					B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	37	c.1531C>G	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116501	0.77323	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.97811	-4.55	5.94	5.07	0.68467	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98639	0.9544	M	0.82630	2.6	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99305	1.0902	10	0.56958	D	0.05	.	14.8797	0.70522	0.0:0.9315:0.0:0.0685	.	511	Q14995	NR1D2_HUMAN	V	511	ENSP00000310006:L511V	ENSP00000310006:L511V	L	+	1	2	NR1D2	23984506	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.011000	0.57124	1.511000	0.48818	0.655000	0.94253	CTG		0.443	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3			4	47	0	0	0	1	0	4	47				
USP45	85015	broad.mit.edu	37	6	99912603	99912603	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:99912603C>G	ENST00000327681.6	-	13	1717	c.1185G>C	c.(1183-1185)tgG>tgC	p.W395C	USP45_ENST00000500704.2_Missense_Mutation_p.W395C|USP45_ENST00000539675.1_5'Flank|USP45_ENST00000392738.2_Missense_Mutation_p.W75C|USP45_ENST00000369233.2_Intron	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	395	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TCATTCTTCCCCAAAGTAAAG	0.338																																						ENST00000327681.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(1183-1185)tgG>tgC		ubiquitin specific peptidase 45							72.0	70.0	71.0					6																	99912603		2203	4299	6502	SO:0001583	missense	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99912603C>G	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.1185G>C	6.37:g.99912603C>G	ENSP00000333376:p.Trp395Cys					USP45_ENST00000392738.2_Missense_Mutation_p.W75C|USP45_ENST00000500704.2_Missense_Mutation_p.W395C|USP45_ENST00000369233.2_Intron	p.W395C	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	13	1717	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	395					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	37	c.1185G>C	CCDS34501.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.473|5.473	0.272305|0.272305	0.10349|0.10349	.|.	.|.	ENSG00000123552|ENSG00000123552	ENST00000496090|ENST00000392738;ENST00000500704;ENST00000327681;ENST00000511403	.|T;T;T	.|0.17213	.|2.29;3.78;3.78	5.51|5.51	4.63|4.63	0.57726|0.57726	.|Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.|0.525310	.|0.20101	.|N	.|0.099228	T|T	0.07369|0.07369	0.0186|0.0186	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|B;B	.|0.30851	.|0.127;0.297	.|B;B	.|0.40101	.|0.319;0.213	T|T	0.24799|0.24799	-1.0150|-1.0150	5|10	.|0.36615	.|T	.|0.2	.|.	12.5458|12.5458	0.56199|0.56199	0.302:0.698:0.0:0.0|0.302:0.698:0.0:0.0	.|.	.|395;75	.|Q70EL2;Q70EL2-3	.|UBP45_HUMAN;.	A|C	106|75;395;395;93	.|ENSP00000376495:W75C;ENSP00000424372:W395C;ENSP00000333376:W395C	.|ENSP00000333376:W395C	G|W	-|-	2|3	0|0	USP45|USP45	100019324|100019324	0.959000|0.959000	0.32827|0.32827	0.871000|0.871000	0.34182|0.34182	0.021000|0.021000	0.10359|0.10359	1.279000|1.279000	0.33191|0.33191	1.257000|1.257000	0.44085|0.44085	0.591000|0.591000	0.81541|0.81541	GGG|TGG		0.338	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		7	31	0	0	0	1	0	7	31				
S100A7A	338324	broad.mit.edu	37	1	153391773	153391773	+	Silent	SNP	G	G	A	rs371880984		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:153391773G>A	ENST00000368729.4	+	3	351	c.294G>A	c.(292-294)ggG>ggA	p.G98G	S100A7A_ENST00000368728.2_Silent_p.G98G|S100A7A_ENST00000329256.2_Silent_p.G98G	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	98						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGTTCTGGGGGAAGCCAGT	0.527																																						ENST00000368729.4																			0				cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12						c.(292-294)ggG>ggA		S100 calcium binding protein A7A							45.0	45.0	45.0					1																	153391773		2203	4300	6503	SO:0001819	synonymous_variant	338324					cytoplasm	calcium ion binding	g.chr1:153391773G>A	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	21657	protein-coding gene	gene with protein product			"""S100 calcium binding protein A15"", ""S100 calcium binding protein A7-like 1"""	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.294G>A	1.37:g.153391773G>A						S100A7A_ENST00000329256.2_Silent_p.G98G|S100A7A_ENST00000368728.2_Silent_p.G98G	p.G98G	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	351	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		98					D3DV38|Q5SY69	Silent	SNP	ENST00000368729.4	37	c.294G>A	CCDS30872.1																																																																																				0.527	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		20	41	0	0	0	1	0	20	41				
FRY	10129	broad.mit.edu	37	13	32821508	32821508	+	Missense_Mutation	SNP	C	C	T	rs373719773		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:32821508C>T	ENST00000380250.3	+	48	7373	c.6877C>T	c.(6877-6879)Cgg>Tgg	p.R2293W		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2293						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGTAGTTTCTCGGTCAGCCAG	0.388																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(6877-6879)Cgg>Tgg		furry homolog (Drosophila)		C	TRP/ARG	1,3683		0,1,1841	128.0	123.0	125.0		6877	4.3	0.2	13		125	0,8196		0,0,4098	no	missense	FRY	NM_023037.2	101	0,1,5939	TT,TC,CC		0.0,0.0271,0.0084	probably-damaging	2293/3014	32821508	1,11879	1842	4098	5940	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32821508C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6877C>T	13.37:g.32821508C>T	ENSP00000369600:p.Arg2293Trp						p.R2293W	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	48	7373	+		Lung SC(185;0.0271)	2293					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.6877C>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194625	0.78902	2.71E-4	0.0	ENSG00000073910	ENST00000380250	T	0.31247	1.5	5.16	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62978	-0.6739	10	0.72032	D	0.01	.	14.8911	0.70609	0.1445:0.8555:0.0:0.0	.	2293	Q5TBA9	FRY_HUMAN	W	2293	ENSP00000369600:R2293W	ENSP00000369600:R2293W	R	+	1	2	FRY	31719508	1.000000	0.71417	0.229000	0.23960	0.808000	0.45660	6.045000	0.71020	1.123000	0.41961	0.655000	0.94253	CGG		0.388	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		46	55	0	0	0	1	0	46	55				
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48744575	48744575	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:48744575G>C	ENST00000341698.2	-	5	627	c.628C>G	c.(628-630)Cca>Gca	p.P210A	TMEM189_ENST00000371650.5_Missense_Mutation_p.P207A|TMEM189_ENST00000371656.2_Missense_Mutation_p.P135A|TMEM189_ENST00000371652.4_Missense_Mutation_p.P210A|TMEM189_ENST00000557021.1_Missense_Mutation_p.P210A	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			TGTTTACGTGGCAGGATGACA	0.597																																						ENST00000557021.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8						c.(628-630)Cca>Gca		transmembrane protein 189							258.0	155.0	190.0					20																	48744575		2203	4300	6503	SO:0001583	missense	387521							g.chr20:48744575G>C	U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.628C>G	20.37:g.48744575G>C	ENSP00000344166:p.Pro210Ala					TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.P210A|TMEM189_ENST00000371650.5_Missense_Mutation_p.P207A|TMEM189_ENST00000371652.4_Missense_Mutation_p.P210A|TMEM189_ENST00000371656.2_Missense_Mutation_p.P135A	p.P210A	NM_199203.2	NP_954673.1			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)		5	788	-									Missense_Mutation	SNP	ENST00000341698.2	37	c.628C>G	CCDS13424.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.964718	0.92791	.	.	ENSG00000124208;ENSG00000240849;ENSG00000240849;ENSG00000240849;ENSG00000240849	ENST00000341698;ENST00000557021;ENST00000371650;ENST00000371656;ENST00000371652	T;T;T;T	0.56941	0.43;0.43;0.67;0.68	5.23	5.23	0.72850	Kua-ubiquitin conjugating enzyme hybrid, localisation (1);	0.000000	0.37669	U	0.001997	T	0.74703	0.3751	M	0.80183	2.485	0.47698	D	0.999499	D;D;D;D	0.76494	0.991;0.999;0.999;0.982	D;D;D;D	0.78314	0.976;0.991;0.991;0.979	T	0.76255	-0.3026	10	0.46703	T	0.11	-6.1429	18.7976	0.92001	0.0:0.0:1.0:0.0	.	135;207;210;210	Q5TGE2;Q5TGE1;A5PLL7;G3V2F7	.;.;TM189_HUMAN;.	A	210;210;207;135;210	ENSP00000344166:P210A;ENSP00000450635:P210A;ENSP00000360713:P207A;ENSP00000360715:P210A	ENSP00000360713:P207A	P	-	1	0	TMEM189-UBE2V1;TMEM189	48177982	1.000000	0.71417	0.994000	0.49952	0.945000	0.59286	9.415000	0.97375	2.411000	0.81874	0.563000	0.77884	CCA		0.597	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5			6	42	0	0	0	1	0	6	42				
TTN	7273	broad.mit.edu	37	2	179441372	179441372	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179441372T>C	ENST00000591111.1	-	275	64900	c.64676A>G	c.(64675-64677)aAa>aGa	p.K21559R	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K20632R|TTN_ENST00000342175.6_Missense_Mutation_p.K14327R|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K23200R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K14260R|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K14135R|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21559	Fibronectin type-III 56. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTGTTACTTTGCACCTGAG	0.468																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(69598-69600)aAa>aGa		titin							237.0	230.0	233.0					2																	179441372		1941	4139	6080	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179441372T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64676A>G	2.37:g.179441372T>C	ENSP00000465570:p.Lys21559Arg					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K20632R|TTN_ENST00000460472.2_Missense_Mutation_p.K14135R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K14327R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K14260R|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K21559R|TTN-AS1_ENST00000590807.1_RNA	p.K23200R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		325	69823	-			21559			Fibronectin type-III 68.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.69599A>G		.	.	.	.	.	.	.	.	.	.	T	13.74	2.327520	0.41197	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.72	4.53	0.55603	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33933	0.0880	N	0.10685	0.025	0.42008	D	0.990929	B;B;B;B	0.29162	0.235;0.235;0.235;0.142	B;B;B;B	0.29524	0.103;0.103;0.103;0.072	T	0.28004	-1.0057	9	0.87932	D	0	.	12.1844	0.54229	0.0:0.0676:0.0:0.9324	.	14135;14260;14327;21559	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	20632;14135;14327;14260;14133	ENSP00000343764:K20632R;ENSP00000434586:K14135R;ENSP00000340554:K14327R;ENSP00000352154:K14260R	ENSP00000340554:K14327R	K	-	2	0	TTN	179149618	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.997000	0.88414	1.061000	0.40601	0.533000	0.62120	AAA		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		91	165	0	0	0	1	0	91	165				
CREB3L3	84699	broad.mit.edu	37	19	4171755	4171755	+	Missense_Mutation	SNP	G	G	T	rs145017010		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:4171755G>T	ENST00000078445.2	+	10	1322	c.1175G>T	c.(1174-1176)cGa>cTa	p.R392L	CREB3L3_ENST00000252587.3_Nonsense_Mutation_p.E281*|CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000595923.1_Missense_Mutation_p.R391L|CREB3L3_ENST00000602257.1_Missense_Mutation_p.R390L	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	392					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GACACAACCCGAGAAGAGTCT	0.647																																						ENST00000252587.3																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(841-843)Gag>Tag		cAMP responsive element binding protein 3-like 3							47.0	58.0	54.0					19																	4171755		2201	4294	6495	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4171755G>T		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.1175G>T	19.37:g.4171755G>T	ENSP00000078445:p.Arg392Leu					CREB3L3_ENST00000595923.1_Missense_Mutation_p.R391L|CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000602257.1_Missense_Mutation_p.R390L|CREB3L3_ENST00000078445.2_Missense_Mutation_p.R392L	p.E281*			Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	7	984	+			119			Leucine-zipper.		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Nonsense_Mutation	SNP	ENST00000078445.2	37	c.841G>T	CCDS12121.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.66|16.66	3.184747|3.184747	0.57909|0.57909	.|.	.|.	ENSG00000060566|ENSG00000060566	ENST00000252587|ENST00000078445;ENST00000381943	.|D	.|0.83335	.|-1.71	3.83|3.83	-2.23|-2.23	0.06930|0.06930	.|.	.|7.908350	.|0.00166	.|N	.|0.000000	.|T	.|0.63663	.|0.2530	N|N	0.08118|0.08118	0|0	0.38145|0.38145	D|D	0.938573|0.938573	.|B;B;B	.|0.23891	.|0.093;0.001;0.001	.|B;B;B	.|0.17433	.|0.018;0.002;0.001	.|T	.|0.53450	.|-0.8437	.|10	0.48119|0.09843	T|T	0.1|0.71	6.7165|6.7165	5.8817|5.8817	0.18858|0.18858	0.4441:0.1485:0.4073:0.0|0.4441:0.1485:0.4073:0.0	.|.	.|390;391;392	.|B7ZL69;Q68CJ9-2;Q68CJ9	.|.;.;CR3L3_HUMAN	X|L	281|392;350	.|ENSP00000078445:R392L	ENSP00000252587:E281X|ENSP00000078445:R392L	E|R	+|+	1|2	0|0	CREB3L3|CREB3L3	4122755|4122755	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.468000|-0.468000	0.06656|0.06656	-1.052000|-1.052000	0.03222|0.03222	-1.346000|-1.346000	0.01242|0.01242	GAG|CGA		0.647	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		18	129	1	0	8.34094e-07	1	8.99316e-07	18	129				
MYT1L	23040	broad.mit.edu	37	2	1926596	1926596	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:1926596C>G	ENST00000399161.2	-	10	1692	c.945G>C	c.(943-945)gtG>gtC	p.V315V	MYT1L_ENST00000428368.2_Silent_p.V315V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	315					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CGCTCTCCTCCACCATCTTTT	0.502																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(943-945)gtG>gtC		myelin transcription factor 1-like							123.0	129.0	127.0					2																	1926596		2151	4247	6398	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926596C>G	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.945G>C	2.37:g.1926596C>G						MYT1L_ENST00000428368.2_Silent_p.V315V	p.V315V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1692	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	315					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.945G>C																																																																																					0.502	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		6	104	0	0	0	1	0	6	104				
RHOA	387	broad.mit.edu	37	3	49397732	49397732	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:49397732T>A	ENST00000418115.1	-	5	876	c.492A>T	c.(490-492)aaA>aaT	p.K164N	RHOA_ENST00000454011.2_3'UTR|GPX1_ENST00000419349.1_5'Flank|GPX1_ENST00000419783.1_5'Flank|GPX1_ENST00000496791.1_5'Flank|RHOA_ENST00000422781.1_3'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	164					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCACTCCATCTTTGGTCTTTG	0.463																																						ENST00000418115.1																			0				cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(490-492)aaA>aaT		ras homolog family member A	Atorvastatin(DB01076)|Simvastatin(DB00641)						347.0	283.0	305.0					3																	49397732		2203	4300	6503	SO:0001583	missense	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49397732T>A	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.492A>T	3.37:g.49397732T>A	ENSP00000400175:p.Lys164Asn					RHOA_ENST00000454011.2_3'UTR|RHOA_ENST00000422781.1_3'UTR	p.K164N	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	5	876	-			164					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.492A>T	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.313482	0.40996	.	.	ENSG00000067560	ENST00000418115	T	0.68181	-0.31	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	N	0.01624	-0.795	0.80722	D	1	B	0.13594	0.008	B	0.23150	0.044	T	0.40515	-0.9559	10	0.26408	T	0.33	.	15.3932	0.74767	0.0:0.0:0.0:1.0	.	164	P61586	RHOA_HUMAN	N	164	ENSP00000400175:K164N	ENSP00000400175:K164N	K	-	3	2	RHOA	49372736	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.764000	0.68826	2.308000	0.77769	0.533000	0.62120	AAA		0.463	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		56	71	0	0	0	1	0	56	71				
OPCML	4978	broad.mit.edu	37	11	132527066	132527066	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:132527066C>G	ENST00000331898.7	-	2	894	c.316G>C	c.(316-318)Gat>Cat	p.D106H	OPCML_ENST00000374778.4_Missense_Mutation_p.D65H|OPCML_ENST00000541867.1_Missense_Mutation_p.D106H|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.D99H	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	106	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCATACACATCCACATTTTGG	0.502																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(316-318)Gat>Cat		opioid binding protein/cell adhesion molecule-like							251.0	192.0	212.0					11																	132527066		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132527066C>G	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.316G>C	11.37:g.132527066C>G	ENSP00000330862:p.Asp106His					OPCML_ENST00000374778.4_Missense_Mutation_p.D65H|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.D106H|OPCML_ENST00000524381.1_Missense_Mutation_p.D99H	p.D106H	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	2	894	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	106			Ig-like C2-type 1.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.316G>C	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284064	0.80803	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.83	5.83	0.93111	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.112860	0.64402	D	0.000012	T	0.56381	0.1981	M	0.64170	1.965	0.50313	D	0.999863	D;D;D;D	0.89917	0.997;1.0;0.994;0.994	D;D;D;D	0.80764	0.994;0.994;0.989;0.989	T	0.55598	-0.8116	10	0.87932	D	0	-17.7706	20.1047	0.97888	0.0:1.0:0.0:0.0	.	106;99;106;106	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	H	106;99;65;73;106	ENSP00000330862:D106H;ENSP00000434750:D99H;ENSP00000363910:D65H;ENSP00000445496:D106H	ENSP00000330862:D106H	D	-	1	0	OPCML	132032276	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.827000	0.55745	2.762000	0.94881	0.655000	0.94253	GAT		0.502	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		15	44	0	0	0	1	0	15	44				
TRAV35	28647	broad.mit.edu	37	14	22690118	22690118	+	RNA	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:22690118C>T	ENST00000390462.1	+	0	77									T cell receptor alpha variable 35																		AATCAGAGTCCTCAATCTATG	0.428																																						ENST00000390462.1																			0																				62.0	63.0	63.0					14																	22690118		1898	4128	6026			28647							g.chr14:22690118C>T	AE000660		14q11.2	2012-02-07			ENSG00000211814	ENSG00000211814		"""T cell receptors / TRA locus"""	12134	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV25S1, TCRAV35S1			OTTHUMG00000170665		14.37:g.22690118C>T														0	77	+									RNA	SNP	ENST00000390462.1	37																																																																																						0.428	TRAV35-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409913.1	NG_001332		18	39	0	0	0	1	0	18	39				
ACADVL	37	broad.mit.edu	37	17	7125377	7125377	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:7125377C>G	ENST00000356839.5	+	8	908	c.729C>G	c.(727-729)ctC>ctG	p.L243L	DLG4_ENST00000399510.2_5'Flank|MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000543245.2_Silent_p.L266L|ACADVL_ENST00000350303.5_Silent_p.L221L	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	243	Catalytic.		L -> R (in ACADVLD).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						ACTATACCCTCAATGGAAGCA	0.592																																						ENST00000356839.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						c.(727-729)ctC>ctG		acyl-CoA dehydrogenase, very long chain							108.0	108.0	108.0					17																	7125377		2203	4300	6503	SO:0001819	synonymous_variant	37				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity	g.chr17:7125377C>G	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.729C>G	17.37:g.7125377C>G						ACADVL_ENST00000543245.2_Silent_p.L266L|ACADVL_ENST00000350303.5_Silent_p.L221L	p.L243L	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN			8	908	+			243		L -> R (in ACADVLD).	Catalytic.		B4DEB6|F5H2A9|O76056|Q8WUL0	Silent	SNP	ENST00000356839.5	37	c.729C>G	CCDS11090.1																																																																																				0.592	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		6	89	0	0	0	1	0	6	89				
HMGN5	79366	broad.mit.edu	37	X	80374256	80374256	+	Silent	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:80374256T>C	ENST00000358130.2	-	4	376	c.48A>G	c.(46-48)ccA>ccG	p.P16P	HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	16					chromatin modification (GO:0016568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						ATCTTCTCTTTGGCTATAAGT	0.289																																						ENST00000358130.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						c.(46-48)ccA>ccG		high mobility group nucleosome binding domain 5							37.0	34.0	35.0					X																	80374256		2197	4284	6481	SO:0001819	synonymous_variant	79366				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleolus	chromatin binding|DNA binding	g.chrX:80374256T>C	AF250329	CCDS14448.1	Xq13.3	2011-07-01	2011-04-05	2009-09-15	ENSG00000198157	ENSG00000198157		"""High-mobility group / Canonical"""	8013	protein-coding gene	gene with protein product		300385	"""nucleosomal binding protein 1"", ""high-mobility group nucleosome binding domain 5"""	NSBP1		11161810, 19748358	Standard	NM_030763		Approved		uc004eee.1	P82970	OTTHUMG00000021911	ENST00000358130.2:c.48A>G	X.37:g.80374256T>C						HMGN5_ENST00000491275.1_5'UTR	p.P16P	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN			4	376	-			16					Q5JSL1	Silent	SNP	ENST00000358130.2	37	c.48A>G	CCDS14448.1																																																																																				0.289	HMGN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057354.1	NM_030763		6	14	0	0	0	1	0	6	14				
ATP6V0A1	535	broad.mit.edu	37	17	40629736	40629736	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:40629736G>C	ENST00000343619.4	+	6	605	c.482G>C	c.(481-483)gGa>gCa	p.G161A	ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.G118A|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.G118A|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.G168A|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.G161A|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.G161A	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	161					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AGTGAGATGGGAAGAGGCACT	0.468																																						ENST00000343619.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(481-483)gGa>gCa		ATPase, H+ transporting, lysosomal V0 subunit a1							159.0	132.0	141.0					17																	40629736		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40629736G>C	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.482G>C	17.37:g.40629736G>C	ENSP00000342951:p.Gly161Ala					ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.G161A|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.G168A|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.G118A|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.G161A|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.G118A	p.G161A	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	6	605	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	161					B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.482G>C	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069847	0.36566	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	6.03	6.03	0.97812	.	0.205872	0.50627	D	0.000112	T	0.79100	0.4389	N	0.12663	0.25	0.80722	D	1	B;B;B;P;B	0.37548	0.003;0.009;0.001;0.599;0.125	B;B;B;B;B	0.43508	0.018;0.023;0.006;0.422;0.149	T	0.74500	-0.3645	10	0.14252	T	0.57	-6.1122	20.5752	0.99366	0.0:0.0:1.0:0.0	.	118;118;168;161;161	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	A	161;161;161;168;118	ENSP00000342951:G161A;ENSP00000444676:G161A;ENSP00000377415:G161A;ENSP00000264649:G168A;ENSP00000443991:G118A	ENSP00000264649:G168A	G	+	2	0	ATP6V0A1	37883262	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.686000	0.54685	2.868000	0.98415	0.557000	0.71058	GGA		0.468	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		4	36	0	0	0	1	0	4	36				
PPFIBP2	8495	broad.mit.edu	37	11	7663650	7663650	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:7663650C>G	ENST00000299492.4	+	17	2027	c.1639C>G	c.(1639-1641)Cag>Gag	p.Q547E	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.Q389E|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.Q404E|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.Q435E	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	547					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CTCCAAGGGACAGAAAAGGTA	0.512																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1639-1641)Cag>Gag		PTPRF interacting protein, binding protein 2 (liprin beta 2)							41.0	38.0	39.0					11																	7663650		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7663650C>G	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1639C>G	11.37:g.7663650C>G	ENSP00000299492:p.Gln547Glu					PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.Q404E|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.Q389E|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.Q435E	p.Q547E	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	17	2027	+			547					B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.1639C>G	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309763	0.23821	.	.	ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.27890	2.06;1.64;2.06;1.64	5.9	5.9	0.94986	.	0.242690	0.36034	N	0.002825	T	0.24353	0.0590	L	0.51422	1.61	0.31144	N	0.706262	B;B;B;B;B;B	0.31435	0.036;0.004;0.264;0.103;0.177;0.323	B;B;B;B;B;B	0.29785	0.021;0.003;0.107;0.033;0.049;0.031	T	0.19451	-1.0305	10	0.02654	T	1	-7.5496	12.6855	0.56946	0.1647:0.8353:0.0:0.0	.	435;435;470;389;404;547	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	E	547;389;389;470;435;404	ENSP00000299492:Q547E;ENSP00000436498:Q389E;ENSP00000435469:Q435E;ENSP00000437321:Q404E	ENSP00000299492:Q547E	Q	+	1	0	PPFIBP2	7620226	0.989000	0.36119	1.000000	0.80357	0.987000	0.75469	1.425000	0.34859	2.798000	0.96311	0.650000	0.86243	CAG		0.512	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		6	28	0	0	0	1	0	6	28				
GRM7	2917	broad.mit.edu	37	3	6903556	6903556	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:6903556G>A	ENST00000357716.4	+	1	755	c.481G>A	c.(481-483)Gtc>Atc	p.V161I	GRM7_ENST00000402647.2_Missense_Mutation_p.V161I|GRM7_ENST00000403881.1_Missense_Mutation_p.V161I|GRM7_ENST00000486284.1_Missense_Mutation_p.V161I|GRM7_ENST00000389336.4_Missense_Mutation_p.V161I	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	161					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GGGGAGTTCGGTCTCCATCAT	0.602																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(481-483)Gtc>Atc		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						76.0	81.0	79.0					3																	6903556		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:6903556G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.481G>A	3.37:g.6903556G>A	ENSP00000350348:p.Val161Ile					GRM7_ENST00000389336.4_Missense_Mutation_p.V161I|GRM7_ENST00000403881.1_Missense_Mutation_p.V161I|GRM7_ENST00000357716.4_Missense_Mutation_p.V161I|GRM7_ENST00000402647.2_Missense_Mutation_p.V161I	p.V161I	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			1	755	+			161					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.481G>A	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502121	0.85176	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.23	5.23	0.72850	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000018	D	0.91439	0.7298	M	0.68952	2.095	0.58432	D	0.999991	D;D;P	0.63046	0.99;0.992;0.697	D;D;B	0.74348	0.971;0.983;0.347	D	0.92089	0.5679	10	0.66056	D	0.02	.	17.4424	0.87568	0.0:0.0:1.0:0.0	.	161;161;161	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	I	161	ENSP00000350348:V161I;ENSP00000417536:V161I;ENSP00000373987:V161I;ENSP00000385664:V161I;ENSP00000384585:V161I	ENSP00000350348:V161I	V	+	1	0	GRM7	6878556	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.724000	0.98775	2.444000	0.82710	0.558000	0.71614	GTC		0.602	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		23	33	0	0	0	1	0	23	33				
MINK1	50488	broad.mit.edu	37	17	4797387	4797387	+	Splice_Site	SNP	G	G	A	rs528570871		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:4797387G>A	ENST00000355280.6	+	22	2865	c.2669G>A	c.(2668-2670)cGc>cAc	p.R890H	MINK1_ENST00000453408.3_Splice_Site_p.R870H|MINK1_ENST00000347992.7_Splice_Site_p.R861H	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GTGGTCCAGCGCGTGAGTGAG	0.657													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17049	0.0		0.0	False		,,,				2504	0.0					ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.e22+1		misshapen-like kinase 1							40.0	47.0	45.0					17																	4797387		2095	4215	6310	SO:0001630	splice_region_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4797387G>A	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.2670+1G>A	17.37:g.4797387G>A						MINK1_ENST00000347992.7_Splice_Site_p.R861_splice|MINK1_ENST00000453408.3_Splice_Site_p.R870_splice	p.R890_splice	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			22	2865	+			890			Mediates interaction with RAP2A.			Splice_Site	SNP	ENST00000355280.6	37	c.2670_splice	CCDS45588.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248596	0.95305	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.74526	-0.85;-0.85;-0.85	5.24	5.24	0.73138	.	0.117372	0.53938	D	0.000044	T	0.77046	0.4073	L	0.60455	1.87	0.41378	D	0.987531	D;D;D;D	0.57571	0.98;0.98;0.967;0.98	P;P;B;P	0.48677	0.586;0.586;0.382;0.586	T	0.79848	-0.1630	10	0.59425	D	0.04	.	16.3669	0.83335	0.0:0.0:1.0:0.0	.	853;870;890;861	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	H	890;870;861	ENSP00000347427:R890H;ENSP00000406487:R870H;ENSP00000269296:R861H	ENSP00000269296:R861H	R	+	2	0	MINK1	4738163	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	5.169000	0.64984	2.723000	0.93209	0.655000	0.94253	CGC		0.657	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716	Missense_Mutation	17	25	0	0	0	1	0	17	25				
IGHV4-59	28392	broad.mit.edu	37	14	107083482	107083482	+	RNA	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:107083482C>A	ENST00000455737.1	-	0	161									immunoglobulin heavy variable 4-59																		AGAGACAGTGCAGGTGAGGGA	0.592																																						ENST00000455737.1																			0																				40.0	44.0	42.0					14																	107083482		1843	4081	5924			28392							g.chr14:107083482C>A	L10088		14q32.33	2012-02-08			ENSG00000224373	ENSG00000224373		"""Immunoglobulins / IGH locus"""	5654	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151973		14.37:g.107083482C>A														0	161	-									RNA	SNP	ENST00000455737.1	37																																																																																						0.592	IGHV4-59-002	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324620.1	NG_001019		4	67	1	0	0.014758	1	0.0150519	4	67				
MED13	9969	broad.mit.edu	37	17	60107010	60107010	+	Missense_Mutation	SNP	C	C	G	rs377009813		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:60107010C>G	ENST00000397786.2	-	8	1251	c.1175G>C	c.(1174-1176)aGg>aCg	p.R392T	MED13_ENST00000580896.1_5'Flank	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	392				R -> K (in Ref. 1; AAD22032). {ECO:0000305}.	androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAATACTTCCTCCTAAGATT	0.333																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(1174-1176)aGg>aCg		mediator complex subunit 13							68.0	63.0	64.0					17																	60107010		1817	4070	5887	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60107010C>G	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.1175G>C	17.37:g.60107010C>G	ENSP00000380888:p.Arg392Thr						p.R392T	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			8	1251	-			392	R -> K (in Ref. 1; AAD22032).				B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.1175G>C	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862386	0.51482	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.75589	-0.95	5.42	5.42	0.78866	.	0.047447	0.85682	D	0.000000	T	0.78470	0.4288	M	0.62723	1.935	0.80722	D	1	D	0.57257	0.979	P	0.49999	0.628	T	0.75260	-0.3380	10	0.22706	T	0.39	-2.8949	19.2008	0.93711	0.0:1.0:0.0:0.0	.	392	Q9UHV7	MED13_HUMAN	T	392;391	ENSP00000380888:R392T	ENSP00000262436:R391T	R	-	2	0	MED13	57461792	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.473000	0.81007	2.525000	0.85131	0.563000	0.77884	AGG		0.333	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		3	29	0	0	0	1	0	3	29				
PCDHGA7	56108	broad.mit.edu	37	5	140762548	140762548	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140762548G>C	ENST00000518325.1	+	1	82	c.82G>C	c.(82-84)Gca>Cca	p.A28P	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	28					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGCCTGGGCAGGACGTAT	0.637																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(82-84)Gca>Cca									47.0	56.0	53.0					5																	140762548		1961	4179	6140	SO:0001583	missense	56108							g.chr5:140762548G>C	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.82G>C	5.37:g.140762548G>C	ENSP00000430024:p.Ala28Pro					PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron	p.A28P	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	82	+								B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.82G>C	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	6.584	0.476052	0.12521	.	.	ENSG00000253537	ENST00000518325	T	0.52754	0.65	5.06	2.97	0.34412	.	.	.	.	.	T	0.49541	0.1563	M	0.64170	1.965	0.20489	N	0.999894	B;P	0.47484	0.006;0.896	B;P	0.49799	0.027;0.622	T	0.32508	-0.9904	9	0.34782	T	0.22	.	6.2009	0.20575	0.0971:0.0:0.5245:0.3784	.	28;28	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	P	28	ENSP00000430024:A28P	ENSP00000430024:A28P	A	+	1	0	PCDHGA7	140742732	0.129000	0.22400	0.853000	0.33588	0.023000	0.10783	0.694000	0.25512	1.266000	0.44231	0.655000	0.94253	GCA		0.637	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		22	108	0	0	0	1	0	22	108				
VSIG10	54621	broad.mit.edu	37	12	118517331	118517331	+	Missense_Mutation	SNP	C	C	A	rs376411936		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:118517331C>A	ENST00000359236.5	-	4	1021	c.745G>T	c.(745-747)Ggg>Tgg	p.G249W	VSIG10_ENST00000536905.1_5'Flank	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	249	Ig-like C2-type 3.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GGGTATCCCCCATCCCAGCGA	0.562																																						ENST00000359236.5																			0				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(745-747)Ggg>Tgg		V-set and immunoglobulin domain containing 10							118.0	121.0	120.0					12																	118517331		2036	4194	6230	SO:0001583	missense	54621					integral to membrane		g.chr12:118517331C>A		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.745G>T	12.37:g.118517331C>A	ENSP00000352172:p.Gly249Trp						p.G249W	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN			4	1021	-			249			Ig-like C2-type 3.		Q9NWQ7	Missense_Mutation	SNP	ENST00000359236.5	37	c.745G>T	CCDS44992.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805504	0.90623	.	.	ENSG00000176834	ENST00000359236;ENST00000538357	T;T	0.25414	1.8;1.8	6.14	6.14	0.99180	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47455	D	0.000239	T	0.58864	0.2152	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59979	-0.7352	10	0.87932	D	0	-48.4923	20.8597	0.99761	0.0:1.0:0.0:0.0	.	249	Q8N0Z9	VSI10_HUMAN	W	249;148	ENSP00000352172:G249W;ENSP00000442861:G148W	ENSP00000352172:G249W	G	-	1	0	VSIG10	117001714	0.944000	0.32072	0.950000	0.38849	0.990000	0.78478	3.715000	0.54897	2.937000	0.99478	0.650000	0.86243	GGG		0.562	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086		43	68	1	0	1.47197e-15	1	1.73301e-15	43	68				
SLTM	79811	broad.mit.edu	37	15	59181678	59181678	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:59181678C>G	ENST00000380516.2	-	16	2242	c.2155G>C	c.(2155-2157)Gaa>Caa	p.E719Q	SLTM_ENST00000536328.1_Missense_Mutation_p.E288Q|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	719	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTTCTTGTTCATAACGAAGC	0.408																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2155-2157)Gaa>Caa		SAFB-like, transcription modulator							296.0	243.0	261.0					15																	59181678		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59181678C>G	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2155G>C	15.37:g.59181678C>G	ENSP00000369887:p.Glu719Gln					SLTM_ENST00000536328.1_Missense_Mutation_p.E288Q	p.E719Q	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			16	2242	-			719			Arg/Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.2155G>C	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700382	0.68501	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.27256	1.68	5.62	5.62	0.85841	.	0.000000	0.56097	D	0.000038	T	0.49389	0.1554	L	0.55990	1.75	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.994;0.996	T	0.37911	-0.9685	10	0.52906	T	0.07	.	19.6547	0.95831	0.0:1.0:0.0:0.0	.	719;288	Q9NWH9;A8K5V8	SLTM_HUMAN;.	Q	719;285;288	ENSP00000369887:E719Q	ENSP00000369887:E719Q	E	-	1	0	SLTM	56968970	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.449000	0.80643	2.661000	0.90470	0.655000	0.94253	GAA		0.408	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		15	48	0	0	0	1	0	15	48				
DGKK	139189	broad.mit.edu	37	X	50213567	50213567	+	RNA	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:50213567C>T	ENST00000376025.2	-	0	170							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					gcggcggagccggtggtggtg	0.721																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							9.0	12.0	11.0					X																	50213567		1801	3925	5726			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50213567C>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213567C>T										Q5KSL6	DGKK_HUMAN			0	170	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.721	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		7	31	0	0	0	1	0	7	31				
OPN1MW2	728458	broad.mit.edu	37	X	153496083	153496083	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:153496083G>C	ENST00000369929.4	+	5	871	c.811G>C	c.(811-813)Gtg>Ctg	p.V271L	OPN1MW2_ENST00000488220.1_3'UTR	NM_001048181.2	NP_001041646.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive 2	271					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGCATGGTGGTGGTGATGGT	0.577																																						ENST00000369929.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6						c.(811-813)Gtg>Ctg		opsin 1 (cone pigments), medium-wave-sensitive 2							243.0	160.0	189.0					X																	153496083		2107	3833	5940	SO:0001583	missense	728458							g.chrX:153496083G>C		CCDS35447.1	Xq28	2012-08-08			ENSG00000166160	ENSG00000166160		"""GPCR / Class A : Opsin receptors"""	26952	protein-coding gene	gene with protein product							Standard	NM_001048181		Approved			P04001	OTTHUMG00000024231	ENST00000369929.4:c.811G>C	X.37:g.153496083G>C	ENSP00000358945:p.Val271Leu					OPN1MW2_ENST00000488220.1_3'UTR	p.V271L	NM_001048181.2	NP_001041646.1					5	871	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)								Missense_Mutation	SNP	ENST00000369929.4	37	c.811G>C	CCDS35447.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659728	0.29515	.	.	ENSG00000166160	ENST00000369929	T	0.35605	1.3	2.81	0.976	0.19727	.	0.195595	0.44483	D	0.000444	T	0.44435	0.1293	.	.	.	0.43238	D	0.995142	.	.	.	.	.	.	T	0.32745	-0.9895	7	0.72032	D	0.01	.	8.0472	0.30555	0.1893:0.0:0.8107:0.0	.	.	.	.	L	271	ENSP00000358945:V271L	ENSP00000358945:V271L	V	+	1	0	OPN1MW2	153149277	0.538000	0.26394	0.955000	0.39395	0.661000	0.39034	0.013000	0.13310	-0.079000	0.12707	0.407000	0.27541	GTG		0.577	OPN1MW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061149.2	NM_001048181		4	236	0	0	0	1	0	4	236				
SEMA3E	9723	broad.mit.edu	37	7	83016326	83016326	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:83016326G>T	ENST00000307792.3	-	15	2175	c.1708C>A	c.(1708-1710)Cag>Aag	p.Q570K	SEMA3E_ENST00000427262.1_Missense_Mutation_p.Q510K	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	570					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AAGCACTGCTGAGCTGCATTT	0.353																																						ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(1708-1710)Cag>Aag		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							90.0	76.0	81.0					7																	83016326		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83016326G>T	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1708C>A	7.37:g.83016326G>T	ENSP00000303212:p.Gln570Lys					SEMA3E_ENST00000427262.1_Missense_Mutation_p.Q510K	p.Q570K	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			15	2175	-		Medulloblastoma(109;0.109)	570					B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.1708C>A	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285595	0.59867	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.22134	1.97;1.97	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	L	0.38953	1.18	0.52501	D	0.999957	P	0.47302	0.893	B	0.43331	0.416	T	0.02144	-1.1206	10	0.05959	T	0.93	.	19.6817	0.95967	0.0:0.0:1.0:0.0	.	570	O15041	SEM3E_HUMAN	K	570;510;570	ENSP00000303212:Q570K;ENSP00000405052:Q510K	ENSP00000303212:Q570K	Q	-	1	0	SEMA3E	82854262	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.759000	0.68785	2.653000	0.90120	0.650000	0.86243	CAG		0.353	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		10	17	1	0	7.03913e-09	1	7.82489e-09	10	17				
PES1	23481	broad.mit.edu	37	22	30975190	30975190	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:30975190C>G	ENST00000405677.1	-	15	1981	c.1038G>C	c.(1036-1038)gaG>gaC	p.E346D	PES1_ENST00000402281.1_Missense_Mutation_p.E346D|PES1_ENST00000402284.3_Missense_Mutation_p.E468D|PES1_ENST00000335214.6_Missense_Mutation_p.E480D|PES1_ENST00000354694.7_Missense_Mutation_p.E485D	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						ctgaaccagcctctgcatctt	0.572																																						ENST00000402281.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(1036-1038)gaG>gaC		pescadillo ribosomal biogenesis factor 1							47.0	48.0	48.0					22																	30975190		2203	4300	6503	SO:0001583	missense	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30975190C>G	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.1038G>C	22.37:g.30975190C>G	ENSP00000385654:p.Glu346Asp					PES1_ENST00000405677.1_Missense_Mutation_p.E346D|PES1_ENST00000402284.3_Missense_Mutation_p.E468D|PES1_ENST00000354694.6_Missense_Mutation_p.E485D|PES1_ENST00000335214.6_Missense_Mutation_p.E480D	p.E346D			O00541	PESC_HUMAN			15	2029	-			485			BRCT.|Sufficient for interaction with MAP1B (By similarity).			Missense_Mutation	SNP	ENST00000405677.1	37	c.1038G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.629|5.629	0.300677|0.300677	0.10678|0.10678	.|.	.|.	ENSG00000100029|ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214|ENST00000441668	T;T;T;T;T|.	0.34072|.	1.38;1.38;1.38;1.38;1.38|.	3.73|3.73	1.53|1.53	0.23141|0.23141	.|.	0.647066|.	0.15094|.	N|.	0.280896|.	T|T	0.43299|0.43299	0.1241|0.1241	L|L	0.33245|0.33245	0.995|0.995	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.29301|.	0.155;0.155;0.241;0.155|.	B;B;B;B|.	0.25140|.	0.026;0.043;0.058;0.026|.	T|T	0.12604|0.12604	-1.0541|-1.0541	10|5	0.12766|.	T|.	0.61|.	-13.8869|-13.8869	7.6166|7.6166	0.28160|0.28160	0.0:0.6759:0.0:0.3241|0.0:0.6759:0.0:0.3241	.|.	485;468;480;485|.	B2RDF2;B5MCF9;O00541-2;O00541|.	.;.;.;PESC_HUMAN|.	D|R	485;346;346;468;480|92	ENSP00000346725:E485D;ENSP00000384366:E346D;ENSP00000385654:E346D;ENSP00000384252:E468D;ENSP00000334612:E480D|.	ENSP00000334612:E480D|.	E|G	-|-	3|1	2|0	PES1|PES1	29305190|29305190	0.746000|0.746000	0.28272|0.28272	0.022000|0.022000	0.16811|0.16811	0.590000|0.590000	0.36582|0.36582	0.879000|0.879000	0.28146|0.28146	0.309000|0.309000	0.22966|0.22966	0.563000|0.563000	0.77884|0.77884	GAG|GGC		0.572	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303		7	16	0	0	0	1	0	7	16				
HTR1A	3350	broad.mit.edu	37	5	63256897	63256897	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:63256897C>T	ENST00000323865.3	-	1	883	c.650G>A	c.(649-651)cGc>cAc	p.R217H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	217					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCGGAATATGCGCCCATAGAG	0.587																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(649-651)cGc>cAc		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						92.0	103.0	99.0					5																	63256897		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256897C>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.650G>A	5.37:g.63256897C>T	ENSP00000316244:p.Arg217His					RP11-158J3.2_ENST00000502882.1_RNA	p.R217H	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	883	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	217					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.650G>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336965	0.81801	.	.	ENSG00000178394	ENST00000323865	T	0.39056	1.1	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.197923	0.43919	D	0.000519	T	0.64427	0.2597	M	0.81614	2.55	0.58432	D	0.999999	D	0.89917	1.0	D	0.69824	0.966	T	0.68236	-0.5462	10	0.87932	D	0	.	12.1821	0.54218	0.0:0.9226:0.0:0.0774	.	217	P08908	5HT1A_HUMAN	H	217	ENSP00000316244:R217H	ENSP00000316244:R217H	R	-	2	0	HTR1A	63292653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.091000	0.71406	2.692000	0.91855	0.655000	0.94253	CGC		0.587	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		5	206	0	0	0	1	0	5	206				
ILF2	3608	broad.mit.edu	37	1	153640104	153640104	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:153640104G>C	ENST00000361891.4	-	6	446	c.321C>G	c.(319-321)tcC>tcG	p.S107S	ILF2_ENST00000368681.1_Silent_p.S107S	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	107	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTTTTTATAGGATCCCACCT	0.453																																						ENST00000361891.4																			0				cervix(1)|kidney(1)|lung(4)|skin(1)	7						c.(319-321)tcC>tcG		interleukin enhancer binding factor 2							311.0	290.0	298.0					1																	153640104		2203	4300	6503	SO:0001819	synonymous_variant	3608				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	g.chr1:153640104G>C	U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"""interleukin enhancer binding factor 2, 45kD"", ""interleukin enhancer binding factor 2, 45kDa"""			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.321C>G	1.37:g.153640104G>C						ILF2_ENST00000368681.1_Silent_p.S107S	p.S107S	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	446	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		107			DZF.		A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Silent	SNP	ENST00000361891.4	37	c.321C>G	CCDS1050.1																																																																																				0.453	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1	NM_004515		29	218	0	0	0	1	0	29	218				
EXOC2	55770	broad.mit.edu	37	6	633040	633040	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:633040G>C	ENST00000230449.4	-	3	331	c.196C>G	c.(196-198)Caa>Gaa	p.Q66E	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	66	IPT/TIG.				cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTTTTGGCTTGTCCCACTCGA	0.428																																						ENST00000230449.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(196-198)Caa>Gaa		exocyst complex component 2							158.0	133.0	142.0					6																	633040		2203	4300	6503	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:633040G>C	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.196C>G	6.37:g.633040G>C	ENSP00000230449:p.Gln66Glu					EXOC2_ENST00000448181.3_Intron	p.Q66E	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	3	331	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	66			IPT/TIG.		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.196C>G	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308715	0.60305	.	.	ENSG00000112685	ENST00000230449;ENST00000443083	T;T	0.75704	-0.96;-0.96	5.55	5.55	0.83447	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.051290	0.85682	D	0.000000	T	0.48804	0.1520	N	0.11064	0.09	0.80722	D	1	B	0.26775	0.159	B	0.29524	0.103	T	0.51276	-0.8726	10	0.38643	T	0.18	-9.5352	19.5025	0.95103	0.0:0.0:1.0:0.0	.	66	Q96KP1	EXOC2_HUMAN	E	66	ENSP00000230449:Q66E;ENSP00000406400:Q66E	ENSP00000230449:Q66E	Q	-	1	0	EXOC2	578040	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.471000	0.97696	2.605000	0.88082	0.655000	0.94253	CAA		0.428	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		13	59	0	0	0	1	0	13	59				
MUSTN1	389125	broad.mit.edu	37	3	52867391	52867391	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:52867391C>T	ENST00000446157.2	-	3	468	c.198G>A	c.(196-198)gaG>gaA	p.E66E	ITIH4_ENST00000346281.5_5'Flank|RP5-966M1.6_ENST00000468472.1_Intron|ITIH4_ENST00000434759.3_5'Flank|ITIH4_ENST00000485816.1_5'Flank|ITIH4_ENST00000406595.1_5'Flank|RP5-966M1.6_ENST00000513520.1_Intron|ITIH4_ENST00000266041.4_5'Flank|MUSTN1_ENST00000486659.1_Silent_p.E71E|TMEM110-MUSTN1_ENST00000504329.1_Silent_p.E356E	NM_205853.3	NP_995325	Q8IVN3	MSTN1_HUMAN	musculoskeletal, embryonic nuclear protein 1	66						nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(193;6.56e-05)|Kidney(197;0.000586)|KIRC - Kidney renal clear cell carcinoma(197;0.000755)|OV - Ovarian serous cystadenocarcinoma(275;0.0471)		CAAAGACAGTCTCGGTACCTG	0.632																																						ENST00000504329.1																			0											c.(1066-1068)gaG>gaA									63.0	69.0	67.0					3																	52867391		2000	4153	6153	SO:0001819	synonymous_variant	100526772							g.chr3:52867391C>T		CCDS46846.1	3p21.31	2004-03-10				ENSG00000272573			22144	protein-coding gene	gene with protein product							Standard	NM_205853		Approved	Mustang		Q8IVN3		ENST00000446157.2:c.198G>A	3.37:g.52867391C>T						MUSTN1_ENST00000486659.1_Silent_p.E71E|MUSTN1_ENST00000446157.2_Silent_p.E66E	p.E356E	NM_001198974.2	NP_001185903.2					10	1179	-									Silent	SNP	ENST00000446157.2	37	c.1068G>A	CCDS46846.1																																																																																				0.632	MUSTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352933.2	XM_371644		16	37	0	0	0	1	0	16	37				
DNAH9	1770	broad.mit.edu	37	17	11738100	11738100	+	Missense_Mutation	SNP	A	A	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:11738100A>T	ENST00000262442.4	+	49	9460	c.9392A>T	c.(9391-9393)aAg>aTg	p.K3131M	DNAH9_ENST00000454412.2_Missense_Mutation_p.K3131M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3131	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGGAGCAGAAGGTGGCCGTC	0.527																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(9391-9393)aAg>aTg		dynein, axonemal, heavy chain 9							152.0	109.0	124.0					17																	11738100		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11738100A>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9392A>T	17.37:g.11738100A>T	ENSP00000262442:p.Lys3131Met					DNAH9_ENST00000454412.2_Missense_Mutation_p.K3131M	p.K3131M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	49	9460	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3131			Stalk (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9392A>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.747490	0.69533	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.80653	-1.4;-1.4	5.17	2.84	0.33178	Dynein heavy chain, coiled coil stalk (1);	0.452476	0.24027	N	0.042232	D	0.90466	0.7014	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.89092	0.3483	10	0.87932	D	0	.	8.1628	0.31209	0.8179:0.0:0.1821:0.0	.	3131	Q9NYC9	DYH9_HUMAN	M	3131;3131;1713	ENSP00000262442:K3131M;ENSP00000414874:K3131M	ENSP00000262442:K3131M	K	+	2	0	DNAH9	11678825	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.959000	0.56744	0.398000	0.25338	-0.408000	0.06270	AAG		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		13	17	0	0	0	1	0	13	17				
CD300LG	146894	broad.mit.edu	37	17	41939211	41939211	+	Missense_Mutation	SNP	G	G	T	rs144363642	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:41939211G>T	ENST00000317310.4	+	7	972	c.931G>T	c.(931-933)Gtg>Ttg	p.V311L		NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	311					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TGAGGGGGACGTGATCTCGAT	0.612																																						ENST00000317310.4																			0				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19						c.(931-933)Gtg>Ttg		CD300 molecule-like family member g							50.0	46.0	47.0					17																	41939211		2203	4300	6503	SO:0001583	missense	146894					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	g.chr17:41939211G>T	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.931G>T	17.37:g.41939211G>T	ENSP00000321005:p.Val311Leu						p.V311L	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	7	972	+		Breast(137;0.0199)	311					B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP	ENST00000317310.4	37	c.931G>T	CCDS11470.1	.	.	.	.	.	.	.	.	.	.	G	8.398	0.841202	0.16891	.	.	ENSG00000161649	ENST00000317310	T	0.06294	3.32	3.96	-6.98	0.01611	.	2.602770	0.01239	N	0.008564	T	0.02649	0.0080	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39502	-0.9611	10	0.48119	T	0.1	.	3.3265	0.07068	0.1656:0.1255:0.4615:0.2475	.	311	Q6UXG3	CLM9_HUMAN	L	311	ENSP00000321005:V311L	ENSP00000321005:V311L	V	+	1	0	CD300LG	39294737	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.367000	0.00495	-1.768000	0.01298	-1.885000	0.00541	GTG		0.612	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		6	9	1	0	0.0215528	1	0.0218886	6	9				
ZNF645	158506	broad.mit.edu	37	X	22291390	22291390	+	Silent	SNP	G	G	C	rs148712606		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:22291390G>C	ENST00000323684.1	+	1	326	c.282G>C	c.(280-282)ccG>ccC	p.P94P		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	94					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P94P(1)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AAGTATGTCCGCGCTGTCGTT	0.403																																						ENST00000323684.1																			1	Substitution - coding silent(1)	p.P94P(1)	large_intestine(1)	cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(280-282)ccG>ccC		zinc finger protein 645							76.0	65.0	69.0					X																	22291390		2203	4300	6503	SO:0001819	synonymous_variant	158506					intracellular	zinc ion binding	g.chrX:22291390G>C	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.282G>C	X.37:g.22291390G>C							p.P94P	NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN			1	326	+			94					A0AV29|A0AV31|E3SBK4|Q6DJY9	Silent	SNP	ENST00000323684.1	37	c.282G>C	CCDS14205.1																																																																																				0.403	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		12	91	0	0	0	1	0	12	91				
ADRBK1	156	broad.mit.edu	37	11	67047151	67047151	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:67047151G>C	ENST00000308595.5	+	5	711	c.421G>C	c.(421-423)Gtg>Ctg	p.V141L	ADRBK1_ENST00000526285.1_Missense_Mutation_p.V141L	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	141	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GAAGAAGCAGGTGCCTCCGGA	0.622																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(421-423)Gtg>Ctg		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						63.0	63.0	63.0					11																	67047151		2200	4295	6495	SO:0001583	missense	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67047151G>C	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.421G>C	11.37:g.67047151G>C	ENSP00000312262:p.Val141Leu					ADRBK1_ENST00000526285.1_Missense_Mutation_p.V141L	p.V141L	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		5	711	+			141			N-terminal.|RGS.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.421G>C	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.301820	0.60195	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.02280	4.36;4.36	5.38	5.38	0.77491	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.51477	D	0.000088	T	0.03608	0.0103	L	0.46157	1.445	0.58432	D	0.999996	B;B	0.17667	0.023;0.004	B;B	0.16722	0.016;0.01	T	0.53265	-0.8463	10	0.24483	T	0.36	-12.6141	17.695	0.88278	0.0:0.0:1.0:0.0	.	141;141	P25098;E9PRV7	ARBK1_HUMAN;.	L	141	ENSP00000312262:V141L;ENSP00000434126:V141L	ENSP00000312262:V141L	V	+	1	0	ADRBK1	66803727	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.774000	0.75012	2.688000	0.91661	0.655000	0.94253	GTG		0.622	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		3	46	0	0	0	1	0	3	46				
CLRN2	645104	broad.mit.edu	37	4	17524557	17524557	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:17524557C>G	ENST00000511148.2	+	2	426	c.324C>G	c.(322-324)gcC>gcG	p.A108A		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	108						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						TCTTCCTGGCCTTGGCCCTGG	0.567																																						ENST00000511148.2																			0				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(322-324)gcC>gcG		clarin 2							116.0	123.0	120.0					4																	17524557		2127	4241	6368	SO:0001819	synonymous_variant	645104					integral to membrane		g.chr4:17524557C>G		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.324C>G	4.37:g.17524557C>G							p.A108A	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN			2	426	+			108						Silent	SNP	ENST00000511148.2	37	c.324C>G	CCDS47032.1																																																																																				0.567	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827		9	100	0	0	0	1	0	9	100				
NPAP1	23742	broad.mit.edu	37	15	24921554	24921554	+	Silent	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:24921554T>A	ENST00000329468.2	+	1	1014	c.540T>A	c.(538-540)ctT>ctA	p.L180L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	180					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GGACCCCCCTTAGCAGCGGAG	0.607																																						ENST00000329468.2																			0											c.(538-540)ctT>ctA		nuclear pore associated protein 1							47.0	39.0	42.0					15																	24921554		2203	4300	6503	SO:0001819	synonymous_variant	23742							g.chr15:24921554T>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.540T>A	15.37:g.24921554T>A							p.L180L	NM_018958.2	NP_061831.2					1	1014	+									Silent	SNP	ENST00000329468.2	37	c.540T>A	CCDS10015.1																																																																																				0.607	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		18	32	0	0	0	1	0	18	32				
SNX12	29934	broad.mit.edu	37	X	70281697	70281697	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:70281697T>C	ENST00000374274.3	-	3	498	c.382A>G	c.(382-384)Aac>Gac	p.N128D	SNX12_ENST00000276105.3_Missense_Mutation_p.N124D|SNX12_ENST00000465030.1_Intron	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	128	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|negative regulation of early endosome to late endosome transport (GO:2000642)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of protein transport (GO:0051224)|regulation of endocytosis (GO:0030100)	early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					GCTTACTTGTTAATAAACTGC	0.438																																						ENST00000374274.3																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8						c.(382-384)Aac>Gac		sorting nexin 12							46.0	43.0	44.0					X																	70281697		2203	4300	6503	SO:0001583	missense	29934				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding	g.chrX:70281697T>C	AF171229	CCDS14405.1, CCDS59169.1	Xq13.1	2008-03-11			ENSG00000147164	ENSG00000147164		"""Sorting nexins"""	14976	protein-coding gene	gene with protein product		300883					Standard	NM_013346		Approved		uc004dyr.2	Q9UMY4	OTTHUMG00000021786	ENST00000374274.3:c.382A>G	X.37:g.70281697T>C	ENSP00000363392:p.Asn128Asp					SNX12_ENST00000465030.1_Intron|SNX12_ENST00000276105.3_Missense_Mutation_p.N124D	p.N128D	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN			3	498	-	Renal(35;0.156)		128			PX.		F8W8K5|Q8WUG9	Missense_Mutation	SNP	ENST00000374274.3	37	c.382A>G	CCDS14405.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.506678	0.64410	.	.	ENSG00000147164	ENST00000374274;ENST00000276105	T;T	0.43688	0.94;0.94	5.17	4.01	0.46588	.	0.090253	0.85682	D	0.000000	T	0.60779	0.2295	M	0.77820	2.39	0.80722	D	1	P	0.51933	0.949	D	0.65874	0.939	T	0.61778	-0.6993	10	0.66056	D	0.02	.	9.1988	0.37244	0.0:0.0854:0.0:0.9146	.	128	Q3SYF1	.	D	128;124	ENSP00000363392:N128D;ENSP00000276105:N124D	ENSP00000276105:N124D	N	-	1	0	SNX12	70198422	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.556000	0.82233	0.797000	0.33971	0.486000	0.48141	AAC		0.438	SNX12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057094.1	NM_013346		17	22	0	0	0	1	0	17	22				
ZNF711	7552	broad.mit.edu	37	X	84520163	84520163	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:84520163G>T	ENST00000373165.3	+	6	1124	c.818G>T	c.(817-819)gGa>gTa	p.G273V	ZNF711_ENST00000542798.1_Missense_Mutation_p.G69V|ZNF711_ENST00000276123.3_Missense_Mutation_p.G273V|ZNF711_ENST00000360700.4_Missense_Mutation_p.G273V|ZNF711_ENST00000395402.1_Missense_Mutation_p.G251V	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	273					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TACACCAGTGGACATTCAGTA	0.388																																						ENST00000360700.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						c.(817-819)gGa>gTa		zinc finger protein 711							84.0	79.0	81.0					X																	84520163		2203	4300	6503	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84520163G>T	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.818G>T	X.37:g.84520163G>T	ENSP00000362260:p.Gly273Val					ZNF711_ENST00000276123.3_Missense_Mutation_p.G273V|ZNF711_ENST00000373165.3_Missense_Mutation_p.G273V|ZNF711_ENST00000542798.1_Missense_Mutation_p.G69V|ZNF711_ENST00000395402.1_Missense_Mutation_p.G251V	p.G273V			Q9Y462	ZN711_HUMAN			6	1704	+			273					B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.818G>T	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187046	0.78789	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	4.92	4.92	0.64577	Transcriptional activator, Zfx / Zfy domain (1);	0.000000	0.39544	U	0.001340	T	0.62490	0.2432	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.97110	1.0;0.929	T	0.63060	-0.6721	10	0.42905	T	0.14	-9.9868	17.3069	0.87197	0.0:0.0:1.0:0.0	.	273;273	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	V	251;273;273;273;69	ENSP00000378798:G251V;ENSP00000362260:G273V;ENSP00000276123:G273V;ENSP00000353922:G273V;ENSP00000442071:G69V	ENSP00000276123:G273V	G	+	2	0	ZNF711	84406819	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	9.222000	0.95196	2.008000	0.58898	0.506000	0.49869	GGA		0.388	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		24	36	1	0	4.16121e-05	1	4.38763e-05	24	36				
DLC1	10395	broad.mit.edu	37	8	12956984	12956984	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:12956984C>A	ENST00000276297.4	-	9	3271	c.2862G>T	c.(2860-2862)gtG>gtT	p.V954V	DLC1_ENST00000520226.1_Silent_p.V443V|DLC1_ENST00000358919.2_Silent_p.V517V|DLC1_ENST00000512044.2_Silent_p.V551V	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	954					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGTCGTTGTCCACATCCAGGT	0.572																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2860-2862)gtG>gtT		deleted in liver cancer 1							101.0	96.0	98.0					8																	12956984		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12956984C>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2862G>T	8.37:g.12956984C>A						DLC1_ENST00000512044.2_Silent_p.V551V|DLC1_ENST00000520226.1_Silent_p.V443V|DLC1_ENST00000358919.2_Silent_p.V517V	p.V954V	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	3271	-			954					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.2862G>T	CCDS5989.1																																																																																				0.572	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		14	85	1	0	6.31663e-08	1	6.89349e-08	14	85				
LATS2	26524	broad.mit.edu	37	13	21562921	21562921	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:21562921G>C	ENST00000382592.4	-	4	1403	c.998C>G	c.(997-999)tCc>tGc	p.S333C	LATS2_ENST00000542899.1_Missense_Mutation_p.S333C|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTGGCTGCGGGAGCCCAGCAC	0.701																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(997-999)tCc>tGc		large tumor suppressor kinase 2							21.0	24.0	23.0					13																	21562921		2189	4248	6437	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562921G>C	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.998C>G	13.37:g.21562921G>C	ENSP00000372035:p.Ser333Cys					LATS2_ENST00000542899.1_Missense_Mutation_p.S333C	p.S333C	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	1403	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	333						Missense_Mutation	SNP	ENST00000382592.4	37	c.998C>G	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846836	0.32606	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.60171	0.21;0.21	4.99	2.25	0.28309	.	0.479786	0.20699	N	0.087301	T	0.43656	0.1257	L	0.38175	1.15	0.09310	N	0.999995	P	0.38642	0.641	B	0.36959	0.237	T	0.29971	-0.9994	10	0.56958	D	0.05	.	7.784	0.29080	0.1407:0.2476:0.6117:0.0	.	333	Q9NRM7	LATS2_HUMAN	C	333	ENSP00000372035:S333C;ENSP00000441817:S333C	ENSP00000372035:S333C	S	-	2	0	LATS2	20460921	1.000000	0.71417	0.000000	0.03702	0.687000	0.40016	3.906000	0.56340	0.264000	0.21851	0.485000	0.47835	TCC		0.701	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			3	62	0	0	0	1	0	3	62				
FAM208B	54906	broad.mit.edu	37	10	5791144	5791144	+	Silent	SNP	G	G	C	rs548180605		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:5791144G>C	ENST00000328090.5	+	15	6385	c.5760G>C	c.(5758-5760)ggG>ggC	p.G1920G		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1920																	ATCTCCACGGGATCCTCAGGA	0.527																																						ENST00000328090.5																			0											c.(5758-5760)ggG>ggC		family with sequence similarity 208, member B							38.0	40.0	39.0					10																	5791144		1991	4162	6153	SO:0001819	synonymous_variant	54906							g.chr10:5791144G>C	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5760G>C	10.37:g.5791144G>C							p.G1920G	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	6385	+			1920					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.5760G>C	CCDS41485.1																																																																																				0.527	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		5	31	0	0	0	1	0	5	31				
POLR2A	5430	broad.mit.edu	37	17	7401407	7401407	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:7401407C>G	ENST00000322644.6	+	8	1612	c.1213C>G	c.(1213-1215)Cta>Gta	p.L405V	POLR2A_ENST00000572844.1_Missense_Mutation_p.L405V	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	405					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACTTCAAGAACTAGTGCGCAG	0.512																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(1213-1215)Cta>Gta		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							100.0	89.0	93.0					17																	7401407		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7401407C>G			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.1213C>G	17.37:g.7401407C>G	ENSP00000314949:p.Leu405Val					POLR2A_ENST00000572844.1_Missense_Mutation_p.L405V	p.L405V	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			8	1612	+		Prostate(122;0.173)	405					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.1213C>G	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367745	0.61513	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.70631	-0.5	5.6	1.38	0.22167	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.000000	0.64402	D	0.000005	D	0.87521	0.6198	H	0.97852	4.09	0.46901	D	0.999247	D;D	0.69078	0.997;0.99	D;D	0.73380	0.98;0.958	D	0.86056	0.1529	10	0.87932	D	0	-6.5971	8.4432	0.32826	0.0:0.5128:0.0:0.4872	.	405;405	P24928;Q6NX41	RPB1_HUMAN;.	V	361;405	ENSP00000314949:L405V	ENSP00000314949:L405V	L	+	1	2	SLC35G6	7342131	0.991000	0.36638	0.989000	0.46669	0.975000	0.68041	0.690000	0.25451	0.051000	0.15978	-0.244000	0.11960	CTA		0.512	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		6	83	0	0	0	1	0	6	83				
MUC5B	727897	broad.mit.edu	37	11	1272374	1272374	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:1272374C>G	ENST00000529681.1	+	31	14322	c.14264C>G	c.(14263-14265)tCc>tGc	p.S4755C	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.S4758C	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4755	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCATCCCCTCCTCCACCCTG	0.577																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(14272-14274)tCc>tGc		mucin 5B, oligomeric mucus/gel-forming							171.0	194.0	186.0					11																	1272374		2168	4251	6419	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272374C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14264C>G	11.37:g.1272374C>G	ENSP00000436812:p.Ser4755Cys					MUC5B_ENST00000529681.1_Missense_Mutation_p.S4755C	p.S4758C			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	14331	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4755			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14273C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	2.753	-0.259548	0.05791	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000535652	T;T	0.18657	2.2;2.39	1.83	-3.67	0.04476	.	.	.	.	.	T	0.21801	0.0525	M	0.68952	2.095	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.38394	-0.9663	9	0.87932	D	0	.	10.3654	0.44021	0.0:0.7053:0.2947:0.0	.	4758	E9PBJ0	.	C	4755;4758;4699;528	ENSP00000436812:S4755C;ENSP00000415793:S4758C	ENSP00000343037:S4699C	S	+	2	0	MUC5B	1228950	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	-0.736000	0.04882	-0.701000	0.05063	0.194000	0.17425	TCC		0.577	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		28	92	0	0	0	1	0	28	92				
ATP9A	10079	broad.mit.edu	37	20	50235319	50235319	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:50235319C>G	ENST00000338821.5	-	21	2496	c.2232G>C	c.(2230-2232)gaG>gaC	p.E744D	ATP9A_ENST00000402822.1_Missense_Mutation_p.E623D|ATP9A_ENST00000311637.5_Missense_Mutation_p.E608D	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	744					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCTCCATGAACTCGTACTCAT	0.647																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2230-2232)gaG>gaC		ATPase, class II, type 9A							36.0	38.0	37.0					20																	50235319		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50235319C>G	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2232G>C	20.37:g.50235319C>G	ENSP00000342481:p.Glu744Asp					ATP9A_ENST00000402822.1_Missense_Mutation_p.E623D|ATP9A_ENST00000311637.5_Missense_Mutation_p.E608D	p.E744D	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			21	2496	-			744					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.2232G>C	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158559	0.78114	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.62941	-0.01;-0.01;-0.01	5.35	5.35	0.76521	HAD-like domain (1);	.	.	.	.	T	0.73321	0.3572	L	0.53671	1.685	0.80722	D	1	D;P	0.56035	0.974;0.739	D;P	0.67725	0.953;0.614	T	0.74615	-0.3606	9	0.59425	D	0.04	-27.7164	13.3791	0.60757	0.0:0.9244:0.0:0.0756	.	623;744	O75110-2;O75110	.;ATP9A_HUMAN	D	608;744;623	ENSP00000309086:E608D;ENSP00000342481:E744D;ENSP00000385875:E623D	ENSP00000309086:E608D	E	-	3	2	ATP9A	49668726	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.994000	0.40757	2.493000	0.84123	0.655000	0.94253	GAG		0.647	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		10	49	0	0	0	1	0	10	49				
MAMSTR	284358	broad.mit.edu	37	19	49217150	49217150	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:49217150C>G	ENST00000318083.6	-	8	939	c.876G>C	c.(874-876)gaG>gaC	p.E292D	MAMSTR_ENST00000594582.1_Missense_Mutation_p.E124D|MAMSTR_ENST00000356751.4_Missense_Mutation_p.E189D|MAMSTR_ENST00000419611.1_Missense_Mutation_p.E189D|MAMSTR_ENST00000377367.3_Missense_Mutation_p.E124D			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	292	Pro-rich.|Transcription activation. {ECO:0000250}.				positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(1)|ovary(1)	2						GCAGCTCCTCCTCCAGAGTCA	0.672																																						ENST00000318083.6																			0				endometrium(1)|ovary(1)	2						c.(874-876)gaG>gaC		MEF2 activating motif and SAP domain containing transcriptional regulator							58.0	62.0	61.0					19																	49217150		2203	4300	6503	SO:0001583	missense	284358				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chr19:49217150C>G	AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"""MEF2-activating SAP transcriptional regulator"""	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.876G>C	19.37:g.49217150C>G	ENSP00000324175:p.Glu292Asp					MAMSTR_ENST00000419611.1_Missense_Mutation_p.E189D|MAMSTR_ENST00000356751.4_Missense_Mutation_p.E189D|MAMSTR_ENST00000594582.1_Missense_Mutation_p.E124D|MAMSTR_ENST00000377367.3_Missense_Mutation_p.E124D	p.E292D			Q6ZN01	MASTR_HUMAN			8	939	-			292			Pro-rich.|Transcription activation (By similarity).		B7ZKX4|Q3KQU9|Q8N9Y3	Missense_Mutation	SNP	ENST00000318083.6	37	c.876G>C	CCDS46137.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623630	0.66901	.	.	ENSG00000176909	ENST00000318083;ENST00000419611;ENST00000377367;ENST00000356751	.	.	.	4.92	1.62	0.23740	.	0.274216	0.26955	N	0.021660	T	0.55257	0.1909	M	0.71581	2.175	0.27681	N	0.946441	D	0.76494	0.999	D	0.76071	0.987	T	0.40757	-0.9546	9	0.42905	T	0.14	-21.3483	6.1514	0.20314	0.0:0.6786:0.0:0.3214	.	292	Q6ZN01	MASTR_HUMAN	D	292;189;124;189	.	ENSP00000324175:E292D	E	-	3	2	MAMSTR	53908962	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.752000	0.26362	0.739000	0.32628	0.549000	0.68633	GAG		0.672	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466179.1	NM_182574		10	103	0	0	0	1	0	10	103				
DNHD1	144132	broad.mit.edu	37	11	6592025	6592025	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:6592025C>G	ENST00000527990.2	+	40	13283	c.13283C>G	c.(13282-13284)tCt>tGt	p.S4428C	DNHD1_ENST00000254579.6_Missense_Mutation_p.S4428C			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4428					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTTCCTGAGTCTCGAAGAGGC	0.632																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(13282-13284)tCt>tGt		dynein heavy chain domain 1							25.0	30.0	28.0					11																	6592025		2087	4207	6294	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6592025C>G	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13283C>G	11.37:g.6592025C>G	ENSP00000436180:p.Ser4428Cys					DNHD1_ENST00000527990.2_Missense_Mutation_p.S4428C	p.S4428C	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	42	13847	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4428					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.13283C>G	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108412	0.37242	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.29655	1.56;1.56	4.78	1.62	0.23740	Dynein heavy chain (1);	1.097160	0.07008	N	0.824551	T	0.19565	0.0470	N	0.08118	0	0.09310	N	1	B;B;B	0.29766	0.256;0.256;0.256	B;B;B	0.38616	0.202;0.202;0.277	T	0.39840	-0.9594	10	0.66056	D	0.02	1.4957	3.556	0.07865	0.0:0.5263:0.2103:0.2634	.	3516;480;4428	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	C	4428;4428;696	ENSP00000254579:S4428C;ENSP00000436180:S4428C	ENSP00000254579:S4428C	S	+	2	0	DNHD1	6548601	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.870000	0.28010	0.163000	0.19507	0.563000	0.77884	TCT		0.632	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		4	16	0	0	0	1	0	4	16				
COL28A1	340267	broad.mit.edu	37	7	7571410	7571410	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:7571410C>A	ENST00000399429.3	-	3	390	c.250G>T	c.(250-252)Ggt>Tgt	p.G84C		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	84	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AAGGAGCGACCAGGAGTCAAT	0.428																																						ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(250-252)Ggt>Tgt		collagen, type XXVIII, alpha 1							71.0	70.0	71.0					7																	7571410		1874	4108	5982	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7571410C>A	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.250G>T	7.37:g.7571410C>A	ENSP00000382356:p.Gly84Cys						p.G84C	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	3	390	-		Ovarian(82;0.0789)	84			VWFA 1.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.250G>T	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	8.541	0.873244	0.17322	.	.	ENSG00000215018	ENST00000399429;ENST00000399419;ENST00000448652	D	0.88896	-2.44	4.2	0.122	0.14702	von Willebrand factor, type A (3);	1.251810	0.06175	U	0.678328	D	0.86381	0.5919	L	0.52573	1.65	0.09310	N	1	P	0.49696	0.927	P	0.47786	0.557	T	0.74047	-0.3790	10	0.56958	D	0.05	0.968	2.2058	0.03935	0.1357:0.4976:0.1321:0.2346	.	84	Q2UY09	COSA1_HUMAN	C	84	ENSP00000382356:G84C	ENSP00000382347:G84C	G	-	1	0	COL28A1	7537935	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	0.042000	0.13949	-0.082000	0.12640	-0.150000	0.13652	GGT		0.428	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		26	40	1	0	1.74197e-06	1	1.86696e-06	26	40				
NXPH1	30010	broad.mit.edu	37	7	8791094	8791094	+	Missense_Mutation	SNP	A	A	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:8791094A>T	ENST00000405863.1	+	3	1422	c.511A>T	c.(511-513)Aca>Tca	p.T171S	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.T54S	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	171	III.					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GGTACCCCCTACAAAAATCGT	0.393																																						ENST00000405863.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17						c.(511-513)Aca>Tca		neurexophilin 1							67.0	67.0	67.0					7																	8791094		1866	4104	5970	SO:0001583	missense	30010					extracellular region		g.chr7:8791094A>T	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.511A>T	7.37:g.8791094A>T	ENSP00000384551:p.Thr171Ser					NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.T54S	p.T171S	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	1422	+		Ovarian(82;0.0628)	171			III.		Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	c.511A>T	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	A	5.269	0.235035	0.09969	.	.	ENSG00000122584	ENST00000405863;ENST00000417186	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.19005	0.0456	N	0.00885	-1.115	0.80722	D	1	P	0.37688	0.605	B	0.38056	0.264	T	0.42447	-0.9451	9	0.02654	T	1	-8.4681	16.6093	0.84858	1.0:0.0:0.0:0.0	.	171	P58417	NXPH1_HUMAN	S	171;54	.	ENSP00000384551:T171S	T	+	1	0	NXPH1	8757619	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	9.307000	0.96226	2.324000	0.78689	0.533000	0.62120	ACA		0.393	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745		14	26	0	0	0	1	0	14	26				
DUOX1	53905	broad.mit.edu	37	15	45444587	45444587	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:45444587C>G	ENST00000321429.4	+	26	3704	c.3297C>G	c.(3295-3297)taC>taG	p.Y1099*	DUOX1_ENST00000561166.1_Nonsense_Mutation_p.Y745*|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Nonsense_Mutation_p.Y1099*	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1099	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGTTCTCCTACATCTTGCTCA	0.592																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(3295-3297)taC>taG		dual oxidase 1							216.0	158.0	178.0					15																	45444587		2198	4298	6496	SO:0001587	stop_gained	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45444587C>G	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3297C>G	15.37:g.45444587C>G	ENSP00000317997:p.Tyr1099*					DUOX1_ENST00000389037.3_Nonsense_Mutation_p.Y1099*|DUOX1_ENST00000561166.1_Nonsense_Mutation_p.Y745*	p.Y1099*	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	26	3704	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1099			Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Nonsense_Mutation	SNP	ENST00000321429.4	37	c.3297C>G	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	c	42	9.365360	0.99150	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	.	.	.	4.07	2.18	0.27775	.	0.114600	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-21.0976	8.6213	0.33861	0.0:0.8055:0.0:0.1945	.	.	.	.	X	1099	.	ENSP00000317997:Y1099X	Y	+	3	2	DUOX1	43231879	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.156000	0.50708	0.479000	0.27511	-0.755000	0.03482	TAC		0.592	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		15	54	0	0	0	1	0	15	54				
GABRG1	2565	broad.mit.edu	37	4	46099276	46099276	+	Silent	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:46099276T>A	ENST00000295452.4	-	2	362	c.195A>T	c.(193-195)acA>acT	p.T65T		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	65					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCAGAATTTGTGTGATATCTC	0.368																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(193-195)acA>acT		gamma-aminobutyric acid (GABA) A receptor, gamma 1							180.0	178.0	178.0					4																	46099276		2203	4300	6503	SO:0001819	synonymous_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46099276T>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.195A>T	4.37:g.46099276T>A							p.T65T	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	2	362	-			65					Q5H9T8	Silent	SNP	ENST00000295452.4	37	c.195A>T	CCDS3470.1																																																																																				0.368	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		32	79	0	0	0	1	0	32	79				
PLA2R1	22925	broad.mit.edu	37	2	160806213	160806213	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:160806213G>C	ENST00000283243.7	-	25	3821	c.3615C>G	c.(3613-3615)ctC>ctG	p.L1205L	PLA2R1_ENST00000392771.1_Silent_p.L1205L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1205	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AGTCACCAAGGAGGGAGGACT	0.488																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(3613-3615)ctC>ctG		phospholipase A2 receptor 1, 180kDa							89.0	85.0	86.0					2																	160806213		2203	4300	6503	SO:0001819	synonymous_variant	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160806213G>C	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.3615C>G	2.37:g.160806213G>C						PLA2R1_ENST00000392771.1_Silent_p.L1205L	p.L1205L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			25	3821	-			1205			C-type lectin 7.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	c.3615C>G	CCDS33309.1																																																																																				0.488	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			3	48	0	0	0	1	0	3	48				
CDHR5	53841	broad.mit.edu	37	11	621613	621613	+	Missense_Mutation	SNP	C	C	G	rs200327129		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:621613C>G	ENST00000358353.3	-	6	778	c.456G>C	c.(454-456)gaG>gaC	p.E152D	CDHR5_ENST00000529337.1_5'Flank|CDHR5_ENST00000397542.2_Missense_Mutation_p.E152D|CDHR5_ENST00000349570.7_Missense_Mutation_p.E152D			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	152	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TGTCGCGGTCCTCAGCCTGCA	0.637																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(454-456)gaG>gaC		cadherin-related family member 5							157.0	124.0	135.0					11																	621613		2203	4300	6503	SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:621613C>G	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.456G>C	11.37:g.621613C>G	ENSP00000351118:p.Glu152Asp					CDHR5_ENST00000397542.2_Missense_Mutation_p.E152D|CDHR5_ENST00000349570.7_Missense_Mutation_p.E152D	p.E152D			Q9HBB8	CDHR5_HUMAN			6	778	-			152			Cadherin 2.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	c.456G>C	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	c	8.948	0.967508	0.18659	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000326366;ENST00000349570;ENST00000526077;ENST00000534311	T;T;T;T;T	0.46819	1.15;1.15;1.15;0.86;0.87	3.91	-2.41	0.06562	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.20251	0.0487	N	0.08118	0	0.09310	N	1	B;B;B;B	0.22800	0.016;0.075;0.044;0.075	B;B;B;B	0.20955	0.004;0.032;0.02;0.032	T	0.21861	-1.0233	9	0.18276	T	0.48	-4.1042	4.1282	0.10138	0.0:0.2539:0.3455:0.4006	.	152;152;152;152	Q58EZ6;Q9HBB8-4;Q9HBB8-2;Q9HBB8	.;.;.;CDHR5_HUMAN	D	152;152;152;152;121;129	ENSP00000380676:E152D;ENSP00000351118:E152D;ENSP00000345726:E152D;ENSP00000435082:E121D;ENSP00000436295:E129D	ENSP00000326527:E152D	E	-	3	2	CDHR5	611613	0.005000	0.15991	0.003000	0.11579	0.006000	0.05464	-0.346000	0.07760	-0.289000	0.09038	0.486000	0.48141	GAG		0.637	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		4	99	0	0	0	1	0	4	99				
CNTNAP1	8506	broad.mit.edu	37	17	40837111	40837111	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:40837111C>G	ENST00000264638.4	+	4	683	c.466C>G	c.(466-468)Cgc>Ggc	p.R156G	CTD-3193K9.3_ENST00000592440.1_RNA|CCR10_ENST00000591765.1_5'Flank	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	156	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTGGAACCCACGCGGCAAGAT	0.642																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(466-468)Cgc>Ggc		contactin associated protein 1							76.0	69.0	72.0					17																	40837111		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40837111C>G	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.466C>G	17.37:g.40837111C>G	ENSP00000264638:p.Arg156Gly					CTD-3193K9.3_ENST00000592440.1_RNA	p.R156G	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	4	683	+		Breast(137;0.000143)	156			F5/8 type C.			Missense_Mutation	SNP	ENST00000264638.4	37	c.466C>G	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.364219	0.41902	.	.	ENSG00000108797	ENST00000264638	D	0.98060	-4.69	5.52	3.35	0.38373	Concanavalin A-like lectin/glucanase (1);Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.094754	0.45867	D	0.000333	D	0.93210	0.7837	N	0.14661	0.345	0.32536	N	0.534299	B	0.12630	0.006	B	0.11329	0.006	D	0.92183	0.5753	10	0.42905	T	0.14	.	12.972	0.58517	0.4173:0.5827:0.0:0.0	.	156	P78357	CNTP1_HUMAN	G	156	ENSP00000264638:R156G	ENSP00000264638:R156G	R	+	1	0	CNTNAP1	38090637	1.000000	0.71417	0.911000	0.35937	0.964000	0.63967	2.504000	0.45416	1.259000	0.44117	0.561000	0.74099	CGC		0.642	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		4	68	0	0	0	1	0	4	68				
RNF113B	140432	broad.mit.edu	37	13	98829284	98829284	+	Silent	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:98829284G>T	ENST00000267291.6	-	1	235	c.207C>A	c.(205-207)ctC>ctA	p.L69L	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	69							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GCCAGCTGTGGAGGCCCCGGG	0.746																																						ENST00000267291.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(205-207)ctC>ctA		ring finger protein 113B							11.0	12.0	11.0					13																	98829284		2190	4264	6454	SO:0001819	synonymous_variant	140432						nucleic acid binding|zinc ion binding	g.chr13:98829284G>T	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.207C>A	13.37:g.98829284G>T						FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron	p.L69L	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	235	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		69					Q8WWF9|Q96QY9	Silent	SNP	ENST00000267291.6	37	c.207C>A	CCDS9486.1																																																																																				0.746	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		4	17	1	0	0.150653	1	0.151286	4	17				
FMN2	56776	broad.mit.edu	37	1	240256745	240256745	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:240256745C>A	ENST00000319653.9	+	1	1566	c.1336C>A	c.(1336-1338)Cgg>Agg	p.R446R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	446					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GATCAAGAGGCGGCCGGAACC	0.687																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(1336-1338)Cgg>Agg		formin 2							44.0	51.0	49.0					1																	240256745		2196	4295	6491	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256745C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1336C>A	1.37:g.240256745C>A							p.R446R	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1566	+	Ovarian(103;0.127)	all_cancers(173;0.013)	446					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.1336C>A	CCDS31069.2																																																																																				0.687	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		27	54	1	0	1.77063e-15	1	2.07781e-15	27	54				
GCAT	23464	broad.mit.edu	37	22	38211679	38211679	+	Missense_Mutation	SNP	C	C	A	rs142256511		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:38211679C>A	ENST00000248924.6	+	7	880	c.824C>A	c.(823-825)aCg>aAg	p.T275K	GCAT_ENST00000323205.6_Missense_Mutation_p.T301K	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	275					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	GGGGGCTACACGACAGGGCCT	0.662																																						ENST00000323205.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12						c.(901-903)aCg>aAg		glycine C-acetyltransferase	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						47.0	56.0	53.0					22																	38211679		2203	4298	6501	SO:0001583	missense	23464				biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr22:38211679C>A	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.824C>A	22.37:g.38211679C>A	ENSP00000248924:p.Thr275Lys					GCAT_ENST00000248924.6_Missense_Mutation_p.T275K	p.T301K	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN			7	965	+	Melanoma(58;0.045)		275					E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	ENST00000248924.6	37	c.902C>A	CCDS13957.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629294	0.87560	.	.	ENSG00000100116	ENST00000323205;ENST00000248924	D;D	0.90900	-2.75;-2.75	4.57	4.57	0.56435	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96700	0.8923	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.995;0.999	D	0.97972	1.0344	10	0.87932	D	0	-17.5441	17.5477	0.87867	0.0:1.0:0.0:0.0	.	301;275	E2QC23;O75600	.;KBL_HUMAN	K	301;275	ENSP00000371110:T301K;ENSP00000248924:T275K	ENSP00000248924:T275K	T	+	2	0	GCAT	36541625	1.000000	0.71417	0.936000	0.37596	0.965000	0.64279	5.478000	0.66806	2.363000	0.80096	0.561000	0.74099	ACG		0.662	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		6	136	1	0	5.9392e-07	1	6.43264e-07	6	136				
KEAP1	9817	broad.mit.edu	37	19	10602293	10602293	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:10602293C>T	ENST00000171111.5	-	3	1832	c.1285G>A	c.(1285-1287)Ggc>Agc	p.G429S	KEAP1_ENST00000393623.2_Missense_Mutation_p.G429S|KEAP1_ENST00000588024.1_5'Flank|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	429					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	TGGGAGCCGCCGACGGCATAG	0.652																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(1285-1287)Ggc>Agc		kelch-like ECH-associated protein 1							22.0	21.0	21.0					19																	10602293		2203	4297	6500	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602293C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1285G>A	19.37:g.10602293C>T	ENSP00000171111:p.Gly429Ser					KEAP1_ENST00000393623.2_Missense_Mutation_p.G429S	p.G429S	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1832	-			429					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1285G>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000820	0.93227	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.98792	-5.14;-5.14	5.49	5.49	0.81192	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98701	1.0700	10	0.87932	D	0	.	16.8681	0.86034	0.0:1.0:0.0:0.0	.	429	Q14145	KEAP1_HUMAN	S	429	ENSP00000171111:G429S;ENSP00000377245:G429S	ENSP00000171111:G429S	G	-	1	0	KEAP1	10463293	1.000000	0.71417	0.133000	0.22050	0.867000	0.49689	5.869000	0.69613	2.591000	0.87537	0.655000	0.94253	GGC		0.652	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		5	21	0	0	0	1	0	5	21				
PRSS3P2	154754	broad.mit.edu	37	7	142481843	142481843	+	RNA	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:142481843C>G	ENST00000603901.1	+	0	522					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GTAAAGCCTCCTACCCTTTAA	0.512																																						ENST00000603901.1																			0																																																			154754							g.chr7:142481843C>G			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481843C>G								NR_001296.3						0	522	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.512	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		6	42	0	0	0	1	0	6	42				
MBOAT1	154141	broad.mit.edu	37	6	20118762	20118762	+	Missense_Mutation	SNP	A	A	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:20118762A>C	ENST00000324607.7	-	9	1081	c.917T>G	c.(916-918)gTg>gGg	p.V306G	MBOAT1_ENST00000541730.1_Missense_Mutation_p.V157G	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	306					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TGCGTTATTCACTGCATCAGC	0.393																																						ENST00000541730.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20						c.(469-471)gTg>gGg		membrane bound O-acyltransferase domain containing 1							97.0	79.0	85.0					6																	20118762		2203	4300	6503	SO:0001583	missense	154141				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr6:20118762A>C	AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.917T>G	6.37:g.20118762A>C	ENSP00000324944:p.Val306Gly					MBOAT1_ENST00000324607.7_Missense_Mutation_p.V306G	p.V157G			Q6ZNC8	MBOA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)		8	1065	-	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		306					A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	ENST00000324607.7	37	c.470T>G	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.110404	0.77210	.	.	ENSG00000172197	ENST00000541730;ENST00000324607	T;T	0.75260	-0.92;-0.92	6.17	6.17	0.99709	.	0.056133	0.64402	D	0.000001	T	0.73289	0.3568	L	0.39633	1.23	0.80722	D	1	B;D	0.69078	0.317;0.997	B;D	0.67548	0.177;0.952	T	0.69873	-0.5027	10	0.17832	T	0.49	-9.5537	16.8222	0.85835	1.0:0.0:0.0:0.0	.	157;306	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	G	157;306	ENSP00000441568:V157G;ENSP00000324944:V306G	ENSP00000324944:V306G	V	-	2	0	MBOAT1	20226741	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.301000	0.96167	2.371000	0.80710	0.533000	0.62120	GTG		0.393	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1			18	27	0	0	0	1	0	18	27				
EHD1	10938	broad.mit.edu	37	11	64622179	64622179	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:64622179C>G	ENST00000320631.3	-	5	1485	c.1231G>C	c.(1231-1233)Ggc>Cgc	p.G411R	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Missense_Mutation_p.G411R	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	411					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AAGGCGCCGCCCTTGACCACC	0.677																																						ENST00000320631.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1231-1233)Ggc>Cgc		EH-domain containing 1							139.0	127.0	131.0					11																	64622179		2201	4297	6498	SO:0001583	missense	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64622179C>G	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1231G>C	11.37:g.64622179C>G	ENSP00000320516:p.Gly411Arg					EHD1_ENST00000359393.2_Missense_Mutation_p.G411R|EHD1_ENST00000488711.1_5'UTR	p.G411R	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN			5	1485	-			411					O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	c.1231G>C	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606786	0.66558	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421510	T;T;T	0.57595	2.17;2.17;0.39	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.74680	0.3748	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70227	0.968;0.968	T	0.79838	-0.1634	10	0.66056	D	0.02	.	14.8614	0.70384	0.0:1.0:0.0:0.0	.	411;411	B2R5U3;Q9H4M9	.;EHD1_HUMAN	R	411;411;387;275	ENSP00000320516:G411R;ENSP00000352354:G411R;ENSP00000391429:G275R	ENSP00000320516:G411R	G	-	1	0	EHD1	64378755	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	7.576000	0.82467	2.381000	0.81170	0.561000	0.74099	GGC		0.677	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		9	201	0	0	0	1	0	9	201				
NSD1	64324	broad.mit.edu	37	5	176684032	176684032	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:176684032C>T	ENST00000439151.2	+	13	4891	c.4846C>T	c.(4846-4848)Cat>Tat	p.H1616Y	NSD1_ENST00000361032.4_Missense_Mutation_p.H1513Y|NSD1_ENST00000347982.4_Missense_Mutation_p.H1347Y|NSD1_ENST00000354179.4_Missense_Mutation_p.H1347Y	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1616			H -> L (in SOTOS1). {ECO:0000269|PubMed:12464997}.		gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAAGTTTTACCATGAAGAGTG	0.463			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(4846-4848)Cat>Tat		nuclear receptor binding SET domain protein 1							138.0	121.0	127.0					5																	176684032		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176684032C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4846C>T	5.37:g.176684032C>T	ENSP00000395929:p.His1616Tyr	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Missense_Mutation_p.H1347Y|NSD1_ENST00000347982.4_Missense_Mutation_p.H1347Y|NSD1_ENST00000361032.4_Missense_Mutation_p.H1513Y	p.H1616Y	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	13	4891	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1616		H -> L (in SOTOSS).			Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.4846C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922271	0.92319	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33	4.9	4.9	0.64082	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.64402	D	0.000017	D	0.98842	0.9609	M	0.92219	3.285	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.999	D	0.99564	1.0969	10	0.87932	D	0	.	18.9766	0.92740	0.0:1.0:0.0:0.0	.	1347;1513;1616	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	Y	1347;1616;1347;1513	ENSP00000346111:H1347Y;ENSP00000395929:H1616Y;ENSP00000343209:H1347Y;ENSP00000354310:H1513Y	ENSP00000343209:H1347Y	H	+	1	0	NSD1	176616638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.716000	0.84723	2.649000	0.89929	0.650000	0.86243	CAT		0.463	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		23	43	0	0	0	1	0	23	43				
ESR1	2099	broad.mit.edu	37	6	152163838	152163838	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:152163838G>T	ENST00000206249.3	+	2	921	c.559G>T	c.(559-561)Gtg>Ttg	p.V187L	ESR1_ENST00000427531.2_Missense_Mutation_p.V14L|ESR1_ENST00000443427.1_Missense_Mutation_p.V187L|ESR1_ENST00000456483.2_Missense_Mutation_p.V187L|ESR1_ENST00000338799.5_Missense_Mutation_p.V187L|ESR1_ENST00000440973.1_Missense_Mutation_p.V187L|ESR1_ENST00000406599.1_Intron	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	187	Mediates interaction with DNTTIP2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CTACTGTGCAGTGTGCAATGA	0.478																																						ENST00000440973.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(559-561)Gtg>Ttg		estrogen receptor 1	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						141.0	123.0	129.0					6																	152163838		2203	4300	6503	SO:0001583	missense	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152163838G>T	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.559G>T	6.37:g.152163838G>T	ENSP00000206249:p.Val187Leu					ESR1_ENST00000206249.3_Missense_Mutation_p.V187L|ESR1_ENST00000338799.5_Missense_Mutation_p.V187L|ESR1_ENST00000544394.1_Missense_Mutation_p.V14L|ESR1_ENST00000456483.2_Missense_Mutation_p.V187L|ESR1_ENST00000443427.1_Missense_Mutation_p.V187L|ESR1_ENST00000406599.1_Intron	p.V187L	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	4	929	+		Ovarian(120;0.0448)	187			Mediates interaction with DNTTIP2.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	c.559G>T	CCDS5234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.355243|5.355243	0.95854|0.95854	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000427531|ENST00000440973;ENST00000338799;ENST00000456483;ENST00000443427;ENST00000206249;ENST00000347491;ENST00000431590;ENST00000544394	.|D;D;D;D;D;D	.|0.98264	.|-4.83;-4.83;-4.83;-4.83;-4.83;-4.83	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99351|0.99351	0.9772|0.9772	M|M	0.93898|0.93898	3.47|3.47	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.995;1.0;1.0	.|D;D;D	.|0.91635	.|0.986;0.998;0.999	D|D	0.99029|0.99029	1.0820|1.0820	5|10	.|0.87932	.|D	.|0	.|.	20.6525|20.6525	0.99598|0.99598	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|187;187;187	.|A8KAF4;G4XH65;P03372	.|.;.;ESR1_HUMAN	H|L	91|187;187;187;187;187;12;115;14	.|ENSP00000405330:V187L;ENSP00000342630:V187L;ENSP00000415934:V187L;ENSP00000387500:V187L;ENSP00000206249:V187L;ENSP00000445454:V14L	.|ENSP00000206249:V187L	Q|V	+|+	3|1	2|0	ESR1|ESR1	152205531|152205531	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.992000|0.992000	0.81027|0.81027	9.869000|9.869000	0.99810|0.99810	2.890000|2.890000	0.99128|0.99128	0.585000|0.585000	0.79938|0.79938	CAG|GTG		0.478	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			21	39	1	0	2.32416e-17	1	2.77275e-17	21	39				
SIGLEC9	27180	broad.mit.edu	37	19	51633170	51633170	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:51633170C>T	ENST00000250360.3	+	7	1293	c.1226C>T	c.(1225-1227)gCa>gTa	p.A409V	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	409					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GAACCTTGGGCAGAAGACAGT	0.602																																						ENST00000250360.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(1225-1227)gCa>gTa		sialic acid binding Ig-like lectin 9							72.0	77.0	75.0					19																	51633170		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51633170C>T	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.1226C>T	19.37:g.51633170C>T	ENSP00000250360:p.Ala409Val					SIGLEC9_ENST00000440804.3_Intron	p.A409V	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	7	1293	+		all_neural(266;0.0529)	409					Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.1226C>T	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	3.667	-0.068371	0.07228	.	.	ENSG00000129450	ENST00000250360	T	0.11712	2.75	1.96	-1.87	0.07737	.	.	.	.	.	T	0.07638	0.0192	M	0.63843	1.955	0.09310	N	1	P	0.36086	0.536	B	0.27380	0.079	T	0.29458	-1.0011	9	0.26408	T	0.33	.	2.1117	0.03704	0.2511:0.4132:0.0:0.3357	.	409	Q9Y336	SIGL9_HUMAN	V	409	ENSP00000250360:A409V	ENSP00000250360:A409V	A	+	2	0	SIGLEC9	56324982	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.824000	0.01708	-0.341000	0.08376	-0.346000	0.07831	GCA		0.602	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		42	68	0	0	0	1	0	42	68				
IL9R	3581	broad.mit.edu	37	X	155232562	155232562	+	Intron	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:155232562C>A	ENST00000244174.5	+	2	207				IL9R_ENST00000369423.2_Missense_Mutation_p.S54Y|IL9R_ENST00000540897.1_Missense_Mutation_p.S44Y|IL9R_ENST00000424344.3_5'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor						cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCAGCCCAGTCCCTTGCAGGC	0.627																																						ENST00000369423.2																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23						c.(160-162)tCc>tAc		interleukin 9 receptor							122.0	125.0	124.0					X																	155232562		2203	4296	6499	SO:0001627	intron_variant	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155232562C>A	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.29-9C>A	X.37:g.155232562C>A						IL9R_ENST00000424344.3_5'UTR|IL9R_ENST00000244174.5_Intron|IL9R_ENST00000540897.1_Missense_Mutation_p.S44Y	p.S54Y			Q01113	IL9R_HUMAN			3	199	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		0					B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.161C>A	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	c	12.64	1.997808	0.35226	.	.	ENSG00000124334	ENST00000369423;ENST00000540897	T;T	0.24723	1.84;1.85	1.29	1.29	0.21616	.	.	.	.	.	T	0.40423	0.1116	.	.	.	0.09310	N	1	D	0.62365	0.991	D	0.68039	0.955	T	0.10428	-1.0630	8	0.54805	T	0.06	.	5.5447	0.17057	0.0:1.0:0.0:0.0	.	54	B9ZVT0	.	Y	54;44	ENSP00000358431:S54Y;ENSP00000438112:S44Y	ENSP00000358431:S54Y	S	+	2	0	IL9R	154885756	0.836000	0.29430	0.980000	0.43619	0.890000	0.51754	0.541000	0.23207	0.932000	0.37266	0.287000	0.19450	TCC		0.627	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		43	69	1	0	2.35958e-20	1	2.85299e-20	43	69				
SEC22A	26984	broad.mit.edu	37	3	122964834	122964834	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:122964834C>T	ENST00000309934.4	+	4	1526	c.630C>T	c.(628-630)ggC>ggT	p.G210G	SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000492595.1_Silent_p.G210G	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	210					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		TAATTCGAGGCTTTCATGCTA	0.398																																						ENST00000309934.4																			0				NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(628-630)ggC>ggT		SEC22 vesicle trafficking protein homolog A (S. cerevisiae)							140.0	143.0	142.0					3																	122964834		2203	4300	6503	SO:0001819	synonymous_variant	26984				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity	g.chr3:122964834C>T	AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"""SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"""	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	ENST00000309934.4:c.630C>T	3.37:g.122964834C>T						SEC22A_ENST00000492595.1_Silent_p.G210G|SEC22A_ENST00000481965.2_Intron	p.G210G	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN		GBM - Glioblastoma multiforme(114;0.0548)	4	1526	+			210					B2RE26|Q9Y682	Silent	SNP	ENST00000309934.4	37	c.630C>T	CCDS3021.1																																																																																				0.398	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430		44	62	0	0	0	1	0	44	62				
ALDH1A1	216	broad.mit.edu	37	9	75520940	75520940	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:75520940C>G	ENST00000297785.3	-	12	1421	c.1367G>C	c.(1366-1368)tGc>tCc	p.C456S		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	456					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	CACGCCATAGCAATTCACCCT	0.358																																						ENST00000297785.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17						c.(1366-1368)tGc>tCc		aldehyde dehydrogenase 1 family, member A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						61.0	59.0	60.0					9																	75520940		2203	4300	6503	SO:0001583	missense	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75520940C>G	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.1367G>C	9.37:g.75520940C>G	ENSP00000297785:p.Cys456Ser						p.C456S	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN			12	1421	-			456					O00768|Q5SYR1	Missense_Mutation	SNP	ENST00000297785.3	37	c.1367G>C	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984872	0.74474	.	.	ENSG00000165092	ENST00000297785	T	0.74842	-0.88	5.91	5.91	0.95273	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	L	0.35542	1.07	0.80722	D	1	D;D	0.56521	0.976;0.957	P;P	0.59424	0.857;0.685	T	0.78790	-0.2066	10	0.49607	T	0.09	.	20.2885	0.98538	0.0:1.0:0.0:0.0	.	377;456	B4DDF8;P00352	.;AL1A1_HUMAN	S	456	ENSP00000297785:C456S	ENSP00000297785:C456S	C	-	2	0	ALDH1A1	74710760	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	7.440000	0.80464	2.791000	0.96007	0.650000	0.86243	TGC		0.358	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			3	35	0	0	0	1	0	3	35				
QPCTL	54814	broad.mit.edu	37	19	46198710	46198710	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:46198710C>T	ENST00000012049.5	+	3	588	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L	SNRPD2_ENST00000587579.1_5'Flank|QPCTL_ENST00000366382.4_Intron	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	123					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		GGAGGCCACGCTGCGGTCCCT	0.647																																						ENST00000012049.5																			0				breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11						c.(367-369)Ctg>Ttg		glutaminyl-peptide cyclotransferase-like							65.0	64.0	65.0					19																	46198710		2203	4300	6503	SO:0001819	synonymous_variant	54814				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding	g.chr19:46198710C>T	AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"""glutaminyl cyclase-like"""						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.367C>T	19.37:g.46198710C>T						QPCTL_ENST00000366382.4_Intron	p.L123L	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)	3	588	+		Ovarian(192;0.051)|all_neural(266;0.112)	123	Missing (in Ref. 4; AAH11553).				Q53HE4|Q96F74	Silent	SNP	ENST00000012049.5	37	c.367C>T	CCDS12672.1																																																																																				0.647	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459656.1	NM_017659		32	47	0	0	0	1	0	32	47				
ANGPT4	51378	broad.mit.edu	37	20	853762	853762	+	Splice_Site	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:853762C>G	ENST00000381922.3	-	9	1455	c.1353G>C	c.(1351-1353)ggG>ggC	p.G451G	ANGPT4_ENST00000546022.1_Splice_Site_p.V408L	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	451	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CAAACCACCACCCTGGTGGAA	0.592																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.e9-1		angiopoietin 4							45.0	42.0	43.0					20																	853762		2203	4300	6503	SO:0001630	splice_region_variant	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:853762C>G	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1352-1G>C	20.37:g.853762C>G						ANGPT4_ENST00000546022.1_Splice_Site_p.V408_splice	p.G451_splice	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN			9	1455	-			451			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Splice_Site	SNP	ENST00000381922.3	37	c.1351_splice	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	C	0.261	-0.999419	0.02128	.	.	ENSG00000101280	ENST00000546022	T	0.12672	2.66	4.25	-2.13	0.07144	.	.	.	.	.	T	0.04003	0.0112	.	.	.	0.18873	N	0.999984	B	0.02656	0.0	B	0.04013	0.001	T	0.43114	-0.9411	8	0.02654	T	1	.	5.1817	0.15163	0.0:0.3387:0.2643:0.397	.	408	B4E3J9	.	L	408	ENSP00000439605:V408L	ENSP00000439605:V408L	V	-	1	0	ANGPT4	801762	0.030000	0.19436	0.996000	0.52242	0.499000	0.33736	-0.914000	0.04038	-0.185000	0.10550	-0.326000	0.08463	GTG		0.592	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985	Silent	7	23	0	0	0	1	0	7	23				
ADCY8	114	broad.mit.edu	37	8	131792908	131792908	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:131792908C>A	ENST00000286355.5	-	18	5576	c.3484G>T	c.(3484-3486)Gaa>Taa	p.E1162*	ADCY8_ENST00000377928.3_Nonsense_Mutation_p.E1031*	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1162					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATTTTTCCTTCCTGTTCACTG	0.522										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(3484-3486)Gaa>Taa		adenylate cyclase 8 (brain)							188.0	195.0	193.0					8																	131792908		2203	4300	6503	SO:0001587	stop_gained	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131792908C>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3484G>T	8.37:g.131792908C>A	ENSP00000286355:p.Glu1162*	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Nonsense_Mutation_p.E1031*	p.E1162*	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		18	5576	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1162						Nonsense_Mutation	SNP	ENST00000286355.5	37	c.3484G>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	55	23.538784	0.99955	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	.	.	.	5.79	5.79	0.91817	.	0.054605	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0195	0.92908	0.0:1.0:0.0:0.0	.	.	.	.	X	1162;1031	.	ENSP00000286355:E1162X	E	-	1	0	ADCY8	131862090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.659000	0.83766	2.746000	0.94184	0.655000	0.94253	GAA		0.522	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			8	115	1	0	0.000157383	1	0.000164976	8	115				
OR4C6	219432	broad.mit.edu	37	11	55433332	55433332	+	Silent	SNP	G	G	A	rs368640550		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:55433332G>A	ENST00000314259.3	+	1	719	c.690G>A	c.(688-690)ggG>ggA	p.G230G		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GCTCTAAAGGGCGGCACAAAG	0.498																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(688-690)ggG>ggA		olfactory receptor, family 4, subfamily C, member 6		G		0,4400		0,0,2200	132.0	126.0	128.0		690	-3.5	0.0	11		128	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR4C6	NM_001004704.1		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		230/310	55433332	1,12991	2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433332G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.690G>A	11.37:g.55433332G>A							p.G230G	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	719	+			230					B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.690G>A	CCDS31506.1																																																																																				0.498	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		52	66	0	0	0	1	0	52	66				
TAB3	257397	broad.mit.edu	37	X	30872791	30872791	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:30872791G>A	ENST00000378933.1	-	3	1168	c.991C>T	c.(991-993)Cat>Tat	p.H331Y	TAB3_ENST00000378932.2_Missense_Mutation_p.H331Y|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000288422.2_Missense_Mutation_p.H331Y|TAB3_ENST00000378930.3_Missense_Mutation_p.H331Y|TAB3-AS2_ENST00000445240.1_RNA	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	331	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TGATATGGATGGGGTGGAGTA	0.468																																					Pancreas(164;1598 1985 29022 43301 49529)	ENST00000378933.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.(991-993)Cat>Tat		TGF-beta activated kinase 1/MAP3K7 binding protein 3							144.0	121.0	129.0					X																	30872791		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30872791G>A	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.991C>T	X.37:g.30872791G>A	ENSP00000368215:p.His331Tyr					TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378930.3_Missense_Mutation_p.H331Y|TAB3_ENST00000288422.2_Missense_Mutation_p.H331Y|TAB3_ENST00000378932.2_Missense_Mutation_p.H331Y	p.H331Y	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN			3	1168	-			331			Pro-rich.		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.991C>T	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629510	0.28978	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	4.93	4.93	0.64822	.	0.106890	0.64402	D	0.000004	T	0.54565	0.1866	N	0.19112	0.55	0.38278	D	0.942337	D;P	0.52996	0.957;0.928	B;B	0.42692	0.395;0.221	T	0.60000	-0.7348	10	0.02654	T	1	-4.9648	17.6123	0.88058	0.0:0.0:1.0:0.0	.	331;331	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	Y	331	ENSP00000368215:H331Y;ENSP00000368212:H331Y;ENSP00000288422:H331Y;ENSP00000368214:H331Y	ENSP00000288422:H331Y	H	-	1	0	TAB3	30782712	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.004000	0.63966	2.176000	0.68965	0.462000	0.41574	CAT		0.468	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		33	44	0	0	0	1	0	33	44				
FBXL3	26224	broad.mit.edu	37	13	77581466	77581466	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:77581466C>G	ENST00000355619.5	-	5	1425	c.1101G>C	c.(1099-1101)ggG>ggC	p.G367G	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	367					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		CTTCACATTCCCCTAGTCCAA	0.418																																						ENST00000355619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(1099-1101)ggG>ggC		F-box and leucine-rich repeat protein 3							133.0	124.0	127.0					13																	77581466		2203	4300	6503	SO:0001819	synonymous_variant	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581466C>G	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.1101G>C	13.37:g.77581466C>G						FBXL3_ENST00000477982.1_Intron	p.G367G	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1425	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	367					B2RB04|Q9P122	Silent	SNP	ENST00000355619.5	37	c.1101G>C	CCDS9457.1																																																																																				0.418	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			5	101	0	0	0	1	0	5	101				
PCDHGA12	26025	broad.mit.edu	37	5	140812340	140812340	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140812340C>G	ENST00000252085.3	+	1	2156	c.2014C>G	c.(2014-2016)Ctg>Gtg	p.L672V	PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	672	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCCAAGTCCTGGCGGACCT	0.657																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(2014-2016)Ctg>Gtg									71.0	81.0	78.0					5																	140812340		2203	4300	6503	SO:0001583	missense	26025							g.chr5:140812340C>G	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2014C>G	5.37:g.140812340C>G	ENSP00000252085:p.Leu672Val					PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	p.L672V	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2156	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.2014C>G	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	7.606	0.673767	0.14841	.	.	ENSG00000253159	ENST00000252085	T	0.50277	0.75	5.1	5.1	0.69264	Cadherin (1);	.	.	.	.	T	0.62502	0.2433	M	0.64080	1.96	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.967	T	0.54879	-0.8227	9	0.62326	D	0.03	.	8.3303	0.32182	0.1564:0.7625:0.0:0.0811	.	672;672	O60330-2;O60330	.;PCDGC_HUMAN	V	672	ENSP00000252085:L672V	ENSP00000252085:L672V	L	+	1	2	PCDHGA12	140792524	0.000000	0.05858	0.634000	0.29324	0.011000	0.07611	-0.057000	0.11768	2.519000	0.84933	0.561000	0.74099	CTG		0.657	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		22	150	0	0	0	1	0	22	150				
TCN2	6948	broad.mit.edu	37	22	31006904	31006904	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:31006904C>G	ENST00000215838.3	+	2	605	c.111C>G	c.(109-111)caC>caG	p.H37Q	TCN2_ENST00000407817.3_Missense_Mutation_p.H37Q|TCN2_ENST00000405742.3_Missense_Mutation_p.H37Q			P20062	TCO2_HUMAN	transcobalamin II	37					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGGCCAGCACCTCTTACCTT	0.537																																						ENST00000215838.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22						c.(109-111)caC>caG		transcobalamin II	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						148.0	140.0	143.0					22																	31006904		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31006904C>G		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.111C>G	22.37:g.31006904C>G	ENSP00000215838:p.His37Gln					TCN2_ENST00000405742.3_Missense_Mutation_p.H37Q|TCN2_ENST00000407817.3_Missense_Mutation_p.H37Q	p.H37Q			P20062	TCO2_HUMAN			2	605	+			37					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.111C>G	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	C	2.275	-0.366179	0.05069	.	.	ENSG00000185339	ENST00000215838;ENST00000423350;ENST00000405742;ENST00000407817	T;T;T;T	0.32753	1.44;1.44;1.44;1.48	6.16	-2.22	0.06952	.	0.988525	0.08276	N	0.970686	T	0.12347	0.0300	N	0.08118	0	0.41931	D	0.990562	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.06405	0.002;0.001;0.001	T	0.37686	-0.9695	10	0.12430	T	0.62	-3.525	6.1285	0.20192	0.0:0.2509:0.3547:0.3944	.	37;37;37	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	Q	37	ENSP00000215838:H37Q;ENSP00000411529:H37Q;ENSP00000385914:H37Q;ENSP00000384914:H37Q	ENSP00000215838:H37Q	H	+	3	2	TCN2	29336904	0.065000	0.20965	0.076000	0.20297	0.742000	0.42306	0.061000	0.14366	-0.141000	0.11374	-0.145000	0.13849	CAC		0.537	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		18	159	0	0	0	1	0	18	159				
AKNA	80709	broad.mit.edu	37	9	117139491	117139491	+	Missense_Mutation	SNP	C	C	G	rs377492573		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:117139491C>G	ENST00000307564.4	-	3	757	c.596G>C	c.(595-597)aGg>aCg	p.R199T	AKNA_ENST00000312033.3_Missense_Mutation_p.R199T|AKNA_ENST00000374075.5_Missense_Mutation_p.R118T|AKNA_ENST00000223791.3_5'Flank|AKNA_ENST00000374088.3_Missense_Mutation_p.R199T	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	199					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GCTCCAGGACCTTGCCGGGCT	0.612																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(595-597)aGg>aCg		AT-hook transcription factor							104.0	90.0	95.0					9																	117139491		2203	4300	6503	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117139491C>G	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.596G>C	9.37:g.117139491C>G	ENSP00000303769:p.Arg199Thr					AKNA_ENST00000374075.5_Missense_Mutation_p.R118T|AKNA_ENST00000312033.3_Missense_Mutation_p.R199T|AKNA_ENST00000374088.3_Missense_Mutation_p.R199T	p.R199T	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			3	757	-			199					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.596G>C	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	8.456	0.854091	0.17106	.	.	ENSG00000106948	ENST00000307564;ENST00000374088;ENST00000374075;ENST00000312033;ENST00000394574	T;T;T;T	0.36699	2.48;2.48;2.47;1.24	4.49	3.58	0.41010	.	0.171747	0.28312	N	0.015817	T	0.38692	0.1050	L	0.27053	0.805	0.50039	D	0.999848	D;P;P	0.62365	0.991;0.9;0.939	P;B;P	0.61070	0.883;0.307;0.503	T	0.17048	-1.0382	10	0.54805	T	0.06	-12.1987	7.9486	0.30001	0.0:0.8802:0.0:0.1198	.	199;199;118	Q7Z591-6;Q7Z591;Q7Z591-2	.;AKNA_HUMAN;.	T	199;199;118;199;199	ENSP00000303769:R199T;ENSP00000363201:R199T;ENSP00000363188:R118T;ENSP00000309222:R199T	ENSP00000303769:R199T	R	-	2	0	AKNA	116179312	0.001000	0.12720	0.401000	0.26359	0.198000	0.23893	0.177000	0.16801	0.962000	0.38057	0.462000	0.41574	AGG		0.612	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		13	82	0	0	0	1	0	13	82				
CLCN6	1185	broad.mit.edu	37	1	11897460	11897460	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:11897460G>C	ENST00000346436.6	+	20	2251	c.2199G>C	c.(2197-2199)gaG>gaC	p.E733D	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.E711D|CLCN6_ENST00000376496.3_Missense_Mutation_p.E733D	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	733					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGACCATGGAGGAGCGGTTCC	0.552																																						ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(2197-2199)gaG>gaC		chloride channel, voltage-sensitive 6							131.0	118.0	122.0					1																	11897460		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11897460G>C	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2199G>C	1.37:g.11897460G>C	ENSP00000234488:p.Glu733Asp					CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.E733D|CLCN6_ENST00000376487.3_Missense_Mutation_p.E711D	p.E733D	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	20	2251	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	733					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.2199G>C	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114801	0.56505	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.91686	-2.86;-2.85;-2.89	5.67	3.79	0.43588	.	0.000000	0.85682	D	0.000000	D	0.85741	0.5767	L	0.44542	1.39	0.80722	D	1	P;B	0.46512	0.879;0.436	B;B	0.37047	0.24;0.121	D	0.83535	0.0093	10	0.35671	T	0.21	-32.1234	9.325	0.37988	0.2211:0.0:0.7789:0.0	.	711;733	F8W9R3;P51797	.;CLCN6_HUMAN	D	733;711;733	ENSP00000234488:E733D;ENSP00000365670:E711D;ENSP00000365679:E733D	ENSP00000234488:E733D	E	+	3	2	CLCN6	11820047	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.669000	0.61575	1.400000	0.46741	0.561000	0.74099	GAG		0.552	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		12	116	0	0	0	1	0	12	116				
AATF	26574	broad.mit.edu	37	17	35343985	35343985	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:35343985C>T	ENST00000225402.5	+	5	1153	c.902C>T	c.(901-903)cCa>cTa	p.P301L		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	301	POLR2J binding.				apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TTCCAGTACCCAGACACTAGA	0.418																																					NSCLC(49;901 1159 19183 41572 46244)	ENST00000225402.5																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18						c.(901-903)cCa>cTa		apoptosis antagonizing transcription factor							157.0	149.0	152.0					17																	35343985		2203	4300	6503	SO:0001583	missense	26574				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity	g.chr17:35343985C>T	AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.902C>T	17.37:g.35343985C>T	ENSP00000225402:p.Pro301Leu						p.P301L	NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN			5	1153	+		Breast(25;0.00607)	301			POLR2J binding.		A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Missense_Mutation	SNP	ENST00000225402.5	37	c.902C>T	CCDS32632.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068102	0.76301	.	.	ENSG00000108270	ENST00000225402	.	.	.	5.96	5.96	0.96718	.	0.452380	0.27654	N	0.018419	T	0.79094	0.4388	M	0.81341	2.54	0.52501	D	0.999957	P	0.34909	0.475	P	0.47251	0.542	T	0.77424	-0.2593	9	0.48119	T	0.1	-8.7058	18.5997	0.91244	0.0:1.0:0.0:0.0	.	301	Q9NY61	AATF_HUMAN	L	301	.	ENSP00000225402:P301L	P	+	2	0	AATF	32418098	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.838000	0.62803	2.831000	0.97527	0.650000	0.86243	CCA		0.418	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451543.1	NM_012138		10	60	0	0	0	1	0	10	60				
HSD17B10	3028	broad.mit.edu	37	X	53458383	53458383	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:53458383C>A	ENST00000168216.6	-	6	782	c.755G>T	c.(754-756)cGg>cTg	p.R252L	RP3-339A18.6_ENST00000418049.1_RNA|HSD17B10_ENST00000375298.4_3'UTR|HSD17B10_ENST00000375304.5_Missense_Mutation_p.R243L|HSD17B10_ENST00000495986.1_5'Flank	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	252					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity (GO:0047015)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|cholate 7-alpha-dehydrogenase activity (GO:0008709)|poly(A) RNA binding (GO:0044822)|testosterone dehydrogenase [NAD(P)] activity (GO:0030283)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8						CCCATCCAGCCGGATGACCTC	0.572																																						ENST00000168216.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8						c.(754-756)cGg>cTg		hydroxysteroid (17-beta) dehydrogenase 10	NADH(DB00157)						79.0	55.0	63.0					X																	53458383		2203	4300	6503	SO:0001583	missense	3028				branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing	mitochondrial matrix|plasma membrane	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity	g.chrX:53458383C>A	U96132	CCDS14354.1, CCDS35300.1	Xp11.2	2014-09-17	2006-11-22	2006-11-22	ENSG00000072506	ENSG00000072506	1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	4800	protein-coding gene	gene with protein product	"""type 10 17b-HSD"", ""type 10 17beta-hydroxysteroid dehydrogenase"", ""AB-binding alcohol dehydrogenase"", ""short chain dehydrogenase/reductase family 5C, member 1"", ""mitochondrial RNase P subunit 2"""	300256	"""hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II"", ""mental retardation, X-linked, syndromic 10"""	HADH2, MRXS10		9338779, 16899120, 19027726, 18984158, 17236142	Standard	NM_004493		Approved	ERAB, MHBD, 17b-HSD10, ABAD, SDR5C1, MRPP2, CAMR	uc004dsl.1	Q99714	OTTHUMG00000021612	ENST00000168216.6:c.755G>T	X.37:g.53458383C>A	ENSP00000168216:p.Arg252Leu					HSD17B10_ENST00000375304.5_Missense_Mutation_p.R243L|HSD17B10_ENST00000375298.4_3'UTR	p.R252L	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN			6	782	-			252					Q5H927|Q6IBS9|Q8TCV9|Q96HD5	Missense_Mutation	SNP	ENST00000168216.6	37	c.755G>T	CCDS14354.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459457	0.84317	.	.	ENSG00000072506	ENST00000168216;ENST00000375304	D;D	0.90261	-2.64;-2.64	5.88	5.0	0.66597	NAD(P)-binding domain (1);	0.111818	0.64402	D	0.000010	D	0.94159	0.8126	M	0.62016	1.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94379	0.7603	10	0.87932	D	0	.	14.1091	0.65111	0.1515:0.8485:0.0:0.0	.	243;252	Q99714-2;Q99714	.;HCD2_HUMAN	L	252;243	ENSP00000168216:R252L;ENSP00000364453:R243L	ENSP00000168216:R252L	R	-	2	0	HSD17B10	53475108	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	7.344000	0.79328	1.191000	0.43056	0.600000	0.82982	CGG		0.572	HSD17B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056750.1	NM_004493		13	19	1	0	4.3838e-07	1	4.7624e-07	13	19				
NIPBL	25836	broad.mit.edu	37	5	36995843	36995843	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:36995843G>C	ENST00000282516.8	+	11	3740	c.3241G>C	c.(3241-3243)Gaa>Caa	p.E1081Q	NIPBL_ENST00000448238.2_Missense_Mutation_p.E1081Q|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1081					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CACAGTTAATGAAAAGCCAAA	0.363																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(3241-3243)Gaa>Caa		Nipped-B homolog (Drosophila)							108.0	105.0	106.0					5																	36995843		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36995843G>C	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3241G>C	5.37:g.36995843G>C	ENSP00000282516:p.Glu1081Gln					NIPBL_ENST00000448238.2_Missense_Mutation_p.E1081Q|NIPBL_ENST00000504430.1_3'UTR	p.E1081Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		11	3740	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1081					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.3241G>C	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300684	0.81136	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93859	-3.3;-3.3	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.92123	0.7503	L	0.27053	0.805	0.58432	D	0.999996	P;P	0.47409	0.895;0.879	P;P	0.50934	0.452;0.654	D	0.91691	0.5366	10	0.38643	T	0.18	.	19.1448	0.93461	0.0:0.0:1.0:0.0	.	1081;1081	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	Q	1081	ENSP00000282516:E1081Q;ENSP00000406266:E1081Q	ENSP00000282516:E1081Q	E	+	1	0	NIPBL	37031600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.659000	0.83766	2.540000	0.85666	0.591000	0.81541	GAA		0.363	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		6	127	0	0	0	1	0	6	127				
STS	412	broad.mit.edu	37	X	7171343	7171343	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:7171343G>C	ENST00000217961.4	+	2	338	c.118G>C	c.(118-120)Gga>Cga	p.G40R		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	40					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	CCTCGGCATTGGAGATCCTGG	0.517									Ichthyosis																													ENST00000217961.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27						c.(118-120)Gga>Cga		steroid sulfatase (microsomal), isozyme S	Estrone(DB00655)						122.0	98.0	106.0					X																	7171343		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7171343G>C	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.118G>C	X.37:g.7171343G>C	ENSP00000217961:p.Gly40Arg						p.G40R	NM_000351.4	NP_000342.2	P08842	STS_HUMAN			2	338	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	40					B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.118G>C	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234630	0.58886	.	.	ENSG00000101846	ENST00000217961	D	0.94184	-3.37	3.86	3.86	0.44501	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.96959	0.9007	M	0.90425	3.115	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	D	0.97750	1.0214	10	0.87932	D	0	.	13.9503	0.64113	0.0:0.0:1.0:0.0	.	40	P08842	STS_HUMAN	R	40	ENSP00000217961:G40R	ENSP00000217961:G40R	G	+	1	0	STS	7181343	1.000000	0.71417	0.565000	0.28409	0.426000	0.31534	8.022000	0.88759	1.547000	0.49401	0.600000	0.82982	GGA		0.517	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		13	75	0	0	0	1	0	13	75				
KIRREL3	84623	broad.mit.edu	37	11	126314937	126314937	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:126314937C>A	ENST00000525144.2	-	10	1438	c.1189G>T	c.(1189-1191)Gtg>Ttg	p.V397L	KIRREL3_ENST00000525704.2_Missense_Mutation_p.V397L|KIRREL3_ENST00000529097.2_Missense_Mutation_p.V397L	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	397	Ig-like C2-type 4.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GCCCGGCACACGTACTTGCCC	0.637																																						ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(1189-1191)Gtg>Ttg		kin of IRRE like 3 (Drosophila)							55.0	62.0	60.0					11																	126314937		2108	4208	6316	SO:0001583	missense	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126314937C>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1189G>T	11.37:g.126314937C>A	ENSP00000435466:p.Val397Leu					KIRREL3_ENST00000525704.2_Missense_Mutation_p.V397L|KIRREL3_ENST00000529097.2_Missense_Mutation_p.V397L	p.V397L	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	10	1438	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	397			Ig-like C2-type 4.		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	c.1189G>T	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306770	0.95629	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.27402	1.67;1.67;1.67	5.26	5.26	0.73747	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.48874	0.1524	L	0.41824	1.3	0.80722	D	1	D;D;P	0.76494	0.999;0.967;0.951	D;D;P	0.79784	0.993;0.976;0.896	T	0.43426	-0.9392	10	0.54805	T	0.06	.	18.8201	0.92092	0.0:1.0:0.0:0.0	.	397;397;397	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	L	397	ENSP00000435466:V397L;ENSP00000434081:V397L;ENSP00000435094:V397L	ENSP00000435466:V397L	V	-	1	0	KIRREL3	125820147	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.892000	0.63193	2.610000	0.88304	0.551000	0.68910	GTG		0.637	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		33	34	1	0	5.8336e-16	1	6.89076e-16	33	34				
BAGE2	85319	broad.mit.edu	37	21	11039132	11039132	+	RNA	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:11039132C>A	ENST00000470054.1	-	0	1071							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCCTCAGGACATAATGAAGT	0.403																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039132C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039132C>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1071	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.403	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		22	265	1	0	1.87028e-06	1	2.00148e-06	22	265				
POP7	10248	broad.mit.edu	37	7	100304576	100304576	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:100304576G>A	ENST00000303151.4	+	2	385	c.123G>A	c.(121-123)atG>atA	p.M41I		NM_005837.2	NP_005828.2	O75817	POP7_HUMAN	processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae)	41					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			endometrium(2)|kidney(1)|ovary(1)	4	Lung NSC(181;0.041)|all_lung(186;0.0581)					ATGTCAACATGAAGACGGACT	0.592																																						ENST00000303151.4																			0				endometrium(2)|kidney(1)|ovary(1)	4						c.(121-123)atG>atA		processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae)							72.0	82.0	78.0					7																	100304576		2203	4300	6503	SO:0001583	missense	10248				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr7:100304576G>A	U94316	CCDS5704.1	7q22	2012-05-21	2007-06-26		ENSG00000172336	ENSG00000172336			19949	protein-coding gene	gene with protein product	"""ribonuclease P protein subunit p20"""	606113	"""processing of precursor 7, ribonuclease P subunit (S. cerevisiae)"""			9630247	Standard	NM_005837		Approved	RPP20, RPP2	uc003uwh.4	O75817	OTTHUMG00000044311	ENST00000303151.4:c.123G>A	7.37:g.100304576G>A	ENSP00000304353:p.Met41Ile						p.M41I	NM_005837.2	NP_005828.2	O75817	POP7_HUMAN			2	385	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		41					A4D2E0|Q9BV74	Missense_Mutation	SNP	ENST00000303151.4	37	c.123G>A	CCDS5704.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409216	0.83340	.	.	ENSG00000172336	ENST00000303151;ENST00000457480	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.44767	0.1309	L	0.29908	0.895	0.53688	D	0.999976	P	0.44429	0.835	B	0.42245	0.381	T	0.40831	-0.9542	9	0.44086	T	0.13	-34.192	15.0806	0.72110	0.0:0.0:1.0:0.0	.	41	O75817	POP7_HUMAN	I	41	.	ENSP00000304353:M41I	M	+	3	0	POP7	100142512	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.959000	0.87885	2.629000	0.89072	0.561000	0.74099	ATG		0.592	POP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103070.1	NM_005837		13	139	0	0	0	1	0	13	139				
SEC23IP	11196	broad.mit.edu	37	10	121662422	121662422	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:121662422C>G	ENST00000369075.3	+	3	880	c.808C>G	c.(808-810)Cag>Gag	p.Q270E	SEC23IP_ENST00000543134.1_Missense_Mutation_p.Q59E	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	270	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TGAGCCTGTTCAGCCCCACTG	0.468																																						ENST00000369075.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36						c.(808-810)Cag>Gag		SEC23 interacting protein							112.0	104.0	107.0					10																	121662422		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121662422C>G	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.808C>G	10.37:g.121662422C>G	ENSP00000358071:p.Gln270Glu					SEC23IP_ENST00000543134.1_Missense_Mutation_p.Q59E	p.Q270E	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	3	880	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	270			Interaction with SEC23A.		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.808C>G	CCDS7618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.57|16.57	3.160518|3.160518	0.57368|0.57368	.|.	.|.	ENSG00000107651|ENSG00000107651	ENST00000369075;ENST00000543134;ENST00000446561|ENST00000442952	T;T;T|.	0.40476|.	1.56;1.6;1.03|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.102755|.	0.64402|.	D|.	0.000002|.	T|.	0.69708|.	0.3141|.	L|L	0.47016|0.47016	1.485|1.485	0.80722|0.80722	D|D	1|1	P;P|.	0.51791|.	0.948;0.895|.	P;P|.	0.46452|.	0.517;0.469|.	T|.	0.64875|.	-0.6304|.	10|.	0.02654|.	T|.	1|.	-12.2777|-12.2777	19.5612|19.5612	0.95373|0.95373	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	59;270|.	F5H0L8;Q9Y6Y8|.	.;S23IP_HUMAN|.	E|X	270;59;4|35	ENSP00000358071:Q270E;ENSP00000438773:Q59E;ENSP00000396906:Q4E|.	ENSP00000358071:Q270E|.	Q|S	+|+	1|2	0|0	SEC23IP|SEC23IP	121652412|121652412	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.939000|0.939000	0.58152|0.58152	7.280000|7.280000	0.78610|0.78610	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.468	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			4	70	0	0	0	1	0	4	70				
ZNF366	167465	broad.mit.edu	37	5	71739685	71739685	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:71739685G>A	ENST00000318442.5	-	5	2623	c.2133C>T	c.(2131-2133)ggC>ggT	p.G711G	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	711	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AAAAAGAGGGGCCCCGCCGGG	0.502																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(2131-2133)ggC>ggT		zinc finger protein 366							66.0	77.0	73.0					5																	71739685		2203	4300	6503	SO:0001819	synonymous_variant	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71739685G>A	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.2133C>T	5.37:g.71739685G>A							p.G711G	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	5	2623	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	711					Q5HYI9|Q7RTV4	Silent	SNP	ENST00000318442.5	37	c.2133C>T	CCDS4015.1																																																																																				0.502	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			38	78	0	0	0	1	0	38	78				
PTPRJ	5795	broad.mit.edu	37	11	48166390	48166390	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:48166390C>G	ENST00000418331.2	+	13	3091	c.2739C>G	c.(2737-2739)acC>acG	p.T913T		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	913					contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATGAGTCAACCACACTTGGTT	0.433																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(2737-2739)acC>acG		protein tyrosine phosphatase, receptor type, J							197.0	204.0	201.0					11																	48166390		2201	4298	6499	SO:0001819	synonymous_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48166390C>G	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2739C>G	11.37:g.48166390C>G							p.T913T	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			13	3091	+			913					Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	c.2739C>G	CCDS7945.1																																																																																				0.433	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			29	105	0	0	0	1	0	29	105				
ZNF208	7757	broad.mit.edu	37	19	22157366	22157366	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:22157366C>T	ENST00000397126.4	-	4	618	c.470G>A	c.(469-471)tGt>tAt	p.C157Y	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAATTTGAACATTTATGAAA	0.333																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(469-471)tGt>tAt		zinc finger protein 208							122.0	118.0	119.0					19																	22157366		2031	4222	6253	SO:0001583	missense	7757							g.chr19:22157366C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.470G>A	19.37:g.22157366C>T	ENSP00000380315:p.Cys157Tyr					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.C157Y	NM_007153.3	NP_009084.2					4	618	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.470G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.556608	0.00138	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.14516	2.5	1.75	-2.37	0.06643	.	.	.	.	.	T	0.03695	0.0105	.	.	.	0.09310	N	1	B	0.18741	0.03	B	0.15870	0.014	T	0.41161	-0.9524	8	0.02654	T	1	.	2.9435	0.05839	0.2213:0.4809:0.0:0.2978	.	157	O43345	ZN208_HUMAN	Y	157	ENSP00000380315:C157Y	ENSP00000380315:C157Y	C	-	2	0	ZNF208	21949206	0.000000	0.05858	0.002000	0.10522	0.679000	0.39708	-1.401000	0.02502	-0.322000	0.08615	0.289000	0.19496	TGT		0.333	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		25	37	0	0	0	1	0	25	37				
KIAA1429	25962	broad.mit.edu	37	8	95523769	95523769	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:95523769G>C	ENST00000297591.5	-	13	3109	c.3034C>G	c.(3034-3036)Ctt>Gtt	p.L1012V	KIAA1429_ENST00000523405.1_5'UTR|KIAA1429_ENST00000437199.1_Missense_Mutation_p.L1012V|KIAA1429_ENST00000421249.2_Missense_Mutation_p.L1012V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1012					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTTTTAAGAAGAGTGAGTGTG	0.448																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3034-3036)Ctt>Gtt		KIAA1429							91.0	88.0	89.0					8																	95523769		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95523769G>C	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.3034C>G	8.37:g.95523769G>C	ENSP00000297591:p.Leu1012Val					KIAA1429_ENST00000421249.2_Missense_Mutation_p.L1012V|KIAA1429_ENST00000437199.1_Missense_Mutation_p.L1012V|KIAA1429_ENST00000523405.1_5'UTR	p.L1012V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		13	3109	-	Breast(36;3.29e-05)		1012					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.3034C>G	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651175	0.47362	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.65178	-0.13;-0.12;-0.14	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.62804	0.2458	N	0.12746	0.255	0.58432	D	0.999998	D;D	0.67145	0.996;0.996	D;D	0.75484	0.986;0.986	T	0.66736	-0.5848	10	0.54805	T	0.06	-15.5949	12.8108	0.57639	0.075:0.0:0.925:0.0	.	1012;1012	Q69YN4-4;Q69YN4	.;VIR_HUMAN	V	1012	ENSP00000297591:L1012V;ENSP00000395600:L1012V;ENSP00000398390:L1012V	ENSP00000297591:L1012V	L	-	1	0	KIAA1429	95592945	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.189000	0.65098	2.678000	0.91216	0.650000	0.86243	CTT		0.448	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		10	107	0	0	0	1	0	10	107				
PAPPA2	60676	broad.mit.edu	37	1	176668450	176668450	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:176668450G>T	ENST00000367662.3	+	8	4125	c.2961G>T	c.(2959-2961)ttG>ttT	p.L987F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	987					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGAGATCTTGCTGGAAAACA	0.557																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(2959-2961)ttG>ttT		pappalysin 2							209.0	209.0	209.0					1																	176668450		2128	4235	6363	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176668450G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2961G>T	1.37:g.176668450G>T	ENSP00000356634:p.Leu987Phe						p.L987F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			8	4125	+			987					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2961G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319526	0.60524	.	.	ENSG00000116183	ENST00000367662	T	0.01981	4.52	5.38	2.48	0.30137	Fibronectin, type III (2);	0.076767	0.56097	D	0.000022	T	0.05731	0.0150	M	0.73962	2.25	0.80722	D	1	P	0.49358	0.923	P	0.47981	0.563	T	0.20773	-1.0265	10	0.87932	D	0	-11.7543	10.5087	0.44849	0.2146:0.0:0.7854:0.0	.	987	Q9BXP8	PAPP2_HUMAN	F	987	ENSP00000356634:L987F	ENSP00000356634:L987F	L	+	3	2	PAPPA2	174935073	0.946000	0.32159	1.000000	0.80357	0.818000	0.46254	0.545000	0.23268	0.848000	0.35191	0.655000	0.94253	TTG		0.557	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			84	119	1	0	2.68325e-40	1	3.36345e-40	84	119				
PRKRIR	5612	broad.mit.edu	37	11	76062271	76062271	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:76062271C>A	ENST00000260045.3	-	5	2028	c.1923G>T	c.(1921-1923)gaG>gaT	p.E641D	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	641					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AACAATGAAGCTCAGCTGACA	0.463																																						ENST00000260045.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						c.(1921-1923)gaG>gaT		protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)							151.0	136.0	142.0					11																	76062271		2200	4292	6492	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76062271C>A	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1923G>T	11.37:g.76062271C>A	ENSP00000260045:p.Glu641Asp						p.E641D	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN			5	2028	-			641					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.1923G>T	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.760972	0.69763	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.21734	1.99;1.99	5.18	3.18	0.36537	HAT dimerisation (1);Ribonuclease H-like (1);	0.042928	0.85682	D	0.000000	T	0.37571	0.1008	M	0.81802	2.56	0.52099	D	0.999945	D	0.55800	0.973	P	0.54706	0.759	T	0.26883	-1.0090	10	0.45353	T	0.12	.	10.4791	0.44682	0.0:0.7682:0.0:0.2318	.	641	O43422	P52K_HUMAN	D	466;641	ENSP00000436249:E466D;ENSP00000260045:E641D	ENSP00000260045:E641D	E	-	3	2	PRKRIR	75739919	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.993000	0.40747	1.274000	0.44362	-0.374000	0.07098	GAG		0.463	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		65	107	1	0	1.98135e-44	1	2.49671e-44	65	107				
FCRL6	343413	broad.mit.edu	37	1	159778940	159778940	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:159778940C>A	ENST00000368106.3	+	4	510	c.509C>A	c.(508-510)gCc>gAc	p.A170D	FCRL6_ENST00000321935.6_Missense_Mutation_p.A177D|FCRL6_ENST00000392235.3_Intron|FCRL6_ENST00000339348.5_Missense_Mutation_p.A170D	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	170	Ig-like C2-type 2.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					ATCCCGGGAGCCAAGGAGGGA	0.632																																						ENST00000321935.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(529-531)gCc>gAc		Fc receptor-like 6							52.0	57.0	56.0					1																	159778940		2203	4300	6503	SO:0001583	missense	343413					integral to membrane		g.chr1:159778940C>A	AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.509C>A	1.37:g.159778940C>A	ENSP00000357086:p.Ala170Asp					FCRL6_ENST00000368106.3_Missense_Mutation_p.A170D|FCRL6_ENST00000339348.5_Missense_Mutation_p.A170D|FCRL6_ENST00000392235.3_Intron	p.A177D			Q6DN72	FCRL6_HUMAN			5	616	+	all_hematologic(112;0.0597)		170			Ig-like C2-type 2.		A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	ENST00000368106.3	37	c.530C>A	CCDS30912.1	.	.	.	.	.	.	.	.	.	.	c	12.59	1.983331	0.35036	.	.	ENSG00000181036	ENST00000321935;ENST00000339348;ENST00000368106	T;T;T	0.14022	2.54;2.54;2.54	4.46	-4.04	0.04010	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.336600	0.05596	N	0.575449	T	0.15132	0.0365	M	0.91972	3.26	0.09310	N	1	P;P;P	0.42203	0.541;0.773;0.693	P;P;P	0.48368	0.575;0.455;0.533	T	0.26360	-1.0105	10	0.66056	D	0.02	.	7.1537	0.25624	0.0:0.5564:0.1259:0.3177	.	170;170;177	Q6DN72-3;Q6DN72;Q6DN72-2	.;FCRL6_HUMAN;.	D	177;170;170	ENSP00000320625:A177D;ENSP00000340949:A170D;ENSP00000357086:A170D	ENSP00000320625:A177D	A	+	2	0	FCRL6	158045564	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	0.503000	0.22610	-0.879000	0.04002	-1.652000	0.00757	GCC		0.632	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310		27	52	1	0	7.41945e-09	1	8.22217e-09	27	52				
BLNK	29760	broad.mit.edu	37	10	97975101	97975101	+	Missense_Mutation	SNP	C	C	T	rs375608442		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:97975101C>T	ENST00000224337.5	-	8	793	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	BLNK_ENST00000413476.2_Missense_Mutation_p.A218T|BLNK_ENST00000427367.2_Missense_Mutation_p.A218T|BLNK_ENST00000371176.2_Intron	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	218	Pro-rich.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GGAGGAGAGGCGGGCGTTGAG	0.353													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16158	0.0		0.0	False		,,,				2504	0.0					ENST00000224337.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14						c.(652-654)Gcc>Acc		B-cell linker		C	,THR/ALA	0,4406		0,0,2203	122.0	111.0	115.0		,652	-0.8	0.0	10		115	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense	BLNK	NM_001114094.1,NM_013314.3	,58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,benign	,218/457	97975101	2,13004	2203	4300	6503	SO:0001583	missense	29760				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr10:97975101C>T	AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.652G>A	10.37:g.97975101C>T	ENSP00000224337:p.Ala218Thr					BLNK_ENST00000413476.2_Missense_Mutation_p.A218T|BLNK_ENST00000427367.2_Missense_Mutation_p.A218T|BLNK_ENST00000371176.2_Intron	p.A218T	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)	8	793	-		Colorectal(252;0.083)	218			Pro-rich.		O75498|O75499|Q2MD49	Missense_Mutation	SNP	ENST00000224337.5	37	c.652G>A	CCDS7446.1	.	.	.	.	.	.	.	.	.	.	C	1.373	-0.585545	0.03827	0.0	2.33E-4	ENSG00000095585	ENST00000224337;ENST00000427367;ENST00000413476	.	.	.	3.61	-0.82	0.10826	.	0.416802	0.28465	N	0.015247	T	0.17662	0.0424	L	0.41236	1.265	0.09310	N	1	P;B	0.35982	0.531;0.368	B;B	0.28465	0.09;0.028	T	0.12041	-1.0563	9	0.21014	T	0.42	0.0	2.8506	0.05556	0.2006:0.4376:0.0:0.3618	.	218;218	Q2MD49;Q8WV28	.;BLNK_HUMAN	T	218	.	ENSP00000224337:A218T	A	-	1	0	BLNK	97965091	0.000000	0.05858	0.001000	0.08648	0.060000	0.15804	-0.464000	0.06688	-0.020000	0.14032	-0.266000	0.10368	GCC		0.353	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049593.1	NM_013314		30	34	0	0	0	1	0	30	34				
OR10Z1	128368	broad.mit.edu	37	1	158576928	158576928	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:158576928C>A	ENST00000361284.1	+	1	700	c.700C>A	c.(700-702)Cag>Aag	p.Q234K		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGCTGAGGGGCAGAAGAAGGC	0.512																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(700-702)Cag>Aag		olfactory receptor, family 10, subfamily Z, member 1							166.0	166.0	166.0					1																	158576928		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576928C>A	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.700C>A	1.37:g.158576928C>A	ENSP00000354707:p.Gln234Lys						p.Q234K	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	700	+	all_hematologic(112;0.0378)		234					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.700C>A	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	C	9.651	1.141664	0.21205	.	.	ENSG00000198967	ENST00000361284	T	0.00051	8.81	5.25	-2.41	0.06562	GPCR, rhodopsin-like superfamily (1);	0.649079	0.12672	N	0.448736	T	0.00039	0.0001	N	0.01146	-0.985	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.35992	-0.9766	10	0.37606	T	0.19	.	17.4491	0.87587	0.8137:0.1863:0.0:0.0	.	234	Q8NGY1	O10Z1_HUMAN	K	234	ENSP00000354707:Q234K	ENSP00000354707:Q234K	Q	+	1	0	OR10Z1	156843552	0.000000	0.05858	0.005000	0.12908	0.926000	0.56050	0.328000	0.19681	-0.193000	0.10415	0.650000	0.86243	CAG		0.512	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		56	97	1	0	1.0442e-30	1	1.29307e-30	56	97				
SLC35G3	146861	broad.mit.edu	37	17	33521019	33521019	+	Missense_Mutation	SNP	C	C	A	rs148354465		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:33521019C>A	ENST00000297307.5	-	1	393	c.308G>T	c.(307-309)cGg>cTg	p.R103L	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	103	EamA 1.					integral component of membrane (GO:0016021)		p.R103L(1)									GAAGAAGGCCCGGCTTCGGAT	0.592																																						ENST00000297307.5																			1	Substitution - Missense(1)	p.R103L(1)	lung(1)								c.(307-309)cGg>cTg		solute carrier family 35, member G3							128.0	134.0	132.0					17																	33521019		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33521019C>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.308G>T	17.37:g.33521019C>A	ENSP00000297307:p.Arg103Leu						p.R103L	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	393	-			103			DUF6 1.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.308G>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589143	0.28357	.	.	ENSG00000164729	ENST00000297307	T	0.37915	1.17	.	.	.	.	0.244821	0.21560	N	0.072582	T	0.21509	0.0518	L	0.32530	0.975	0.49130	D	0.999755	B	0.32620	0.378	B	0.35353	0.201	T	0.06092	-1.0846	9	0.11485	T	0.65	-0.4591	5.844	0.18652	0.0:0.9991:0.0:9.0E-4	.	103	Q8N808	S35G3_HUMAN	L	103	ENSP00000297307:R103L	ENSP00000297307:R103L	R	-	2	0	SLC35G3	30545132	0.713000	0.27926	0.130000	0.21974	0.130000	0.20726	3.560000	0.53763	0.064000	0.16427	0.064000	0.15345	CGG		0.592	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		96	140	1	0	1.59228e-47	1	2.01352e-47	96	140				
ZPLD1	131368	broad.mit.edu	37	3	102157397	102157397	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:102157397C>A	ENST00000491959.1	+	9	948	c.66C>A	c.(64-66)aaC>aaA	p.N22K	ZPLD1_ENST00000306176.1_Missense_Mutation_p.N38K|ZPLD1_ENST00000466937.1_Missense_Mutation_p.N22K			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	22						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CTCAGTTCAACGGCTACAACT	0.413																																						ENST00000306176.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						c.(112-114)aaC>aaA		zona pellucida-like domain containing 1							129.0	116.0	120.0					3																	102157397		2203	4300	6503	SO:0001583	missense	131368					integral to membrane		g.chr3:102157397C>A	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.66C>A	3.37:g.102157397C>A	ENSP00000420265:p.Asn22Lys					ZPLD1_ENST00000491959.1_Missense_Mutation_p.N22K|ZPLD1_ENST00000466937.1_Missense_Mutation_p.N22K	p.N38K	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN			2	214	+			22					Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37	c.114C>A		.	.	.	.	.	.	.	.	.	.	C	13.61	2.288300	0.40494	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	T;T;T	0.80480	-1.36;-1.38;-1.36	5.0	1.37	0.22104	.	0.000000	0.85682	D	0.000000	T	0.77061	0.4075	L	0.36672	1.1	0.53688	D	0.999978	P;P	0.52061	0.95;0.744	P;B	0.53313	0.723;0.32	T	0.72730	-0.4205	10	0.42905	T	0.14	-0.665	9.0522	0.36383	0.0:0.307:0.0:0.693	.	38;22	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	K	22;38;22	ENSP00000420265:N22K;ENSP00000307801:N38K;ENSP00000418253:N22K	ENSP00000307801:N38K	N	+	3	2	ZPLD1	103640087	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.084000	0.30828	0.259000	0.21709	-0.383000	0.06682	AAC		0.413	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		9	40	1	0	7.48243e-07	1	8.09186e-07	9	40				
POMT1	10585	broad.mit.edu	37	9	134385675	134385675	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:134385675G>C	ENST00000372228.3	+	9	973	c.794G>C	c.(793-795)cGa>cCa	p.R265P	POMT1_ENST00000541219.1_Missense_Mutation_p.R21P|POMT1_ENST00000354713.4_Missense_Mutation_p.R213P|POMT1_ENST00000341012.7_Missense_Mutation_p.R189P|POMT1_ENST00000423007.1_Missense_Mutation_p.R243P|POMT1_ENST00000404875.2_Missense_Mutation_p.R126P|POMT1_ENST00000419118.2_Missense_Mutation_p.R91P|POMT1_ENST00000402686.3_Missense_Mutation_p.R243P	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	265					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTGCTCGCCCGAGCAGTGGCT	0.517																																						ENST00000423007.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31						c.(727-729)cGa>cCa		protein-O-mannosyltransferase 1							111.0	89.0	96.0					9																	134385675		2203	4300	6503	SO:0001583	missense	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134385675G>C	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.794G>C	9.37:g.134385675G>C	ENSP00000361302:p.Arg265Pro					POMT1_ENST00000354713.4_Missense_Mutation_p.R213P|POMT1_ENST00000419118.2_Missense_Mutation_p.R91P|POMT1_ENST00000341012.7_Missense_Mutation_p.R189P|POMT1_ENST00000541219.1_Missense_Mutation_p.R21P|POMT1_ENST00000372228.3_Missense_Mutation_p.R265P|POMT1_ENST00000402686.3_Missense_Mutation_p.R243P|POMT1_ENST00000404875.2_Missense_Mutation_p.R126P	p.R243P	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	9	1170	+		Myeloproliferative disorder(178;0.204)	265					B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	c.728G>C	CCDS6943.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593777	0.66219	.	.	ENSG00000130714	ENST00000423007;ENST00000404875;ENST00000341012;ENST00000441334;ENST00000372228;ENST00000402686;ENST00000419118;ENST00000541219;ENST00000354713;ENST00000448212;ENST00000430619	D;D;D;D;D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.39	5.39	0.77823	Glycosyl transferase, family 39 (1);	0.000000	0.85682	D	0.000000	D	0.95984	0.8692	H	0.97077	3.935	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.998	D	0.97343	0.9958	10	0.87932	D	0	-7.7041	17.7377	0.88399	0.0:0.0:1.0:0.0	.	213;21;265;243	B4DTW4;B4DI80;Q9Y6A1;Q9Y6A1-2	.;.;POMT1_HUMAN;.	P	243;126;189;148;265;243;91;21;213;211;126	ENSP00000404119:R243P;ENSP00000384531:R126P;ENSP00000343034:R189P;ENSP00000395060:R148P;ENSP00000361302:R265P;ENSP00000385797:R243P;ENSP00000403032:R91P;ENSP00000440895:R21P;ENSP00000346748:R213P;ENSP00000403736:R211P;ENSP00000402083:R126P	ENSP00000343034:R189P	R	+	2	0	POMT1	133375496	0.997000	0.39634	0.810000	0.32431	0.392000	0.30506	8.747000	0.91610	2.526000	0.85167	0.561000	0.74099	CGA		0.517	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		7	41	0	0	0	1	0	7	41				
LRRC49	54839	broad.mit.edu	37	15	71341771	71341771	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:71341771C>G	ENST00000260382.5	+	16	2141	c.1881C>G	c.(1879-1881)ttC>ttG	p.F627L	LRRC49_ENST00000560691.1_Missense_Mutation_p.F333L|LRRC49_ENST00000560158.2_Missense_Mutation_p.F315L|LRRC49_ENST00000544974.2_Missense_Mutation_p.F617L|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.F583L|LRRC49_ENST00000560369.1_Missense_Mutation_p.F632L	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	627						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AGAAGAAATTCTGTAAAACAT	0.333																																						ENST00000260382.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(1879-1881)ttC>ttG		leucine rich repeat containing 49							45.0	50.0	48.0					15																	71341771		2198	4295	6493	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71341771C>G		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1881C>G	15.37:g.71341771C>G	ENSP00000260382:p.Phe627Leu					LRRC49_ENST00000560369.1_Missense_Mutation_p.F632L|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.F583L|LRRC49_ENST00000560691.1_Missense_Mutation_p.F333L|LRRC49_ENST00000560158.2_Missense_Mutation_p.F315L|LRRC49_ENST00000544974.2_Missense_Mutation_p.F617L	p.F627L	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			16	2141	+			627					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.1881C>G	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	c	11.35	1.612150	0.28712	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.34859	1.34;1.34;1.34	5.11	1.78	0.24846	.	0.169439	0.52532	N	0.000066	T	0.21718	0.0523	L	0.43152	1.355	0.38572	D	0.949962	B;P;P;P;P	0.37500	0.287;0.597;0.597;0.462;0.487	B;B;B;B;B	0.31869	0.048;0.137;0.137;0.065;0.122	T	0.07083	-1.0791	10	0.20046	T	0.44	-11.7138	5.813	0.18477	0.0:0.6381:0.1659:0.1959	.	632;599;583;627;617	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	L	617;627;583;599	ENSP00000439600:F617L;ENSP00000260382:F627L;ENSP00000414065:F583L	ENSP00000260382:F627L	F	+	3	2	LRRC49	69128825	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	0.982000	0.29539	0.635000	0.30488	0.655000	0.94253	TTC		0.333	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		3	48	0	0	0	1	0	3	48				
DGKD	8527	broad.mit.edu	37	2	234357766	234357766	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:234357766G>C	ENST00000264057.2	+	15	1644	c.1632G>C	c.(1630-1632)gaG>gaC	p.E544D	DGKD_ENST00000409813.3_Missense_Mutation_p.E500D	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	544					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TCCTGAAAGAGAAGCTGGATT	0.577																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(1630-1632)gaG>gaC		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)						155.0	153.0	154.0					2																	234357766		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234357766G>C	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.1632G>C	2.37:g.234357766G>C	ENSP00000264057:p.Glu544Asp					DGKD_ENST00000409813.3_Missense_Mutation_p.E500D	p.E544D	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	15	1644	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	544					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.1632G>C	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037192	0.93630	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.81078	-1.29;-1.45	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	D	0.88280	0.6394	M	0.70275	2.135	0.58432	D	0.999998	P;D;D	0.67145	0.931;0.996;0.995	P;D;P	0.76071	0.659;0.987;0.893	D	0.85983	0.1484	10	0.26408	T	0.33	.	17.7938	0.88564	0.0:0.0:1.0:0.0	.	428;500;544	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	D	544;500	ENSP00000264057:E544D;ENSP00000386455:E500D	ENSP00000264057:E544D	E	+	3	2	DGKD	234022505	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.512000	0.67030	2.533000	0.85409	0.655000	0.94253	GAG		0.577	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		7	153	0	0	0	1	0	7	153				
FSTL5	56884	broad.mit.edu	37	4	162697188	162697188	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:162697188T>G	ENST00000306100.5	-	5	884	c.448A>C	c.(448-450)Aat>Cat	p.N150H	FSTL5_ENST00000379164.4_Missense_Mutation_p.N149H|FSTL5_ENST00000536695.1_Missense_Mutation_p.N149H|FSTL5_ENST00000427802.2_Missense_Mutation_p.N149H	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	150						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATAGCATATTTTTCATCTTG	0.279																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(448-450)Aat>Cat		follistatin-like 5							46.0	46.0	46.0					4																	162697188		2200	4291	6491	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162697188T>G	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.448A>C	4.37:g.162697188T>G	ENSP00000305334:p.Asn150His					FSTL5_ENST00000536695.1_Missense_Mutation_p.N149H|FSTL5_ENST00000379164.4_Missense_Mutation_p.N149H|FSTL5_ENST00000427802.2_Missense_Mutation_p.N149H	p.N150H	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	5	884	-	all_hematologic(180;0.24)		150					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.448A>C	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	T	8.604	0.887537	0.17540	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.72835	-0.67;-0.65;-0.69;-0.65	5.3	2.84	0.33178	.	0.497486	0.24461	N	0.038326	T	0.58779	0.2146	L	0.29908	0.895	0.27672	N	0.946734	B;B;B	0.32031	0.162;0.352;0.162	B;B;B	0.39299	0.172;0.296;0.066	T	0.50215	-0.8854	10	0.29301	T	0.29	.	7.553	0.27808	0.0:0.0742:0.1424:0.7833	.	149;149;150	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	H	150;149;149;149	ENSP00000305334:N150H;ENSP00000368462:N149H;ENSP00000389270:N149H;ENSP00000440409:N149H	ENSP00000305334:N150H	N	-	1	0	FSTL5	162916638	1.000000	0.71417	0.622000	0.29159	0.263000	0.26337	6.134000	0.71689	0.400000	0.25396	-0.321000	0.08615	AAT		0.279	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		13	17	0	0	0	1	0	13	17				
TRAP1	10131	broad.mit.edu	37	16	3727627	3727627	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:3727627C>A	ENST00000246957.5	-	6	664	c.576G>T	c.(574-576)gaG>gaT	p.E192D	TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000538171.1_Missense_Mutation_p.E139D|TRAP1_ENST00000575671.1_De_novo_Start_OutOfFrame	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	192					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TGCTGCTGGCCTCAGCCTGGT	0.612																																						ENST00000575671.1																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19								TNF receptor-associated protein 1							99.0	81.0	87.0					16																	3727627		2197	4300	6497	SO:0001583	missense	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3727627C>A	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.576G>T	16.37:g.3727627C>A	ENSP00000246957:p.Glu192Asp					TRAP1_ENST00000246957.5_Missense_Mutation_p.E192D|TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000538171.1_Missense_Mutation_p.E139D				Q12931	TRAP1_HUMAN			0	678	-		Ovarian(90;0.0261)						B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Translation_Start_Site	SNP	ENST00000246957.5	37		CCDS10508.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306895	0.40795	.	.	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.76316	-1.01;-1.01	5.97	5.01	0.66863	ATPase-like, ATP-binding domain (4);	0.050170	0.85682	N	0.000000	T	0.55449	0.1921	N	0.05199	-0.095	0.58432	D	0.999993	B;B	0.09022	0.0;0.002	B;B	0.13407	0.002;0.009	T	0.50734	-0.8793	10	0.28530	T	0.3	-37.7649	8.2231	0.31554	0.0:0.6142:0.3043:0.0815	.	139;192	F5H897;Q12931	.;TRAP1_HUMAN	D	192;139	ENSP00000246957:E192D;ENSP00000442070:E139D	ENSP00000246957:E192D	E	-	3	2	TRAP1	3667628	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.440000	0.44855	1.512000	0.48834	0.655000	0.94253	GAG		0.612	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		10	62	1	0	4.68919e-08	1	5.16459e-08	10	62				
KIFC3	3801	broad.mit.edu	37	16	57803506	57803506	+	Splice_Site	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:57803506C>G	ENST00000379655.4	-	9	1476		c.e9+1		KIFC3_ENST00000539578.1_Splice_Site|KIFC3_ENST00000562903.1_Splice_Site|KIFC3_ENST00000566975.1_5'Flank|KIFC3_ENST00000541240.1_Splice_Site|KIFC3_ENST00000445690.2_Splice_Site|KIFC3_ENST00000421376.2_Splice_Site|KIFC3_ENST00000540079.2_Splice_Site|KIFC3_ENST00000543930.1_Splice_Site|KIFC3_ENST00000465878.2_Splice_Site	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3						ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CCCTCGCTCACCTCGGCCTTG	0.657																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.e9+1		kinesin family member C3							38.0	42.0	40.0					16																	57803506		2198	4300	6498	SO:0001630	splice_region_variant	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57803506C>G	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1218+1G>C	16.37:g.57803506C>G						KIFC3_ENST00000539578.1_Splice_Site|KIFC3_ENST00000541240.1_Splice_Site|KIFC3_ENST00000445690.2_Splice_Site|KIFC3_ENST00000540079.2_Splice_Site|KIFC3_ENST00000421376.2_Splice_Site|KIFC3_ENST00000543930.1_Splice_Site|KIFC3_ENST00000562903.1_Splice_Site|KIFC3_ENST00000465878.2_Splice_Site		NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			9	1476	-		all_neural(199;0.224)						A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Splice_Site	SNP	ENST00000379655.4	37		CCDS10789.2	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382762	0.61845	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8355	0.88694	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIFC3	56361007	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	7.121000	0.77160	2.548000	0.85928	0.655000	0.94253	.		0.657	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550	Intron	18	48	0	0	0	1	0	18	48				
WIBG	84305	broad.mit.edu	37	12	56295745	56295745	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:56295745C>G	ENST00000408946.2	-	3	677	c.526G>C	c.(526-528)Gtc>Ctc	p.V176L	WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.V175L	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	176	eIF2A-like.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|exon-exon junction complex (GO:0035145)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGCTGGCTGACTTCCCCAGCC	0.542																																						ENST00000408946.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(526-528)Gtc>Ctc		within bgcn homolog (Drosophila)							170.0	173.0	172.0					12																	56295745		1965	4155	6120	SO:0001583	missense	84305				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding	g.chr12:56295745C>G	BC014976	CCDS41795.1, CCDS44916.1	12q13.2	2008-02-05				ENSG00000170473			30258	protein-coding gene	gene with protein product						12438415, 12483225	Standard	NM_032345		Approved	PYM	uc001sif.1	Q9BRP8	OTTHUMG00000170220	ENST00000408946.2:c.526G>C	12.37:g.56295745C>G	ENSP00000386156:p.Val176Leu					WIBG_ENST00000398213.4_Missense_Mutation_p.V175L|WIBG_ENST00000302533.6_5'UTR	p.V176L	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN			3	677	-			176			eIF2A-like.		B6ZDM5|Q8IXJ8|Q8N8E7	Missense_Mutation	SNP	ENST00000408946.2	37	c.526G>C	CCDS41795.1	.	.	.	.	.	.	.	.	.	.	C	3.904	-0.021355	0.07634	.	.	ENSG00000170473	ENST00000408946;ENST00000398213	T;T	0.27256	1.68;1.68	5.56	-0.263	0.12954	.	0.397041	0.26887	N	0.021988	T	0.10809	0.0264	N	0.13299	0.325	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33317	-0.9873	10	0.06757	T	0.87	.	9.3384	0.38065	0.0:0.481:0.0:0.519	.	176;175	Q9BRP8;Q9BRP8-2	WIBG_HUMAN;.	L	176;175	ENSP00000386156:V176L;ENSP00000381271:V175L	ENSP00000381271:V175L	V	-	1	0	WIBG	54582012	0.946000	0.32159	0.405000	0.26409	0.932000	0.56968	0.697000	0.25556	-0.189000	0.10482	0.563000	0.77884	GTC		0.542	WIBG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408079.1	NM_032345		11	314	0	0	0	1	0	11	314				
KIAA0319	9856	broad.mit.edu	37	6	24588916	24588916	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:24588916G>C	ENST00000378214.3	-	4	1423	c.899C>G	c.(898-900)aCa>aGa	p.T300R	KIAA0319_ENST00000543707.1_Missense_Mutation_p.T300R|KIAA0319_ENST00000535378.1_Missense_Mutation_p.T291R|KIAA0319_ENST00000430948.2_Missense_Mutation_p.T255R|KIAA0319_ENST00000537886.1_Missense_Mutation_p.T300R	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	300					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GCTGTGCTCTGTACTCCCCGG	0.582																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(871-873)aCa>aGa		KIAA0319							160.0	128.0	139.0					6																	24588916		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24588916G>C	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.899C>G	6.37:g.24588916G>C	ENSP00000367459:p.Thr300Arg					KIAA0319_ENST00000378214.3_Missense_Mutation_p.T300R|KIAA0319_ENST00000430948.2_Missense_Mutation_p.T255R|KIAA0319_ENST00000543707.1_Missense_Mutation_p.T300R|KIAA0319_ENST00000537886.1_Missense_Mutation_p.T300R	p.T291R	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			5	1514	-			300					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.872C>G	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	3.368	-0.128946	0.06753	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25	4.31	1.51	0.23008	.	0.732803	0.11992	N	0.509751	T	0.01489	0.0048	L	0.34521	1.04	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.002	B;B;B	0.12156	0.007;0.007;0.003	T	0.48896	-0.8994	10	0.10902	T	0.67	0.8721	5.7612	0.18201	0.1724:0.3189:0.5087:0.0	.	300;291;300	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	R	300;291;255;300;300	ENSP00000439700:T300R;ENSP00000442403:T291R;ENSP00000401086:T255R;ENSP00000367459:T300R;ENSP00000437656:T300R	ENSP00000367459:T300R	T	-	2	0	KIAA0319	24696895	0.010000	0.17322	0.000000	0.03702	0.002000	0.02628	1.151000	0.31651	0.101000	0.17610	-0.956000	0.02647	ACA		0.582	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		47	71	0	0	0	1	0	47	71				
WDR45	11152	broad.mit.edu	37	X	48935372	48935372	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:48935372C>A	ENST00000376372.3	-	4	346	c.165G>T	c.(163-165)gaG>gaT	p.E55D	WDR45_ENST00000396681.4_Missense_Mutation_p.E55D|WDR45_ENST00000376368.2_Missense_Mutation_p.E55D|WDR45_ENST00000356463.3_Missense_Mutation_p.E55D|WDR45_ENST00000322995.8_Missense_Mutation_p.E55D|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000473974.1_Missense_Mutation_p.E55D|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000465431.1_Intron|WDR45_ENST00000485908.1_Intron	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	55					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GGTGCAGCATCTCCACCAAGC	0.612																																						ENST00000356463.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						c.(163-165)gaG>gaT		WD repeat domain 45							57.0	34.0	42.0					X																	48935372		2202	4299	6501	SO:0001583	missense	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48935372C>A	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.165G>T	X.37:g.48935372C>A	ENSP00000365551:p.Glu55Asp					WDR45_ENST00000485908.1_Intron|WDR45_ENST00000322995.8_Missense_Mutation_p.E55D|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000396681.4_Missense_Mutation_p.E55D|WDR45_ENST00000376358.3_Intron|WDR45_ENST00000376372.3_Missense_Mutation_p.E55D|WDR45_ENST00000376368.2_Missense_Mutation_p.E55D|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000473974.1_Missense_Mutation_p.E55D	p.E55D	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN			5	603	-			55					A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	c.165G>T	CCDS35250.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.97|13.97	2.396451|2.396451	0.42512|0.42512	.|.	.|.	ENSG00000196998|ENSG00000196998	ENST00000367375|ENST00000376372;ENST00000322995;ENST00000356463;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000471338;ENST00000474053;ENST00000419567;ENST00000465382;ENST00000423215	.|T;T;T;T;T;T;T;T;T;T;T	.|0.79141	.|-0.51;-0.51;-1.24;-0.51;-1.24;-0.51;-1.24;-1.24;-1.24;-0.51;-1.24	3.61|3.61	2.7|2.7	0.31948|0.31948	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.155427	.|0.42294	.|D	.|0.000725	D|D	0.83362|0.83362	0.5238|0.5238	M|M	0.88570|0.88570	2.965|2.965	0.80722|0.80722	D|D	1|1	.|D;P;P;B;B	.|0.62365	.|0.991;0.469;0.604;0.374;0.148	.|P;B;B;B;B	.|0.54026	.|0.74;0.118;0.156;0.156;0.088	T|T	0.82676|0.82676	-0.0339|-0.0339	5|10	.|0.72032	.|D	.|0.01	-19.2501|-19.2501	5.6162|5.6162	0.17432|0.17432	0.0:0.6776:0.0:0.3224|0.0:0.6776:0.0:0.3224	.|.	.|55;55;55;55;55	.|B4DVH6;C9J471;Q9Y484-2;Q9Y484-3;Q9Y484	.|.;.;.;.;WIPI4_HUMAN	Y|D	12|55	.|ENSP00000365551:E55D;ENSP00000365543:E55D;ENSP00000348848:E55D;ENSP00000417211:E55D;ENSP00000365546:E55D;ENSP00000379913:E55D;ENSP00000418466:E55D;ENSP00000420728:E55D;ENSP00000393640:E55D;ENSP00000420534:E55D;ENSP00000397657:E55D	.|ENSP00000365543:E55D	D|E	-|-	1|3	0|2	WDR45|WDR45	48822316|48822316	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.188000|2.188000	0.42612|0.42612	0.823000|0.823000	0.34589|0.34589	0.529000|0.529000	0.55759|0.55759	GAT|GAG		0.612	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		6	12	1	0	0.00116845	1	0.00121417	6	12				
GABRD	2563	broad.mit.edu	37	1	1961046	1961046	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:1961046C>G	ENST00000378585.4	+	8	987	c.904C>G	c.(904-906)Cca>Gca	p.P302A		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	302					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTCCTCCCTGCCACGGGCATC	0.607																																						ENST00000378585.4																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(904-906)Cca>Gca		gamma-aminobutyric acid (GABA) A receptor, delta							97.0	81.0	86.0					1																	1961046		2201	4300	6501	SO:0001583	missense	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1961046C>G	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.904C>G	1.37:g.1961046C>G	ENSP00000367848:p.Pro302Ala						p.P302A	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	8	987	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	302					Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.904C>G	CCDS36.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076066	0.55646	.	.	ENSG00000187730	ENST00000378585	D	0.99376	-5.79	4.09	4.09	0.47781	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.99447	0.9804	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98258	1.0497	10	0.87932	D	0	-22.6937	15.8632	0.79040	0.0:1.0:0.0:0.0	.	302	O14764	GBRD_HUMAN	A	302	ENSP00000367848:P302A	ENSP00000367848:P302A	P	+	1	0	GABRD	1950906	1.000000	0.71417	0.794000	0.32065	0.515000	0.34225	5.665000	0.68052	2.297000	0.77311	0.561000	0.74099	CCA		0.607	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		28	26	0	0	0	1	0	28	26				
CSMD3	114788	broad.mit.edu	37	8	113293531	113293531	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:113293531C>T	ENST00000297405.5	-	59	9624	c.9380G>A	c.(9379-9381)cGa>cAa	p.R3127Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.R3057Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3087Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2958Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3127	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R3087L(1)|p.R3127L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCCATCAATTCGGAAGACTTT	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			2	Substitution - Missense(2)	p.R3087L(1)|p.R3127L(1)	endometrium(2)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(9379-9381)cGa>cAa		CUB and Sushi multiple domains 3							115.0	99.0	104.0					8																	113293531		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113293531C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9380G>A	8.37:g.113293531C>T	ENSP00000297405:p.Arg3127Gln	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.R3057Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3087Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2958Q	p.R3127Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			59	9624	-			3127			Sushi 23.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9380G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250342	0.80024	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.72	5.72	0.89469	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.66992	0.2846	L	0.31578	0.945	0.50632	D	0.999887	D;D;P	0.62365	0.989;0.991;0.473	P;P;B	0.61397	0.776;0.888;0.119	T	0.59080	-0.7521	10	0.14656	T	0.56	.	19.8765	0.96875	0.0:1.0:0.0:0.0	.	2958;3127;3087	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	3087;3127;2397;2958;3057	ENSP00000345799:R3087Q;ENSP00000297405:R3127Q;ENSP00000341558:R2397Q;ENSP00000412263:R2958Q;ENSP00000343124:R3057Q	ENSP00000297405:R3127Q	R	-	2	0	CSMD3	113362707	0.989000	0.36119	1.000000	0.80357	0.883000	0.51084	2.740000	0.47418	2.695000	0.91970	0.650000	0.86243	CGA		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		40	38	0	0	0	1	0	40	38				
ERICH3	127254	broad.mit.edu	37	1	75038820	75038820	+	Silent	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:75038820G>T	ENST00000326665.5	-	14	2792	c.2574C>A	c.(2572-2574)ccC>ccA	p.P858P	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		858	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTGTCCTATGGGGTCTGACC	0.532																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2572-2574)ccC>ccA		chromosome 1 open reading frame 173							139.0	136.0	137.0					1																	75038820		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75038820G>T																												ENST00000326665.5:c.2574C>A	1.37:g.75038820G>T						C1orf173_ENST00000433746.2_5'UTR	p.P858P	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2792	-			858			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.2574C>A	CCDS30755.1																																																																																				0.532	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			64	91	1	0	2.32099e-22	1	2.85446e-22	64	91				
SCN7A	6332	broad.mit.edu	37	2	167298231	167298231	+	Missense_Mutation	SNP	G	G	T	rs377740490		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:167298231G>T	ENST00000409855.1	-	14	1958	c.1832C>A	c.(1831-1833)cCa>cAa	p.P611Q		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	611					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CTGGAATGTTGGCCAATACTT	0.363																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(1831-1833)cCa>cAa		sodium channel, voltage-gated, type VII, alpha subunit							99.0	96.0	97.0					2																	167298231		1982	4186	6168	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167298231G>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1832C>A	2.37:g.167298231G>T	ENSP00000386796:p.Pro611Gln						p.P611Q	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			14	1958	-			611						Missense_Mutation	SNP	ENST00000409855.1	37	c.1832C>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583005	0.65992	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.98701	-5.08;-5.08	4.78	4.78	0.61160	Ion transport (1);	0.227351	0.30890	N	0.008664	D	0.98717	0.9569	L	0.61218	1.895	0.42093	D	0.991305	D	0.64830	0.994	D	0.65573	0.936	D	0.99612	1.0981	10	0.87932	D	0	.	15.6896	0.77439	0.0:0.0:1.0:0.0	.	611	Q01118	SCN7A_HUMAN	Q	611	ENSP00000386796:P611Q;ENSP00000413699:P611Q	ENSP00000259060:P611Q	P	-	2	0	SCN7A	167006477	1.000000	0.71417	0.997000	0.53966	0.657000	0.38888	6.501000	0.73691	2.646000	0.89796	0.585000	0.79938	CCA		0.363	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			30	31	1	0	1.30897e-18	1	1.57208e-18	30	31				
FAM46D	169966	broad.mit.edu	37	X	79698352	79698352	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:79698352T>C	ENST00000308293.5	+	3	553	c.314T>C	c.(313-315)cTa>cCa	p.L105P	FAM46D_ENST00000538312.1_Missense_Mutation_p.L105P	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	105										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						GATGCAGTTCTAGACTGTCTA	0.398																																						ENST00000538312.1																			0				kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(313-315)cTa>cCa		family with sequence similarity 46, member D							96.0	90.0	92.0					X																	79698352		2203	4299	6502	SO:0001583	missense	169966							g.chrX:79698352T>C	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.314T>C	X.37:g.79698352T>C	ENSP00000308575:p.Leu105Pro					FAM46D_ENST00000308293.5_Missense_Mutation_p.L105P	p.L105P	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN			5	648	+			105					B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	37	c.314T>C	CCDS14446.1	.	.	.	.	.	.	.	.	.	.	T	12.46	1.945852	0.34377	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.35605	1.3;1.3	4.27	4.27	0.50696	Domain of unknown function DUF1693 (1);	0.000000	0.64402	D	0.000006	T	0.62865	0.2463	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69453	-0.5141	10	0.87932	D	0	-8.9218	11.4724	0.50278	0.0:0.0:0.0:1.0	.	105	Q8NEK8	FA46D_HUMAN	P	105	ENSP00000443410:L105P;ENSP00000308575:L105P	ENSP00000308575:L105P	L	+	2	0	FAM46D	79585008	1.000000	0.71417	0.819000	0.32651	0.166000	0.22503	7.534000	0.82004	1.579000	0.49836	0.437000	0.28790	CTA		0.398	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630		41	67	0	0	0	1	0	41	67				
KL	9365	broad.mit.edu	37	13	33591157	33591157	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:33591157C>G	ENST00000380099.3	+	1	587	c.579C>G	c.(577-579)caC>caG	p.H193Q	KL_ENST00000426690.2_Intron|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	193	Glycosyl hydrolase-1 1.		H -> R (in HFTC; impairs the ability to form a ternary complex with FGF23 and FGFR1c; impairs KL-dependent FGF23 signaling). {ECO:0000269|PubMed:17710231}.		acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCCTGTACCACTGGGACCTGC	0.731																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(577-579)caC>caG		klotho							7.0	8.0	8.0					13																	33591157		2023	3998	6021	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33591157C>G	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.579C>G	13.37:g.33591157C>G	ENSP00000369442:p.His193Gln					KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	p.H193Q	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	1	587	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	193		H -> R (in HFTC; impairs the ability to form a ternary complex with FGF23 and FGFR1c; impairs KL-dependent FGF23 signaling).	Glycosyl hydrolase-1 1.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.579C>G	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411632	0.62399	.	.	ENSG00000133116	ENST00000380099	T	0.61158	0.13	4.05	2.01	0.26516	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80199	0.4579	H	0.96365	3.81	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.79652	-0.1714	10	0.87932	D	0	-26.0102	8.0762	0.30718	0.0:0.7695:0.0:0.2305	.	193	Q9UEF7	KLOT_HUMAN	Q	193	ENSP00000369442:H193Q	ENSP00000369442:H193Q	H	+	3	2	KL	32489157	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.908000	0.39907	0.226000	0.20979	0.462000	0.41574	CAC		0.731	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			3	14	0	0	0	1	0	3	14				
KMT2C	58508	broad.mit.edu	37	7	151860476	151860476	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:151860476G>C	ENST00000262189.6	-	43	10404	c.10186C>G	c.(10186-10188)Caa>Gaa	p.Q3396E	KMT2C_ENST00000355193.2_Missense_Mutation_p.Q3396E	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3396	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCCCGTTCTTGAAAACTTTCA	0.468																																						ENST00000355193.2																			0											c.(10186-10188)Caa>Gaa		lysine (K)-specific methyltransferase 2C							157.0	148.0	151.0					7																	151860476		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151860476G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10186C>G	7.37:g.151860476G>C	ENSP00000262189:p.Gln3396Glu					KMT2C_ENST00000262189.6_Missense_Mutation_p.Q3396E	p.Q3396E							43	10404	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.10186C>G	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.18|18.18	3.565678|3.565678	0.65651|0.65651	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	D;D|.	0.85411|.	-1.96;-1.98|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.000000|.	0.45126|.	D|.	0.000398|.	T|.	0.73697|.	0.3620|.	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D;D|.	0.67145|.	0.986;0.982;0.996|.	D;D;D|.	0.76071|.	0.965;0.968;0.987|.	T|.	0.71941|.	-0.4440|.	10|.	0.66056|.	D|.	0.02|.	.|.	18.9329|18.9329	0.92574|0.92574	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3396;2457;3396|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	E|X	3396|901	ENSP00000262189:Q3396E;ENSP00000347325:Q3396E|.	ENSP00000262189:Q3396E|.	Q|S	-|-	1|2	0|0	MLL3|MLL3	151491409|151491409	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.864000|9.864000	0.99589|0.99589	2.465000|2.465000	0.83290|0.83290	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			38	147	0	0	0	1	0	38	147				
ZNF668	79759	broad.mit.edu	37	16	31075521	31075521	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:31075521G>C	ENST00000538906.1	-	2	1044	c.260C>G	c.(259-261)cCg>cGg	p.P87R	ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000300849.4_Missense_Mutation_p.P87R|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000394983.2_Missense_Mutation_p.P87R|ZNF668_ENST00000539836.3_Missense_Mutation_p.P110R|ZNF668_ENST00000426488.2_Missense_Mutation_p.P110R|ZNF668_ENST00000535577.1_Missense_Mutation_p.P87R	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	87					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(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGGGCATAGCGGACACGCATA	0.677																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(259-261)cCg>cGg		zinc finger protein 668							77.0	67.0	71.0					16																	31075521		2197	4300	6497	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31075521G>C		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.260C>G	16.37:g.31075521G>C	ENSP00000440149:p.Pro87Arg					ZNF668_ENST00000539836.3_Missense_Mutation_p.P110R|ZNF668_ENST00000535577.1_Missense_Mutation_p.P87R|ZNF668_ENST00000394983.2_Missense_Mutation_p.P87R|ZNF668_ENST00000300849.4_Missense_Mutation_p.P87R|ZNF668_ENST00000426488.2_Missense_Mutation_p.P110R	p.P87R	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			2	1044	-			87					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.260C>G	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	G	9.945	1.218595	0.22373	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849;ENST00000442862;ENST00000417935	T;T;T;T;T;T;T	0.33865	2.42;2.42;2.42;2.42;2.42;1.39;1.6	4.94	3.99	0.46301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.401871	0.25481	N	0.030375	T	0.17704	0.0425	N	0.14661	0.345	0.21020	N	0.999801	B	0.27013	0.166	B	0.20384	0.029	T	0.09335	-1.0679	10	0.44086	T	0.13	-15.4412	3.9599	0.09405	0.088:0.1585:0.5899:0.1636	.	87	Q96K58	ZN668_HUMAN	R	110;87;87;87;87;87;87	ENSP00000442573:P110R;ENSP00000441349:P87R;ENSP00000440149:P87R;ENSP00000378434:P87R;ENSP00000300849:P87R;ENSP00000416853:P87R;ENSP00000390671:P87R	ENSP00000300849:P87R	P	-	2	0	ZNF668	30983022	0.564000	0.26602	0.345000	0.25642	0.613000	0.37349	1.276000	0.33156	1.308000	0.44962	0.462000	0.41574	CCG		0.677	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		8	68	0	0	0	1	0	8	68				
OR2M3	127062	broad.mit.edu	37	1	248366917	248366917	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:248366917C>G	ENST00000456743.1	+	1	586	c.548C>G	c.(547-549)tCc>tGc	p.S183C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GACTTCCCCTCCCTACTAATC	0.413																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(547-549)tCc>tGc		olfactory receptor, family 2, subfamily M, member 3							230.0	224.0	226.0					1																	248366917		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366917C>G		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.548C>G	1.37:g.248366917C>G	ENSP00000389625:p.Ser183Cys						p.S183C	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	586	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		183					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.548C>G	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	c	12.13	1.844276	0.32606	.	.	ENSG00000228198	ENST00000456743	T	0.00152	8.66	2.55	1.6	0.23607	GPCR, rhodopsin-like superfamily (1);	0.603304	0.12596	U	0.455178	T	0.00271	0.0008	L	0.52266	1.64	0.09310	N	1	P	0.41366	0.747	P	0.59115	0.852	T	0.44065	-0.9352	10	0.87932	D	0	.	5.1961	0.15239	0.2551:0.6199:0.0:0.125	.	183	Q8NG83	OR2M3_HUMAN	C	183	ENSP00000389625:S183C	ENSP00000389625:S183C	S	+	2	0	OR2M3	246433540	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	1.033000	0.30191	0.393000	0.25203	0.405000	0.27470	TCC		0.413	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		5	278	0	0	0	1	0	5	278				
AGAP1	116987	broad.mit.edu	37	2	236659080	236659080	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:236659080C>T	ENST00000304032.8	+	6	1201	c.621C>T	c.(619-621)taC>taT	p.Y207Y	AGAP1_ENST00000428334.2_Silent_p.Y46Y|AGAP1_ENST00000336665.5_Silent_p.Y207Y|AGAP1_ENST00000409457.1_Silent_p.Y207Y|AGAP1_ENST00000409538.1_Silent_p.Y472Y	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	207	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GGTGCACGTACTACGAGACGT	0.527																																						ENST00000409538.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1414-1416)taC>taT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							257.0	208.0	224.0					2																	236659080		2203	4300	6503	SO:0001819	synonymous_variant	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236659080C>T	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.621C>T	2.37:g.236659080C>T						AGAP1_ENST00000409457.1_Silent_p.Y207Y|AGAP1_ENST00000304032.7_Silent_p.Y207Y|AGAP1_ENST00000428334.2_Silent_p.Y46Y|AGAP1_ENST00000336665.5_Silent_p.Y207Y	p.Y472Y			Q9UPQ3	AGAP1_HUMAN			6	1912	+			207			PH.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	ENST00000304032.8	37	c.1416C>T	CCDS33408.1																																																																																				0.527	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		47	97	0	0	0	1	0	47	97				
RTF1	23168	broad.mit.edu	37	15	41750044	41750044	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:41750044G>C	ENST00000389629.4	+	4	644	c.632G>C	c.(631-633)cGc>cCc	p.R211P		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	211	Glu-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CTGTTCAATCGCATAGAGAAG	0.502																																						ENST00000389629.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(631-633)cGc>cCc		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							141.0	140.0	140.0					15																	41750044		2203	4300	6503	SO:0001583	missense	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41750044G>C	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.632G>C	15.37:g.41750044G>C	ENSP00000374280:p.Arg211Pro						p.R211P	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	4	644	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	211			Glu-rich.		Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	c.632G>C	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	G	32	5.156293	0.94686	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.75852	0.3906	M	0.81341	2.54	0.80722	D	1	D	0.57257	0.979	P	0.52217	0.693	T	0.79564	-0.1751	9	0.87932	D	0	-0.9363	19.7706	0.96363	0.0:0.0:1.0:0.0	.	211	Q92541	RTF1_HUMAN	P	211	.	ENSP00000374280:R211P	R	+	2	0	RTF1	39537336	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.697000	0.92050	0.655000	0.94253	CGC		0.502	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		10	80	0	0	0	1	0	10	80				
DDRGK1	65992	broad.mit.edu	37	20	3171381	3171381	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:3171381C>T	ENST00000354488.3	-	9	920	c.863G>A	c.(862-864)cGg>cAg	p.R288Q	DDRGK1_ENST00000496781.1_5'UTR	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	288						endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						GATGGACACCCGGCCCCGCTG	0.647																																						ENST00000354488.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						c.(862-864)cGg>cAg		DDRGK domain containing 1							42.0	50.0	47.0					20																	3171381		2203	4300	6503	SO:0001583	missense	65992					endoplasmic reticulum	protein binding	g.chr20:3171381C>T	AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"""Dashurin"""		"""chromosome 20 open reading frame 116"""	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.863G>A	20.37:g.3171381C>T	ENSP00000346483:p.Arg288Gln					DDRGK1_ENST00000496781.1_5'UTR	p.R288Q	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN			9	920	-			288					A6NIU5|C9JSZ5|Q9BW47	Missense_Mutation	SNP	ENST00000354488.3	37	c.863G>A	CCDS13050.1	.	.	.	.	.	.	.	.	.	.	C	35	5.564789	0.96527	.	.	ENSG00000198171	ENST00000354488	T	0.68903	-0.36	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.84737	0.5538	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87859	0.2663	10	0.87932	D	0	-19.0463	15.8004	0.78450	0.0:1.0:0.0:0.0	.	288	Q96HY6	DDRGK_HUMAN	Q	288	ENSP00000346483:R288Q	ENSP00000346483:R288Q	R	-	2	0	DDRGK1	3119381	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.984000	0.76186	2.584000	0.87258	0.561000	0.74099	CGG		0.647	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077709.2	NM_023935		6	42	0	0	0	1	0	6	42				
UGT2B4	7363	broad.mit.edu	37	4	70350984	70350984	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:70350984G>T	ENST00000305107.6	-	5	1298	c.1252C>A	c.(1252-1254)Cac>Aac	p.H418N	UGT2B4_ENST00000381096.3_Missense_Mutation_p.H282N|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	418					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	GACATTGTGTGGAAGTCCAAA	0.413																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(1252-1254)Cac>Aac		UDP glucuronosyltransferase 2 family, polypeptide B4							217.0	212.0	214.0					4																	70350984		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70350984G>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1252C>A	4.37:g.70350984G>T	ENSP00000305221:p.His418Asn					UGT2B4_ENST00000381096.3_Missense_Mutation_p.H282N|UGT2B4_ENST00000512583.1_Intron|UGT2B4_ENST00000506580.1_Intron	p.H418N	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			5	1298	-			418					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.1252C>A	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	0.118	-1.129285	0.01756	.	.	ENSG00000156096	ENST00000305107;ENST00000381096	T;T	0.58940	0.3;0.3	1.96	-3.92	0.04155	.	0.772493	0.10825	N	0.629999	T	0.24736	0.0600	N	0.02697	-0.525	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.10359	-1.0633	10	0.21540	T	0.41	.	5.4356	0.16480	0.0:0.2217:0.4397:0.3385	.	282;418	A6NCP7;P06133	.;UD2B4_HUMAN	N	418;282	ENSP00000305221:H418N;ENSP00000370486:H282N	ENSP00000305221:H418N	H	-	1	0	UGT2B4	70385573	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.598000	0.00894	-2.170000	0.00776	-1.999000	0.00445	CAC		0.413	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		81	119	1	0	2.96794e-49	1	3.75974e-49	81	119				
TOMM40L	84134	broad.mit.edu	37	1	161198034	161198034	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:161198034G>A	ENST00000367988.3	+	7	812	c.543G>A	c.(541-543)gaG>gaA	p.E181E	NR1I3_ENST00000479324.1_5'Flank|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000545897.1_Silent_p.E147E|MIR5187_ENST00000583479.1_RNA|TOMM40L_ENST00000367987.1_Silent_p.E181E	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	181					ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGGGAGGAGAGCTAGTTTATC	0.582											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367988.3																			0				large_intestine(2)|liver(4)|lung(4)	10						c.(541-543)gaG>gaA		translocase of outer mitochondrial membrane 40 homolog (yeast)-like							42.0	41.0	41.0					1																	161198034		2203	4300	6503	SO:0001819	synonymous_variant	84134				protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity	g.chr1:161198034G>A		CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"""translocase of outer mitochondrial membrane 40 homolog-like (yeast)"""				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.543G>A	1.37:g.161198034G>A			OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1814	TOMM40L_ENST00000367987.1_Silent_p.E181E|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000545897.1_Silent_p.E147E	p.E181E	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	812	+	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		181					B7Z4U0|D3DVG9	Silent	SNP	ENST00000367988.3	37	c.543G>A	CCDS1227.1																																																																																				0.582	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083029.1	NM_032174		15	34	0	0	0	1	0	15	34				
CACNA1E	777	broad.mit.edu	37	1	181686385	181686385	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:181686385C>G	ENST00000367573.2	+	11	1472	c.1472C>G	c.(1471-1473)gCc>gGc	p.A491G	CACNA1E_ENST00000360108.3_Missense_Mutation_p.A491G|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A491G|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A442G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A442G|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A98G|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A491G	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	491					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTCAACACTGCCTGTGTGGCC	0.542																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1471-1473)gCc>gGc		calcium channel, voltage-dependent, R type, alpha 1E subunit							97.0	100.0	99.0					1																	181686385		2014	4179	6193	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181686385C>G	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1472C>G	1.37:g.181686385C>G	ENSP00000356545:p.Ala491Gly					CACNA1E_ENST00000367567.4_Missense_Mutation_p.A98G|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A491G|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A491G|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A442G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A442G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A491G	p.A491G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			11	1637	+			491					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.1472C>G	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580014	0.65992	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41	5.32	5.32	0.75619	.	0.457717	0.25222	N	0.032222	D	0.91479	0.7310	N	0.05050	-0.12	0.36825	D	0.8866	P;P	0.40476	0.718;0.718	B;B	0.38500	0.275;0.275	D	0.93785	0.7087	10	0.87932	D	0	.	12.3515	0.55151	0.0:0.9218:0.0:0.0782	.	491;491	Q15878-2;Q15878-3	.;.	G	491;491;442;442;98;491;491	ENSP00000356542:A491G;ENSP00000434814:A491G;ENSP00000350183:A442G;ENSP00000351101:A442G;ENSP00000356539:A98G;ENSP00000353222:A491G;ENSP00000356545:A491G	ENSP00000350183:A442G	A	+	2	0	CACNA1E	179953008	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.793000	0.69060	2.633000	0.89246	0.655000	0.94253	GCC		0.542	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		7	85	0	0	0	1	0	7	85				
KCNJ3	3760	broad.mit.edu	37	2	155555414	155555414	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:155555414C>T	ENST00000295101.2	+	1	604	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	KCNJ3_ENST00000544049.1_Missense_Mutation_p.R43W|AC061961.2_ENST00000443901.1_RNA	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	43					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CAAGAAGAAGCGGCAGCGGTT	0.632																																						ENST00000295101.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54						c.(127-129)Cgg>Tgg		potassium inwardly-rectifying channel, subfamily J, member 3	Halothane(DB01159)						41.0	45.0	44.0					2																	155555414		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155555414C>T	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.127C>T	2.37:g.155555414C>T	ENSP00000295101:p.Arg43Trp					KCNJ3_ENST00000544049.1_Missense_Mutation_p.R43W	p.R43W	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN			1	604	+			43					B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.127C>T	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261290	0.59431	.	.	ENSG00000162989	ENST00000295101;ENST00000544049	D;D	0.92911	-2.72;-3.13	4.92	4.92	0.64577	.	0.114072	0.56097	D	0.000025	D	0.92721	0.7686	L	0.32530	0.975	0.58432	D	0.999996	D;D	0.89917	0.999;1.0	D;D	0.71414	0.952;0.973	D	0.93181	0.6574	10	0.87932	D	0	.	11.8726	0.52529	0.1748:0.8252:0.0:0.0	.	43;43	B4DEW7;P48549	.;IRK3_HUMAN	W	43	ENSP00000295101:R43W;ENSP00000438410:R43W	ENSP00000295101:R43W	R	+	1	2	KCNJ3	155263660	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.096000	0.41738	2.287000	0.76781	0.555000	0.69702	CGG		0.632	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		6	64	0	0	0	1	0	6	64				
MOG	4340	broad.mit.edu	37	6	29640516	29640516	+	IGR	SNP	G	G	A	rs79020217		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:29640516G>A	ENST00000376917.3	+	0	2160				ZFP57_ENST00000488757.1_Missense_Mutation_p.H458Y|ZFP57_ENST00000376881.3_Missense_Mutation_p.H438Y|ZFP57_ENST00000376883.1_Missense_Mutation_p.H438Y	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CCCCTCCAGTGATCCATAAGG	0.562																																						ENST00000376883.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44	GRCh37	CM083211	ZFP57	M	rs79020217	c.(1312-1314)Cac>Tac		ZFP57 zinc finger protein							85.0	87.0	86.0					6																	29640516		1226	2554	3780	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29640516G>A		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640516G>A						ZFP57_ENST00000376881.3_Missense_Mutation_p.H438Y|ZFP57_ENST00000488757.1_Missense_Mutation_p.H458Y	p.H438Y			Q9NU63	ZFP57_HUMAN			6	1723	-			374					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.1312C>T	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938463	0.52972	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.35048	1.33;1.33;1.33	4.53	4.53	0.55603	.	0.000000	0.43919	D	0.000504	T	0.66157	0.2761	H	0.96720	3.87	0.35472	D	0.797465	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.78252	-0.2276	10	0.87932	D	0	-25.432	12.9475	0.58382	0.0:0.0:1.0:0.0	.	458;438	Q9NU63-3;Q9NU63-2	.;.	Y	458;438;438	ENSP00000418259:H458Y;ENSP00000366078:H438Y;ENSP00000366080:H438Y	ENSP00000366078:H438Y	H	-	1	0	ZFP57	29748495	1.000000	0.71417	0.979000	0.43373	0.072000	0.16883	4.463000	0.60128	2.507000	0.84556	0.462000	0.41574	CAC		0.562	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		24	50	0	0	0	1	0	24	50				
DCHS1	8642	broad.mit.edu	37	11	6653622	6653622	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:6653622C>G	ENST00000299441.3	-	6	3532	c.3121G>C	c.(3121-3123)Gca>Cca	p.A1041P	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1041	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCTACTTGCTCCCTCTGCT	0.602																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(3121-3123)Gca>Cca		dachsous cadherin-related 1							55.0	53.0	54.0					11																	6653622		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6653622C>G	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3121G>C	11.37:g.6653622C>G	ENSP00000299441:p.Ala1041Pro					RP11-732A19.6_ENST00000526633.1_RNA	p.A1041P	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	3532	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1041			Cadherin 10.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.3121G>C	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	9.966	1.224136	0.22457	.	.	ENSG00000166341	ENST00000299441	T	0.49432	0.78	4.51	1.58	0.23477	Cadherin (4);Cadherin-like (1);	0.306471	0.23342	N	0.049239	T	0.23846	0.0577	N	0.16130	0.375	0.31890	N	0.617299	B	0.02656	0.0	B	0.01281	0.0	T	0.10683	-1.0619	10	0.26408	T	0.33	.	4.4349	0.11545	0.1284:0.5757:0.2029:0.093	.	1041	Q96JQ0	PCD16_HUMAN	P	1041	ENSP00000299441:A1041P	ENSP00000299441:A1041P	A	-	1	0	DCHS1	6610198	0.982000	0.34865	0.979000	0.43373	0.937000	0.57800	1.109000	0.31135	0.246000	0.21394	-0.258000	0.10820	GCA		0.602	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		3	43	0	0	0	1	0	3	43				
PDHA2	5161	broad.mit.edu	37	4	96761859	96761859	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:96761859G>T	ENST00000295266.4	+	1	621	c.558G>T	c.(556-558)gaG>gaT	p.E186D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	186					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GAAACGATGAGATCTGTTTGA	0.483																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(556-558)gaG>gaT		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						63.0	67.0	66.0					4																	96761859		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761859G>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.558G>T	4.37:g.96761859G>T	ENSP00000295266:p.Glu186Asp						p.E186D	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	621	+		Hepatocellular(203;0.114)	186					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.558G>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	7.477	0.647828	0.14516	.	.	ENSG00000163114	ENST00000295266	D	0.96011	-3.88	4.77	-1.5	0.08691	Dehydrogenase, E1 component (1);	0.108661	0.64402	D	0.000008	D	0.89784	0.6815	L	0.38692	1.165	0.22292	N	0.999227	B	0.27013	0.166	B	0.31191	0.125	T	0.80518	-0.1347	10	0.38643	T	0.18	-23.425	6.1888	0.20512	0.2341:0.3737:0.3922:0.0	.	186	P29803	ODPAT_HUMAN	D	186	ENSP00000295266:E186D	ENSP00000295266:E186D	E	+	3	2	PDHA2	96980882	0.886000	0.30341	0.000000	0.03702	0.217000	0.24651	1.090000	0.30902	-0.472000	0.06881	0.467000	0.42956	GAG		0.483	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			32	49	1	0	3.99451e-17	1	4.74969e-17	32	49				
WWC3	55841	broad.mit.edu	37	X	10109515	10109515	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:10109515C>G	ENST00000380861.4	+	23	3644	c.3253C>G	c.(3253-3255)Cct>Gct	p.P1085A	WWC3_ENST00000454666.1_Missense_Mutation_p.P1085A	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	1085					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GATCAACATACCTCCTCTCCC	0.458																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(3253-3255)Cct>Gct		WWC family member 3							142.0	104.0	117.0					X																	10109515		2203	4300	6503	SO:0001583	missense	55841							g.chrX:10109515C>G	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.3253C>G	X.37:g.10109515C>G	ENSP00000370242:p.Pro1085Ala					WWC3_ENST00000454666.1_Missense_Mutation_p.P1085A	p.P1085A	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			23	3644	+			1085					A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.3253C>G	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351379	0.82132	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.71103	-0.54;-0.54	5.54	4.67	0.58626	.	0.050250	0.85682	D	0.000000	T	0.80747	0.4682	M	0.81802	2.56	0.58432	D	0.999999	P	0.51147	0.942	P	0.54346	0.749	T	0.82067	-0.0641	9	.	.	.	-3.3552	15.0883	0.72174	0.1427:0.8573:0.0:0.0	.	1085	Q9ULE0	WWC3_HUMAN	A	1085;1085;580	ENSP00000370242:P1085A;ENSP00000399584:P1085A	.	P	+	1	0	WWC3	10069515	1.000000	0.71417	0.988000	0.46212	0.938000	0.57974	7.405000	0.80007	1.113000	0.41760	0.529000	0.55759	CCT		0.458	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		4	53	0	0	0	1	0	4	53				
ZFAND1	79752	broad.mit.edu	37	8	82615267	82615267	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:82615267C>T	ENST00000220669.5	-	7	591	c.573G>A	c.(571-573)aaG>aaA	p.K191K	ZFAND1_ENST00000521287.1_Silent_p.K84K|ZFAND1_ENST00000519523.1_Silent_p.K191K|ZFAND1_ENST00000523096.1_Silent_p.K184K|ZFAND1_ENST00000519338.1_5'UTR|ZFAND1_ENST00000517588.1_Silent_p.K84K|ZFAND1_ENST00000522520.1_Silent_p.K84K|ZFAND1_ENST00000521895.1_Silent_p.K84K	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	191							zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AGTCTATGGCCTTTCCAATGC	0.343																																						ENST00000220669.5																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(571-573)aaG>aaA		zinc finger, AN1-type domain 1							31.0	26.0	28.0					8																	82615267		2202	4297	6499	SO:0001819	synonymous_variant	79752						zinc ion binding	g.chr8:82615267C>T		CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"""Zinc fingers, AN1-type domain containing"""	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.573G>A	8.37:g.82615267C>T						ZFAND1_ENST00000519338.1_5'UTR|ZFAND1_ENST00000517588.1_Silent_p.K84K|ZFAND1_ENST00000521287.1_Silent_p.K84K|ZFAND1_ENST00000522520.1_Silent_p.K84K|ZFAND1_ENST00000521895.1_Silent_p.K84K|ZFAND1_ENST00000523096.1_Silent_p.K184K|ZFAND1_ENST00000519523.1_Silent_p.K191K	p.K191K	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN			7	591	-			191					E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Silent	SNP	ENST00000220669.5	37	c.573G>A	CCDS6232.1																																																																																				0.343	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	NM_024699		16	8	0	0	0	1	0	16	8				
CEACAM6	4680	broad.mit.edu	37	19	42265998	42265998	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:42265998G>C	ENST00000199764.6	+	4	1043	c.825G>C	c.(823-825)ggG>ggC	p.G275G	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	275	Ig-like C2-type 2.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		TTATCAATGGGACGTTCCAGC	0.502																																						ENST00000199764.6																			0				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(823-825)ggG>ggC		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							135.0	121.0	126.0					19																	42265998		2203	4300	6503	SO:0001819	synonymous_variant	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42265998G>C	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.825G>C	19.37:g.42265998G>C						AC011513.4_ENST00000601409.1_RNA	p.G275G	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	4	1043	+			275			Ig-like C2-type 2.		Q13774|Q14920|Q53XP7	Silent	SNP	ENST00000199764.6	37	c.825G>C	CCDS12585.1																																																																																				0.502	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			5	95	0	0	0	1	0	5	95				
ZNF135	7694	broad.mit.edu	37	19	58579588	58579588	+	Missense_Mutation	SNP	G	G	C	rs376169950		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:58579588G>C	ENST00000313434.5	+	5	1837	c.1736G>C	c.(1735-1737)gGg>gCg	p.G579A	RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Missense_Mutation_p.G579A|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Missense_Mutation_p.G591A|ZNF135_ENST00000506786.1_Missense_Mutation_p.G537A|ZNF135_ENST00000401053.4_Missense_Mutation_p.G603A	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	579			G -> R (in dbSNP:rs2228279).		cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AAGCCGTATGGGTGCAATGAG	0.537																																						ENST00000506786.1																			0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(1609-1611)gGg>gCg		zinc finger protein 135		G	,,ALA/GLY,ALA/GLY	0,4406		0,0,2203	92.0	87.0	89.0		,,1772,1808	0.4	0.0	19		89	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,intron,missense,missense	ZNF135	NM_001164529.1,NM_001164530.1,NM_003436.3,NM_007134.1	,,60,60	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	,,probably-damaging,probably-damaging	,,591/671,603/683	58579588	1,13005	2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58579588G>C	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1736G>C	19.37:g.58579588G>C	ENSP00000321406:p.Gly579Ala					ZNF135_ENST00000511556.1_Missense_Mutation_p.G591A|ZNF135_ENST00000401053.4_Missense_Mutation_p.G603A|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Missense_Mutation_p.G579A|ZNF135_ENST00000439855.2_Missense_Mutation_p.G579A	p.G537A			B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	2164	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	591					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.1610G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.394|0.394	-0.921887|-0.921887	0.02396|0.02396	0.0|0.0	1.16E-4|1.16E-4	ENSG00000176293|ENSG00000176293	ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786|ENST00000391699	T;T;T;T;T|.	0.17054|.	2.3;2.3;2.3;2.3;2.3|.	2.68|2.68	0.438|0.438	0.16560|0.16560	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.08133|0.08133	0.0203|0.0203	N|N	0.00746|0.00746	-1.225|-1.225	0.09310|0.09310	N|N	1|1	B;B|.	0.28178|.	0.202;0.024|.	B;B|.	0.33846|.	0.171;0.038|.	T|T	0.21930|0.21930	-1.0231|-1.0231	9|6	0.45353|0.48119	T|T	0.12|0.1	.|.	3.9759|3.9759	0.09473|0.09473	0.243:0.3964:0.3606:0.0|0.243:0.3964:0.3606:0.0	.|.	591;579|.	E9PEV2;P52742|.	.;ZN135_HUMAN|.	A|R	603;579;579;591;537|597	ENSP00000441410:G603A;ENSP00000444828:G579A;ENSP00000321406:G579A;ENSP00000422074:G591A;ENSP00000427691:G537A|.	ENSP00000321406:G579A|ENSP00000375580:G597R	G|G	+|+	2|1	0|0	ZNF135|ZNF135	63271400|63271400	0.000000|0.000000	0.05858|0.05858	0.034000|0.034000	0.17996|0.17996	0.001000|0.001000	0.01503|0.01503	-0.732000|-0.732000	0.04904|0.04904	0.200000|0.200000	0.20447|0.20447	-0.384000|-0.384000	0.06662|0.06662	GGG|GGT		0.537	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		5	91	0	0	0	1	0	5	91				
IL1RAPL1	11141	broad.mit.edu	37	X	29938093	29938093	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:29938093G>A	ENST00000378993.1	+	8	1612	c.939G>A	c.(937-939)caG>caA	p.Q313Q	IL1RAPL1_ENST00000302196.4_Silent_p.Q313Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	313	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTGGGGAACAGGAAGTTTCCA	0.388																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(937-939)caG>caA		interleukin 1 receptor accessory protein-like 1							213.0	180.0	191.0					X																	29938093		2202	4300	6502	SO:0001819	synonymous_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29938093G>A	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.939G>A	X.37:g.29938093G>A						IL1RAPL1_ENST00000302196.4_Silent_p.Q313Q	p.Q313Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			8	1612	+			313			Ig-like C2-type 3.		A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	c.939G>A	CCDS14218.1																																																																																				0.388	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		46	81	0	0	0	1	0	46	81				
MRTO4	51154	broad.mit.edu	37	1	19584989	19584989	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:19584989C>G	ENST00000330263.4	+	7	809	c.512C>G	c.(511-513)tCt>tGt	p.S171C		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	171					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCTGCTGTCTGACTACGAG	0.637																																					GBM(192;2418 3032 7540 48714)	ENST00000330263.4																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8						c.(511-513)tCt>tGt		mRNA turnover 4 homolog (S. cerevisiae)							127.0	120.0	122.0					1																	19584989		2203	4300	6503	SO:0001583	missense	51154				ribosome biogenesis	nuclear membrane|nucleolus		g.chr1:19584989C>G	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 33"", ""MRT4, mRNA turnover 4, homolog (S. cerevisiae)"""	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.512C>G	1.37:g.19584989C>G	ENSP00000364320:p.Ser171Cys						p.S171C	NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	7	809	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	171					B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Missense_Mutation	SNP	ENST00000330263.4	37	c.512C>G	CCDS191.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524322	0.27299	.	.	ENSG00000053372	ENST00000330263	.	.	.	5.53	5.53	0.82687	.	0.103551	0.64402	D	0.000002	T	0.65450	0.2692	L	0.52823	1.66	0.54753	D	0.999985	B	0.17465	0.022	B	0.17979	0.02	T	0.61792	-0.6990	9	0.54805	T	0.06	-11.1399	18.3902	0.90479	0.0:1.0:0.0:0.0	.	171	Q9UKD2	MRT4_HUMAN	C	171	.	ENSP00000364320:S171C	S	+	2	0	MRTO4	19457576	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	5.651000	0.67951	2.750000	0.94351	0.591000	0.81541	TCT		0.637	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	NM_016183		5	141	0	0	0	1	0	5	141				
RDH10	157506	broad.mit.edu	37	8	74231360	74231360	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:74231360G>C	ENST00000240285.5	+	3	1233	c.555G>C	c.(553-555)ctG>ctC	p.L185L	RDH10_ENST00000519380.1_Silent_p.L20L|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	185					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			CTACGATGCTGGAGATTAATC	0.388																																						ENST00000240285.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(553-555)ctG>ctC		retinol dehydrogenase 10 (all-trans)							240.0	217.0	225.0					8																	74231360		2203	4300	6503	SO:0001819	synonymous_variant	157506				retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr8:74231360G>C	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.555G>C	8.37:g.74231360G>C						RDH10_ENST00000519380.1_Silent_p.L20L|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA	p.L185L	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		3	1233	+	Breast(64;0.0954)		185						Silent	SNP	ENST00000240285.5	37	c.555G>C	CCDS6213.1																																																																																				0.388	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1			5	193	0	0	0	1	0	5	193				
ACAN	176	broad.mit.edu	37	15	89398750	89398750	+	Silent	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:89398750T>A	ENST00000561243.1	+	11	2934	c.2934T>A	c.(2932-2934)tcT>tcA	p.S978S	ACAN_ENST00000352105.7_Silent_p.S978S|ACAN_ENST00000439576.2_Silent_p.S978S|ACAN_ENST00000559004.1_Silent_p.S978S			P16112	PGCA_HUMAN	aggrecan	977	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCTTCCTTCTGGAGAAGTTC	0.552																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(2932-2934)tcT>tcA		aggrecan							124.0	125.0	125.0					15																	89398750		1819	4084	5903	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398750T>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2934T>A	15.37:g.89398750T>A						ACAN_ENST00000561243.1_Silent_p.S978S|ACAN_ENST00000559004.1_Silent_p.S978S|ACAN_ENST00000352105.7_Silent_p.S978S	p.S978S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	3308	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		978					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.2934T>A	CCDS53970.1																																																																																				0.552	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		84	163	0	0	0	1	0	84	163				
GABRG2	2566	broad.mit.edu	37	5	161524859	161524859	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:161524859C>A	ENST00000361925.4	+	4	763	c.543C>A	c.(541-543)acC>acA	p.T181T	GABRG2_ENST00000356592.3_Silent_p.T181T|GABRG2_ENST00000414552.2_Silent_p.T181T|GABRG2_ENST00000393933.4_Silent_p.T86T			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	181				T -> S (in Ref. 1; CAA33437). {ECO:0000305}.	adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTCTACACCCTAAGGTATT	0.373																																						ENST00000356592.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(541-543)acC>acA		gamma-aminobutyric acid (GABA) A receptor, gamma 2							72.0	73.0	73.0					5																	161524859		2203	4300	6503	SO:0001819	synonymous_variant	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161524859C>A		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.543C>A	5.37:g.161524859C>A						GABRG2_ENST00000414552.2_Silent_p.T181T|GABRG2_ENST00000361925.4_Silent_p.T181T|GABRG2_ENST00000393933.4_Silent_p.T86T	p.T181T	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	4	1003	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	181	T -> S (in Ref. 1; CAA33437).				F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	ENST00000361925.4	37	c.543C>A	CCDS4358.1																																																																																				0.373	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			29	66	1	0	7.01153e-11	1	7.87973e-11	29	66				
KIAA1210	57481	broad.mit.edu	37	X	118221721	118221721	+	Missense_Mutation	SNP	C	C	G	rs181240628		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:118221721C>G	ENST00000402510.2	-	11	3471	c.3472G>C	c.(3472-3474)Gct>Cct	p.A1158P		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1158										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AACTGGGTAGCATATTGGGGA	0.473													C|||	1	0.000264901	0.0008	0.0	3775	,	,		14586	0.0		0.0	False		,,,				2504	0.0					ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(3472-3474)Gct>Cct		KIAA1210							68.0	61.0	63.0					X																	118221721		1862	4089	5951	SO:0001583	missense	57481							g.chrX:118221721C>G	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3472G>C	X.37:g.118221721C>G	ENSP00000384670:p.Ala1158Pro						p.A1158P	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			11	3471	-			1158					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.3472G>C	CCDS48156.1	1|1	6.027727546714888E-4|6.027727546714888E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	0.301|0.301	-0.973968|-0.973968	0.02215|0.02215	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	T|.	0.07567|.	3.18|.	4.43|4.43	-3.06|-3.06	0.05379|0.05379	.|.	.|.	.|.	.|.	.|.	T|T	0.07098|0.07098	0.0180|0.0180	N|N	0.00621|0.00621	-1.32|-1.32	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.35674|0.35674	-0.9779|-0.9779	9|5	0.16896|.	T|.	0.51|.	.|.	5.6679|5.6679	0.17704|0.17704	0.355:0.3963:0.2488:0.0|0.355:0.3963:0.2488:0.0	.|.	1158|.	Q9ULL0|.	K1210_HUMAN|.	P|S	1158|564	ENSP00000384670:A1158P|.	ENSP00000384670:A1158P|.	A|C	-|-	1|2	0|0	RP13-347D8.6|KIAA1210	118105749|118105749	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.378000|-0.378000	0.07446|0.07446	-0.948000|-0.948000	0.03668|0.03668	-0.200000|-0.200000	0.12747|0.12747	GCT|TGC		0.473	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		30	40	0	0	0	1	0	30	40				
OSBPL3	26031	broad.mit.edu	37	7	24888722	24888722	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:24888722G>C	ENST00000313367.2	-	12	1683	c.1232C>G	c.(1231-1233)cCc>cGc	p.P411R	OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000353930.1_Intron|OSBPL3_ENST00000396431.1_Missense_Mutation_p.P380R|OSBPL3_ENST00000352860.1_Missense_Mutation_p.P380R|OSBPL3_ENST00000396429.1_Intron	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	411					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GGCGACAGCGGGGGAGTCGAG	0.557																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(1231-1233)cCc>cGc		oxysterol binding protein-like 3							204.0	190.0	195.0					7																	24888722		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24888722G>C	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1232C>G	7.37:g.24888722G>C	ENSP00000315410:p.Pro411Arg					OSBPL3_ENST00000353930.1_Intron|OSBPL3_ENST00000352860.1_Missense_Mutation_p.P380R|OSBPL3_ENST00000396431.1_Missense_Mutation_p.P380R|OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000396429.1_Intron|OSBPL3_ENST00000431825.2_Intron	p.P411R	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			12	1683	-			411					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.1232C>G	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024147	0.35701	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000396431	T;T;T	0.42900	2.28;0.96;0.96	5.69	4.81	0.61882	.	0.333481	0.35838	N	0.002950	T	0.31544	0.0800	L	0.29908	0.895	0.80722	D	1	B;B	0.25809	0.135;0.047	B;B	0.27608	0.081;0.037	T	0.07028	-1.0794	10	0.21540	T	0.41	-11.682	13.2085	0.59811	0.0741:0.0:0.9259:0.0	.	380;411	Q9H4L5-2;Q9H4L5	.;OSBL3_HUMAN	R	411;380;380	ENSP00000315410:P411R;ENSP00000315331:P380R;ENSP00000379708:P380R	ENSP00000315410:P411R	P	-	2	0	OSBPL3	24855247	1.000000	0.71417	0.893000	0.35052	0.966000	0.64601	4.711000	0.61881	1.392000	0.46585	0.655000	0.94253	CCC		0.557	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			4	124	0	0	0	1	0	4	124				
KCNK13	56659	broad.mit.edu	37	14	90651011	90651011	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:90651011G>C	ENST00000282146.4	+	2	1332	c.891G>C	c.(889-891)ggG>ggC	p.G297G		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	297					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.G297G(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TGGACAGCGGGTGCTGCCCGC	0.537																																						ENST00000282146.4																			1	Substitution - coding silent(1)	p.G297G(1)	lung(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(889-891)ggG>ggC		potassium channel, subfamily K, member 13							73.0	79.0	77.0					14																	90651011		2203	4300	6503	SO:0001819	synonymous_variant	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90651011G>C	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.891G>C	14.37:g.90651011G>C							p.G297G	NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN			2	1332	+		all_cancers(154;0.186)	297					B5TJL8|Q96E79	Silent	SNP	ENST00000282146.4	37	c.891G>C	CCDS9889.1																																																																																				0.537	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		19	83	0	0	0	1	0	19	83				
PLPPR4	9890	broad.mit.edu	37	1	99762359	99762359	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:99762359G>T	ENST00000370185.3	+	3	971	c.474G>T	c.(472-474)gaG>gaT	p.E158D	LPPR4_ENST00000457765.1_Missense_Mutation_p.E158D|LPPR4_ENST00000370184.1_5'Flank	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		158					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCGGACTAGAGCCCAACATTA	0.458																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(472-474)gaG>gaT									88.0	94.0	92.0					1																	99762359		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99762359G>T																												ENST00000370185.3:c.474G>T	1.37:g.99762359G>T	ENSP00000359204:p.Glu158Asp					LPPR4_ENST00000457765.1_Missense_Mutation_p.E158D	p.E158D	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	3	971	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	158					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.474G>T	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143638	0.57044	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178	T;T	0.52754	0.65;0.65	5.58	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	M	0.83483	2.645	0.42923	D	0.994292	B;D	0.71674	0.004;0.998	B;D	0.72625	0.007;0.978	T	0.62737	-0.6791	10	0.62326	D	0.03	-31.0928	8.7213	0.34443	0.3476:0.0:0.6524:0.0	.	158;158	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	D	158	ENSP00000359204:E158D;ENSP00000394913:E158D	ENSP00000263178:E158D	E	+	3	2	RP4-788L13.1	99534947	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	1.809000	0.38922	0.748000	0.32831	-0.136000	0.14681	GAG		0.458	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			31	57	1	0	3.99451e-17	1	4.74969e-17	31	57				
OR4C6	219432	broad.mit.edu	37	11	55433331	55433331	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:55433331G>A	ENST00000314259.3	+	1	718	c.689G>A	c.(688-690)gGg>gAg	p.G230E		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						AGCTCTAAAGGGCGGCACAAA	0.498																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(688-690)gGg>gAg		olfactory receptor, family 4, subfamily C, member 6							132.0	126.0	128.0					11																	55433331		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433331G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.689G>A	11.37:g.55433331G>A	ENSP00000324769:p.Gly230Glu						p.G230E	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	718	+			230					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.689G>A	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	3.505	-0.100907	0.06967	.	.	ENSG00000181903	ENST00000314259	T	0.00287	8.29	4.07	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38778	N	0.001577	T	0.00468	0.0015	M	0.88310	2.945	0.09310	N	1	B	0.23650	0.089	B	0.39935	0.314	T	0.18335	-1.0340	10	0.66056	D	0.02	.	9.0732	0.36504	0.1881:0.0:0.8119:0.0	.	230	Q8NH72	OR4C6_HUMAN	E	230	ENSP00000324769:G230E	ENSP00000324769:G230E	G	+	2	0	OR4C6	55189907	0.267000	0.24122	0.000000	0.03702	0.006000	0.05464	0.785000	0.26830	0.216000	0.20781	-0.243000	0.11985	GGG		0.498	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		54	63	0	0	0	1	0	54	63				
SIPA1L1	26037	broad.mit.edu	37	14	72137877	72137877	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:72137877C>G	ENST00000555818.1	+	8	2645	c.2297C>G	c.(2296-2298)cCt>cGt	p.P766R	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P766R|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.P241R|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P766R	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	766	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCCTTTGGGCCTCCCATTCCT	0.458																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(2296-2298)cCt>cGt		signal-induced proliferation-associated 1 like 1							238.0	228.0	231.0					14																	72137877		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72137877C>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2297C>G	14.37:g.72137877C>G	ENSP00000450832:p.Pro766Arg					SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P766R|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P766R|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.P241R	p.P766R	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	8	2645	+			766			Rap-GAP.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.2297C>G	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472057	0.84533	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49	5.76	5.76	0.90799	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.99366	0.9777	H	0.98466	4.24	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999	D	0.98429	1.0581	10	0.87932	D	0	-17.4131	19.9576	0.97228	0.0:1.0:0.0:0.0	.	241;766;241;766;766	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	R	766;766;766;241	ENSP00000370630:P766R;ENSP00000450832:P766R;ENSP00000351352:P766R;ENSP00000440682:P241R	ENSP00000351352:P766R	P	+	2	0	SIPA1L1	71207630	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.792000	0.85828	2.736000	0.93811	0.655000	0.94253	CCT		0.458	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		6	231	0	0	0	1	0	6	231				
PDCD10	11235	broad.mit.edu	37	3	167414881	167414881	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:167414881T>C	ENST00000392750.2	-	5	601	c.184A>G	c.(184-186)Atc>Gtc	p.I62V	PDCD10_ENST00000492396.1_5'UTR|PDCD10_ENST00000487947.2_Missense_Mutation_p.I62V|PDCD10_ENST00000470131.1_Missense_Mutation_p.I62V|PDCD10_ENST00000497056.2_Missense_Mutation_p.I62V|PDCD10_ENST00000473645.2_Missense_Mutation_p.I62V|PDCD10_ENST00000471885.1_Missense_Mutation_p.I62V|PDCD10_ENST00000461494.1_Missense_Mutation_p.I62V	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	62					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TTCATAATGATGTCTTGTGTG	0.343																																						ENST00000392750.2																			0				central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						c.(184-186)Atc>Gtc		programmed cell death 10							94.0	97.0	96.0					3																	167414881		2203	4300	6503	SO:0001583	missense	11235				angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding	g.chr3:167414881T>C	AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"""cerebral cavernous malformations 3"""	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.184A>G	3.37:g.167414881T>C	ENSP00000376506:p.Ile62Val					PDCD10_ENST00000471885.1_Missense_Mutation_p.I62V|PDCD10_ENST00000470131.1_Missense_Mutation_p.I62V|PDCD10_ENST00000487947.2_Missense_Mutation_p.I62V|PDCD10_ENST00000497056.2_Missense_Mutation_p.I62V|PDCD10_ENST00000461494.1_Missense_Mutation_p.I62V|PDCD10_ENST00000492396.1_5'UTR|PDCD10_ENST00000473645.2_Missense_Mutation_p.I62V	p.I62V	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN			5	601	-			62					A8K515|D3DNN5|O14811	Missense_Mutation	SNP	ENST00000392750.2	37	c.184A>G	CCDS3202.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.30|16.30	3.084527|3.084527	0.55861|0.55861	.|.	.|.	ENSG00000114209|ENSG00000114209	ENST00000479121|ENST00000392750;ENST00000473645;ENST00000497056;ENST00000461494;ENST00000470131;ENST00000475915;ENST00000487947;ENST00000471885;ENST00000462725;ENST00000492139;ENST00000464360	.|T;T;T;T;T;T;T;T;T;T;T	.|0.44482	.|0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.29288|0.29288	0.0729|0.0729	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.08055	.|0.003	T|T	0.05305|0.05305	-1.0893|-1.0893	5|10	.|0.51188	.|T	.|0.08	-10.7513|-10.7513	16.3275|16.3275	0.82990|0.82990	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|62	.|Q9BUL8	.|PDC10_HUMAN	R|V	42|62	.|ENSP00000376506:I62V;ENSP00000418317:I62V;ENSP00000420553:I62V;ENSP00000420021:I62V;ENSP00000417202:I62V;ENSP00000417118:I62V;ENSP00000420266:I62V;ENSP00000417876:I62V;ENSP00000420424:I62V;ENSP00000420014:I62V;ENSP00000418160:I62V	.|ENSP00000376506:I62V	H|I	-|-	2|1	0|0	PDCD10|PDCD10	168897575|168897575	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.698000|7.698000	0.84413|0.84413	2.266000|2.266000	0.75297|0.75297	0.528000|0.528000	0.53228|0.53228	CAT|ATC		0.343	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350966.2	NM_007217		17	30	0	0	0	1	0	17	30				
ERRFI1	54206	broad.mit.edu	37	1	8073611	8073611	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:8073611G>C	ENST00000377482.5	-	4	1271	c.1048C>G	c.(1048-1050)Cag>Gag	p.Q350E	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	350	Interaction with EGFR and ERBB2 and regulation of EGFR activation.				lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GCAAAGCTCTGTGTCGGGGGC	0.527																																						ENST00000377482.5																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16						c.(1048-1050)Cag>Gag		ERBB receptor feedback inhibitor 1							180.0	177.0	178.0					1																	8073611		2203	4300	6503	SO:0001583	missense	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	g.chr1:8073611G>C	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.1048C>G	1.37:g.8073611G>C	ENSP00000366702:p.Gln350Glu					ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron	p.Q350E	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	1271	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	350			Interaction with EGFR and ERBB2 and regulation of EGFR activation.		B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	ENST00000377482.5	37	c.1048C>G	CCDS94.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923263	0.92319	.	.	ENSG00000116285	ENST00000377482	T	0.52057	0.68	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	M	0.70275	2.135	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.70970	-0.4727	10	0.72032	D	0.01	-5.3857	19.2671	0.93993	0.0:0.0:1.0:0.0	.	350	Q9UJM3	ERRFI_HUMAN	E	350	ENSP00000366702:Q350E	ENSP00000366702:Q350E	Q	-	1	0	ERRFI1	7996198	1.000000	0.71417	0.976000	0.42696	0.927000	0.56198	9.459000	0.97638	2.788000	0.95919	0.650000	0.86243	CAG		0.527	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		25	201	0	0	0	1	0	25	201				
SORL1	6653	broad.mit.edu	37	11	121367578	121367578	+	Splice_Site	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:121367578G>A	ENST00000260197.7	+	6	888	c.759G>A	c.(757-759)tgG>tgA	p.W253*	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	253					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTTCTGCCAGGGGAATTGATC	0.403																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.e6-1		sortilin-related receptor, L(DLR class) A repeats containing							55.0	53.0	54.0					11																	121367578		2203	4299	6502	SO:0001630	splice_region_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121367578G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.759-1G>A	11.37:g.121367578G>A						SORL1_ENST00000532451.1_3'UTR	p.W253_splice	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	6	888	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	253					B2RNX7|Q92856	Splice_Site	SNP	ENST00000260197.7	37	c.758_splice	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	39	7.398725	0.98258	.	.	ENSG00000137642	ENST00000260197	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	.	.	.	X	253	.	.	W	+	3	0	SORL1	120872788	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.557000	0.98129	2.724000	0.93272	0.563000	0.77884	TGG		0.403	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105	Nonsense_Mutation	14	23	0	0	0	1	0	14	23				
MBTPS2	51360	broad.mit.edu	37	X	21886680	21886680	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:21886680G>C	ENST00000379484.5	+	6	865	c.766G>C	c.(766-768)Gtg>Ctg	p.V256L	MBTPS2_ENST00000365779.2_Missense_Mutation_p.V256L	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	256					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						TGGAGTTGGGGTGCTCATCAC	0.398																																						ENST00000365779.2																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(766-768)Gtg>Ctg		membrane-bound transcription factor peptidase, site 2							243.0	220.0	227.0					X																	21886680		2203	4300	6503	SO:0001583	missense	51360				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	g.chrX:21886680G>C	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.766G>C	X.37:g.21886680G>C	ENSP00000368798:p.Val256Leu					MBTPS2_ENST00000379484.5_Missense_Mutation_p.V256L	p.V256L			O43462	MBTP2_HUMAN			6	847	+			256					Q9UM70|Q9UMD3	Missense_Mutation	SNP	ENST00000379484.5	37	c.766G>C	CCDS14201.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614239	0.66672	.	.	ENSG00000012174	ENST00000379484;ENST00000365779	D;D	0.94723	-3.5;-2.31	5.64	5.64	0.86602	Peptidase M50 (1);	0.054485	0.64402	D	0.000001	D	0.92136	0.7507	L	0.51422	1.61	0.43242	D	0.995153	P;P	0.41102	0.454;0.738	B;B	0.38156	0.266;0.263	D	0.90737	0.4647	10	0.18710	T	0.47	-15.1684	18.7278	0.91720	0.0:0.0:1.0:0.0	.	256;256	O43462;B9ZVQ3	MBTP2_HUMAN;.	L	256	ENSP00000368798:V256L;ENSP00000368796:V256L	ENSP00000368796:V256L	V	+	1	0	MBTPS2	21796601	1.000000	0.71417	0.906000	0.35671	0.924000	0.55760	7.798000	0.85924	2.368000	0.80403	0.544000	0.68410	GTG		0.398	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			8	227	0	0	0	1	0	8	227				
NFIB	4781	broad.mit.edu	37	9	14120551	14120551	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:14120551G>C	ENST00000380959.3	-	8	1606	c.1133C>G	c.(1132-1134)cCa>cGa	p.P378R	NFIB_ENST00000543693.1_Missense_Mutation_p.P126R|NFIB_ENST00000397579.2_Missense_Mutation_p.P378R|NFIB_ENST00000397575.3_Missense_Mutation_p.P378R|NFIB_ENST00000397581.2_Missense_Mutation_p.P378R|NFIB_ENST00000380953.1_Missense_Mutation_p.P378R|NFIB_ENST00000380934.4_Missense_Mutation_p.P404R|NFIB_ENST00000380924.1_Missense_Mutation_p.P126R	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	378					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GTAGCTCGATGGGGCTGGAGG	0.468			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000380959.3				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"""MYB, HGMA2"""		"""adenoid cystic carcinoma, lipoma"""		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.(1132-1134)cCa>cGa		nuclear factor I/B							200.0	167.0	178.0					9																	14120551		2203	4300	6503	SO:0001583	missense	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14120551G>C	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.1133C>G	9.37:g.14120551G>C	ENSP00000370346:p.Pro378Arg					NFIB_ENST00000380934.4_Missense_Mutation_p.P404R|NFIB_ENST00000380953.1_Missense_Mutation_p.P378R|NFIB_ENST00000397581.2_Missense_Mutation_p.P378R|NFIB_ENST00000397575.3_Missense_Mutation_p.P378R|NFIB_ENST00000543693.1_Missense_Mutation_p.P126R|NFIB_ENST00000397579.2_Missense_Mutation_p.P378R|NFIB_ENST00000380924.1_Missense_Mutation_p.P126R	p.P378R	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	8	1606	-			378					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	c.1133C>G	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186139	0.78789	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000543693;ENST00000380924	T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.65154	0.2664	L	0.48642	1.525	0.80722	D	1	D;P;P;D	0.69078	0.96;0.624;0.928;0.997	P;B;P;D	0.80764	0.726;0.428;0.564;0.994	T	0.65973	-0.6038	10	0.87932	D	0	.	19.8215	0.96599	0.0:0.0:1.0:0.0	.	378;378;378;126	Q5VW27;Q5VW29;O00712;G3V1P1	.;.;NFIB_HUMAN;.	R	404;378;378;378;378;378;126;126	ENSP00000370321:P404R;ENSP00000370346:P378R;ENSP00000370340:P378R;ENSP00000380705:P378R;ENSP00000380711:P378R;ENSP00000380709:P378R;ENSP00000442888:P126R;ENSP00000370311:P126R	ENSP00000370311:P126R	P	-	2	0	NFIB	14110551	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.011000	0.93618	2.679000	0.91253	0.650000	0.86243	CCA		0.468	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		7	51	0	0	0	1	0	7	51				
MAGEB2	4113	broad.mit.edu	37	X	30237576	30237576	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:30237576C>G	ENST00000378988.4	+	2	980	c.879C>G	c.(877-879)gcC>gcG	p.A293A		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	293	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AGTTTTTGGCCAAGGTAAATG	0.527																																						ENST00000378988.4																			0				breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						c.(877-879)gcC>gcG		melanoma antigen family B, 2							47.0	48.0	48.0					X																	30237576		2202	4299	6501	SO:0001819	synonymous_variant	4113						protein binding	g.chrX:30237576C>G	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.879C>G	X.37:g.30237576C>G							p.A293A	NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN			2	980	+			293			MAGE.		O75860	Silent	SNP	ENST00000378988.4	37	c.879C>G	CCDS14219.1																																																																																				0.527	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		4	60	0	0	0	1	0	4	60				
ZXDA	7789	broad.mit.edu	37	X	57935135	57935135	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:57935135G>T	ENST00000358697.4	-	1	1932	c.1720C>A	c.(1720-1722)Ctc>Atc	p.L574I		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	574	Required for transcriptional activation.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TGAGCTAAGAGATCCTGGCCC	0.463																																						ENST00000358697.4																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						c.(1720-1722)Ctc>Atc		zinc finger, X-linked, duplicated A							119.0	106.0	110.0					X																	57935135		2194	4296	6490	SO:0001583	missense	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57935135G>T	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1720C>A	X.37:g.57935135G>T	ENSP00000351530:p.Leu574Ile						p.L574I	NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN			1	1932	-			574			Required for transcriptional activation.		Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	c.1720C>A	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	11.77	1.737557	0.30774	.	.	ENSG00000198205	ENST00000358697	T	0.10960	2.82	3.15	3.15	0.36227	.	0.139892	0.48286	D	0.000198	T	0.15046	0.0363	M	0.62723	1.935	0.37677	D	0.923342	P	0.48294	0.908	P	0.47162	0.54	T	0.05435	-1.0885	9	.	.	.	.	8.8758	0.35345	0.0:0.0:1.0:0.0	.	574	P98168	ZXDA_HUMAN	I	574	ENSP00000351530:L574I	.	L	-	1	0	ZXDA	57951860	.	.	0.982000	0.44146	0.768000	0.43524	.	.	1.827000	0.53221	0.415000	0.27848	CTC		0.463	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		40	71	1	0	1.86277e-20	1	2.25609e-20	40	71				
IGSF9	57549	broad.mit.edu	37	1	159912857	159912857	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:159912857C>G	ENST00000368094.1	-	3	340	c.143G>C	c.(142-144)gGc>gCc	p.G48A	IGSF9_ENST00000361509.3_Missense_Mutation_p.G48A	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	48	Ig-like 1.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ggggggccggccggccggggg	0.642																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(142-144)gGc>gCc		immunoglobulin superfamily, member 9							23.0	29.0	27.0					1																	159912857		2203	4299	6502	SO:0001583	missense	57549					cell junction|integral to membrane|synapse		g.chr1:159912857C>G	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.143G>C	1.37:g.159912857C>G	ENSP00000357073:p.Gly48Ala					IGSF9_ENST00000361509.3_Missense_Mutation_p.G48A	p.G48A	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	340	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	48			Ig-like 1.			Missense_Mutation	SNP	ENST00000368094.1	37	c.143G>C	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.790314	0.70337	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.35973	1.28;1.28	4.84	4.84	0.62591	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.175607	0.27393	N	0.019573	T	0.42944	0.1225	M	0.64997	1.995	0.36159	D	0.848008	P;P	0.48089	0.905;0.891	P;P	0.57548	0.521;0.823	T	0.33548	-0.9864	9	.	.	.	-8.6328	15.8239	0.78683	0.0:1.0:0.0:0.0	.	48;48	Q9P2J2;C9JI81	TUTLA_HUMAN;.	A	48	ENSP00000355049:G48A;ENSP00000357073:G48A	.	G	-	2	0	IGSF9	158179481	0.000000	0.05858	0.998000	0.56505	0.806000	0.45545	0.508000	0.22692	2.393000	0.81446	0.557000	0.71058	GGC		0.642	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		14	21	0	0	0	1	0	14	21				
SSH2	85464	broad.mit.edu	37	17	28030080	28030080	+	Splice_Site	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:28030080G>C	ENST00000269033.3	-	3	259	c.108C>G	c.(106-108)agC>agG	p.S36R	SSH2_ENST00000324677.7_5'UTR|RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Splice_Site_p.S63R	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	36					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTCGCTGATGCTACAAGGAA	0.413																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.e3-1		slingshot protein phosphatase 2							129.0	127.0	128.0					17																	28030080		2203	4300	6503	SO:0001630	splice_region_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:28030080G>C	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.108-1C>G	17.37:g.28030080G>C						SSH2_ENST00000324677.7_5'UTR|SSH2_ENST00000540801.1_Splice_Site_p.S63_splice|RP11-68I3.2_ENST00000581474.1_RNA	p.S36_splice	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			3	259	-			36					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Splice_Site	SNP	ENST00000269033.3	37	c.107_splice	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436427	0.43224	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	T;T	0.10668	2.85;2.86	6.05	5.08	0.68730	.	0.149418	0.64402	D	0.000003	T	0.29093	0.0723	M	0.64404	1.975	0.80722	D	1	P;D;B;P	0.64830	0.753;0.994;0.433;0.668	B;D;B;B	0.71870	0.406;0.975;0.167;0.387	T	0.01133	-1.1441	10	0.46703	T	0.11	.	14.0311	0.64615	0.073:0.0:0.927:0.0	.	63;36;36;36	F5H527;Q76I76-3;Q76I76-4;Q76I76	.;.;.;SSH2_HUMAN	R	36;63;36	ENSP00000269033:S36R;ENSP00000444743:S63R	ENSP00000269033:S36R	S	-	3	2	SSH2	25054206	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.738000	0.38207	1.575000	0.49775	0.650000	0.86243	AGC		0.413	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389	Missense_Mutation	8	81	0	0	0	1	0	8	81				
CLPB	81570	broad.mit.edu	37	11	72069969	72069969	+	Missense_Mutation	SNP	C	C	T	rs139268876		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:72069969C>T	ENST00000294053.3	-	6	993	c.820G>A	c.(820-822)Gtt>Att	p.V274I	CLPB_ENST00000445069.2_Missense_Mutation_p.V170I|CLPB_ENST00000538039.1_Missense_Mutation_p.V244I|CLPB_ENST00000543042.1_Missense_Mutation_p.V73I|CLPB_ENST00000340729.5_Missense_Mutation_p.V215I|CLPB_ENST00000437826.2_Missense_Mutation_p.V229I|RP11-45F15.2_ENST00000537727.1_RNA	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	274					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						TCAGCAAGAACAGCATAGTGC	0.582																																						ENST00000294053.3																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						c.(820-822)Gtt>Att		ClpB caseinolytic peptidase B homolog (E. coli)							188.0	139.0	156.0					11																	72069969		2200	4293	6493	SO:0001583	missense	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72069969C>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.820G>A	11.37:g.72069969C>T	ENSP00000294053:p.Val274Ile					CLPB_ENST00000543042.1_Missense_Mutation_p.V73I|CLPB_ENST00000538039.1_Missense_Mutation_p.V244I|CLPB_ENST00000437826.2_Missense_Mutation_p.V229I|CLPB_ENST00000445069.2_Missense_Mutation_p.V170I|CLPB_ENST00000340729.5_Missense_Mutation_p.V215I|RP11-45F15.2_ENST00000537727.1_RNA	p.V274I	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN			6	993	-			274					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	c.820G>A	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024331	0.54683	.	.	ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000544683;ENST00000539148	T;T;T;T;T;T;T;T	0.68181	-0.31;-0.1;-0.31;-0.1;-0.31;-0.22;-0.1;-0.31	4.36	4.36	0.52297	Ankyrin repeat-containing domain (3);	0.323094	0.28778	N	0.014172	T	0.63510	0.2517	L	0.41236	1.265	0.30700	N	0.750412	B;B;P;B;B	0.36330	0.025;0.103;0.548;0.103;0.1	B;B;B;B;B	0.42798	0.043;0.136;0.398;0.136;0.154	T	0.67138	-0.5746	10	0.41790	T	0.15	-23.8664	14.7682	0.69657	0.0:1.0:0.0:0.0	.	73;215;229;244;274	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078	.;.;.;.;CLPB_HUMAN	I	274;244;279;215;229;73;98;128	ENSP00000294053:V274I;ENSP00000441518:V244I;ENSP00000443822:V279I;ENSP00000340385:V215I;ENSP00000407296:V229I;ENSP00000439746:V73I;ENSP00000442651:V98I;ENSP00000445327:V128I	ENSP00000294053:V274I	V	-	1	0	CLPB	71747617	1.000000	0.71417	0.943000	0.38184	0.993000	0.82548	4.405000	0.59741	2.427000	0.82271	0.637000	0.83480	GTT		0.582	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		39	53	0	0	0	1	0	39	53				
CDC42BPB	9578	broad.mit.edu	37	14	103410270	103410270	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:103410270G>C	ENST00000361246.2	-	30	4654	c.4366C>G	c.(4366-4368)Cgc>Ggc	p.R1456G		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCCTGCGCGCGTGCCCTCCGG	0.567																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(4366-4368)Cgc>Ggc		CDC42 binding protein kinase beta (DMPK-like)							56.0	45.0	49.0					14																	103410270		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103410270G>C	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4366C>G	14.37:g.103410270G>C	ENSP00000355237:p.Arg1456Gly						p.R1456G	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	30	4654	-		Melanoma(154;0.155)	1456			CNH.			Missense_Mutation	SNP	ENST00000361246.2	37	c.4366C>G	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842209	0.71488	.	.	ENSG00000198752	ENST00000361246	T	0.06849	3.25	5.4	4.5	0.54988	Citron-like (3);	0.053822	0.85682	D	0.000000	T	0.34221	0.0890	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.80764	0.985;0.994	T	0.40289	-0.9571	10	0.87932	D	0	.	15.7524	0.77997	0.0:0.0:0.8623:0.1377	.	1456;1456	A9JR72;Q9Y5S2	.;MRCKB_HUMAN	G	1456	ENSP00000355237:R1456G	ENSP00000355237:R1456G	R	-	1	0	CDC42BPB	102480023	1.000000	0.71417	0.809000	0.32408	0.997000	0.91878	6.541000	0.73865	1.385000	0.46445	0.655000	0.94253	CGC		0.567	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		4	33	0	0	0	1	0	4	33				
ANGPT2	285	broad.mit.edu	37	8	6420344	6420344	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:6420344G>T	ENST00000325203.5	-	1	586	c.112C>A	c.(112-114)Cat>Aat	p.H38N	ANGPT2_ENST00000415216.1_Missense_Mutation_p.H38N|ANGPT2_ENST00000338312.6_Missense_Mutation_p.H38N|ANGPT2_ENST00000523120.1_Missense_Mutation_p.H38N|MCPH1_ENST00000344683.5_Intron			O15123	ANGP2_HUMAN	angiopoietin 2	38					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		CAGGACCCATGCTGGACCTGA	0.532																																						ENST00000325203.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(112-114)Cat>Aat		angiopoietin 2							129.0	103.0	112.0					8																	6420344		2203	4300	6503	SO:0001583	missense	285				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding	g.chr8:6420344G>T	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.112C>A	8.37:g.6420344G>T	ENSP00000314897:p.His38Asn					ANGPT2_ENST00000523120.1_Missense_Mutation_p.H38N|ANGPT2_ENST00000415216.1_Missense_Mutation_p.H38N|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Missense_Mutation_p.H38N	p.H38N			O15123	ANGP2_HUMAN		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)	1	586	-		Hepatocellular(245;0.0663)	38					A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Missense_Mutation	SNP	ENST00000325203.5	37	c.112C>A	CCDS5958.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921404	0.33908	.	.	ENSG00000091879	ENST00000325203;ENST00000415216;ENST00000338312;ENST00000523120	D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68	5.36	4.46	0.54185	.	0.251689	0.45867	N	0.000327	T	0.74092	0.3671	L	0.27053	0.805	0.42229	D	0.991889	B;B;B;B	0.14805	0.004;0.011;0.004;0.004	B;B;B;B	0.20184	0.028;0.012;0.028;0.012	T	0.69636	-0.5092	10	0.48119	T	0.1	.	12.7729	0.57432	0.0:0.0:0.8292:0.1708	.	38;38;38;38	O15123-2;E7EVQ3;O15123-3;O15123	.;.;.;ANGP2_HUMAN	N	38	ENSP00000314897:H38N;ENSP00000400782:H38N;ENSP00000343517:H38N;ENSP00000428023:H38N	ENSP00000314897:H38N	H	-	1	0	ANGPT2	6407752	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.841000	0.55850	1.204000	0.43247	0.655000	0.94253	CAT		0.532	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147		16	59	1	0	2.23348e-06	1	2.3866e-06	16	59				
INHBA	3624	broad.mit.edu	37	7	41729258	41729258	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:41729258C>A	ENST00000242208.4	-	3	1517	c.1271G>T	c.(1270-1272)gGg>gTg	p.G424V	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.G424V|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	424					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTATGAGCACCCACACTCCTC	0.458										TSP Lung(11;0.080)																												ENST00000242208.4																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1270-1272)gGg>gTg		inhibin, beta A							83.0	77.0	79.0					7																	41729258		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41729258C>A		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.1271G>T	7.37:g.41729258C>A	ENSP00000242208:p.Gly424Val	TSP Lung(11;0.080)				INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.G424V|AC005027.3_ENST00000416150.1_RNA	p.G424V	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN			3	1517	-			424					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.1271G>T	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513491	0.64522	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	D;D	0.86769	-2.17;-2.17	5.71	5.71	0.89125	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96204	0.8762	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97109	0.9803	10	0.87932	D	0	-24.9184	19.8536	0.96748	0.0:1.0:0.0:0.0	.	424	P08476	INHBA_HUMAN	V	424	ENSP00000242208:G424V;ENSP00000397197:G424V	ENSP00000242208:G424V	G	-	2	0	INHBA	41695783	1.000000	0.71417	0.990000	0.47175	0.924000	0.55760	7.811000	0.86092	2.708000	0.92522	0.591000	0.81541	GGG		0.458	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			18	38	1	0	1.15919e-05	1	1.22949e-05	18	38				
SIRPB1	10326	broad.mit.edu	37	20	1592331	1592331	+	Intron	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:1592331C>G	ENST00000381605.4	-	1	141				SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000279477.7_Silent_p.V35V|SIRPB1_ENST00000568365.1_Silent_p.V35V|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CAGGCTGAATCACCTGCAGCT	0.517																																						ENST00000279477.7																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(103-105)gtG>gtC		signal-regulatory protein beta 1							34.0	45.0	42.0					20																	1592331		437	1321	1758	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1592331C>G	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8183G>C	20.37:g.1592331C>G						SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Silent_p.V35V	p.V35V	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			2	169	-			35			Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	c.105G>C	CCDS13019.1																																																																																				0.517	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		9	20	0	0	0	1	0	9	20				
ANK2	287	broad.mit.edu	37	4	114279688	114279688	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:114279688C>G	ENST00000357077.4	+	38	9967	c.9914C>G	c.(9913-9915)cCt>cGt	p.P3305R	ANK2_ENST00000264366.6_Missense_Mutation_p.P3272R|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3305					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCAAAATTCCTGTAAGGACT	0.433																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(9913-9915)cCt>cGt		ankyrin 2, neuronal							104.0	100.0	101.0					4																	114279688		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114279688C>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9914C>G	4.37:g.114279688C>G	ENSP00000349588:p.Pro3305Arg					ANK2_ENST00000264366.6_Missense_Mutation_p.P3272R|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	p.P3305R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	9967	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3272					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.9914C>G	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	c	13.68	2.310087	0.40895	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.96427	-0.38;-0.39;-4.01	5.66	3.95	0.45737	.	0.107642	0.41605	D	0.000849	D	0.96494	0.8856	M	0.71581	2.175	0.80722	D	1	P;P	0.47191	0.891;0.773	P;P	0.51385	0.541;0.668	D	0.95650	0.8706	10	0.72032	D	0.01	.	12.291	0.54819	0.0:0.8635:0.0:0.1365	.	3272;3305	Q01484;Q01484-4	ANK2_HUMAN;.	R	3305;3272;315	ENSP00000349588:P3305R;ENSP00000264366:P3272R;ENSP00000422498:P315R	ENSP00000264366:P3272R	P	+	2	0	ANK2	114499137	0.946000	0.32159	0.049000	0.19019	0.892000	0.51952	2.070000	0.41491	0.758000	0.33059	-0.127000	0.14921	CCT		0.433	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		29	106	0	0	0	1	0	29	106				
KIF4B	285643	broad.mit.edu	37	5	154394648	154394648	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:154394648C>A	ENST00000435029.4	+	1	1389	c.1229C>A	c.(1228-1230)gCt>gAt	p.A410D		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	410					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGCAAGGCAGCTGGTCAGACA	0.463																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(1228-1230)gCt>gAt		kinesin family member 4B							141.0	142.0	142.0					5																	154394648		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154394648C>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1229C>A	5.37:g.154394648C>A	ENSP00000387875:p.Ala410Asp						p.A410D	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	1389	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	410						Missense_Mutation	SNP	ENST00000435029.4	37	c.1229C>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	12.23	1.875300	0.33162	.	.	ENSG00000226650	ENST00000435029	T	0.61742	0.08	1.61	1.61	0.23674	.	.	.	.	.	T	0.47284	0.1437	L	0.55481	1.735	0.41792	D	0.989875	B	0.30584	0.286	B	0.33254	0.16	T	0.28522	-1.0041	9	0.12430	T	0.62	.	9.1717	0.37086	0.0:1.0:0.0:0.0	.	410	Q2VIQ3	KIF4B_HUMAN	D	410	ENSP00000387875:A410D	ENSP00000387875:A410D	A	+	2	0	KIF4B	154374841	0.857000	0.29778	0.934000	0.37439	0.687000	0.40016	1.331000	0.33793	1.213000	0.43380	0.563000	0.77884	GCT		0.463	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			62	108	1	0	4.10029e-35	1	5.12179e-35	62	108				
OR1L3	26735	broad.mit.edu	37	9	125438164	125438164	+	Nonsense_Mutation	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:125438164T>A	ENST00000304820.2	+	1	850	c.756T>A	c.(754-756)taT>taA	p.Y252*		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TTCTGTTTTATGGGAGTATTA	0.443																																						ENST00000304820.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						c.(754-756)taT>taA		olfactory receptor, family 1, subfamily L, member 3							98.0	74.0	82.0					9																	125438164		2203	4300	6503	SO:0001587	stop_gained	26735				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125438164T>A		CCDS35128.1	9q33.2	2013-09-20			ENSG00000171481	ENSG00000171481		"""GPCR / Class A : Olfactory receptors"""	8215	protein-coding gene	gene with protein product							Standard	NM_001005234		Approved	OR9-D	uc011lzb.2	Q8NH93	OTTHUMG00000020619	ENST00000304820.2:c.756T>A	9.37:g.125438164T>A	ENSP00000302863:p.Tyr252*						p.Y252*	NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN			1	850	+			252					B2RNF4|Q6IFN1	Nonsense_Mutation	SNP	ENST00000304820.2	37	c.756T>A	CCDS35128.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.370517	0.42003	.	.	ENSG00000171481	ENST00000304820	.	.	.	4.14	2.98	0.34508	.	0.000000	0.36893	U	0.002357	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4965	7.8059	0.29202	0.0:0.1117:0.0:0.8883	.	.	.	.	X	252	.	ENSP00000302863:Y252X	Y	+	3	2	OR1L3	124477985	0.855000	0.29742	0.658000	0.29665	0.024000	0.10985	0.397000	0.20883	0.745000	0.32763	0.477000	0.44152	TAT		0.443	OR1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053950.1			14	23	0	0	0	1	0	14	23				
PCYT1B	9468	broad.mit.edu	37	X	24665228	24665228	+	De_novo_Start_InFrame	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:24665228G>T	ENST00000379144.2	-	0	125				PCYT1B_ENST00000356768.4_De_novo_Start_InFrame|PCYT1B_ENST00000379145.1_Intron|PCYT1B-AS1_ENST00000432626.1_RNA	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta						CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GGCATGGCCAGTGAATGCTCC	0.498																																						ENST00000379144.2																			0				breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17								phosphate cytidylyltransferase 1, choline, beta	Choline(DB00122)						142.0	108.0	119.0					X																	24665228		2203	4300	6503			9468					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	g.chrX:24665228G>T	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270		X.37:g.24665228G>T						PCYT1B_ENST00000379145.1_Intron|PCYT1B_ENST00000356768.4_De_novo_Start_InFrame		NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN			0	125	-								A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Translation_Start_Site	SNP	ENST00000379144.2	37		CCDS14213.1																																																																																				0.498	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845		21	40	1	0	1.77063e-15	1	2.07781e-15	21	40				
DNAH5	1767	broad.mit.edu	37	5	13859656	13859656	+	Missense_Mutation	SNP	T	T	A	rs80164898		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:13859656T>A	ENST00000265104.4	-	30	4959	c.4855A>T	c.(4855-4857)Aca>Tca	p.T1619S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1619	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGATGTCTGTTGAGTTGGAA	0.413									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(4855-4857)Aca>Tca		dynein, axonemal, heavy chain 5							163.0	157.0	159.0					5																	13859656		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13859656T>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4855A>T	5.37:g.13859656T>A	ENSP00000265104:p.Thr1619Ser						p.T1619S	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			30	4959	-	Lung NSC(4;0.00476)		1619			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.4855A>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	2.909	-0.225778	0.06022	.	.	ENSG00000039139	ENST00000265104	T	0.59224	0.28	5.37	1.57	0.23409	Dynein heavy chain, domain-2 (1);	0.101382	0.64402	D	0.000003	T	0.22322	0.0538	N	0.02379	-0.575	0.44825	D	0.997834	B	0.02656	0.0	B	0.11329	0.006	T	0.27262	-1.0079	10	0.02654	T	1	.	6.1835	0.20484	0.1196:0.1331:0.0:0.7472	.	1619	Q8TE73	DYH5_HUMAN	S	1619	ENSP00000265104:T1619S	ENSP00000265104:T1619S	T	-	1	0	DNAH5	13912656	0.998000	0.40836	0.248000	0.24265	0.953000	0.61014	3.199000	0.51043	0.088000	0.17205	-0.433000	0.05886	ACA		0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		39	182	0	0	0	1	0	39	182				
SLC44A3	126969	broad.mit.edu	37	1	95330309	95330309	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:95330309G>C	ENST00000271227.6	+	11	1351	c.1249G>C	c.(1249-1251)Gat>Cat	p.D417H	SLC44A3_ENST00000532427.1_Missense_Mutation_p.D337H|SLC44A3_ENST00000446120.2_Missense_Mutation_p.D381H|SLC44A3_ENST00000529450.1_Missense_Mutation_p.D385H|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000467909.1_Missense_Mutation_p.D369H|SLC44A3_ENST00000527077.1_Missense_Mutation_p.D349H	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	417					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	AAGTAAAAATGATCCTCCTGA	0.388																																						ENST00000271227.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(1249-1251)Gat>Cat		solute carrier family 44, member 3	Choline(DB00122)						172.0	165.0	167.0					1																	95330309		2203	4300	6503	SO:0001583	missense	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95330309G>C	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1249G>C	1.37:g.95330309G>C	ENSP00000271227:p.Asp417His					SLC44A3_ENST00000467909.1_Missense_Mutation_p.D369H|SLC44A3_ENST00000527077.1_Missense_Mutation_p.D349H|SLC44A3_ENST00000532427.1_Missense_Mutation_p.D337H|SLC44A3_ENST00000529450.1_Missense_Mutation_p.D385H|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000446120.2_Missense_Mutation_p.D381H	p.D417H	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	11	1351	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	417					B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	c.1249G>C	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398449	0.25205	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427	T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84	5.63	3.66	0.41972	.	0.353444	0.27886	N	0.017454	T	0.30230	0.0758	M	0.78456	2.415	0.09310	N	1	P;B;P;P;D	0.60575	0.927;0.275;0.927;0.927;0.988	P;B;P;P;D	0.64237	0.77;0.219;0.77;0.77;0.923	T	0.11991	-1.0565	10	0.72032	D	0.01	-8.0303	5.9448	0.19213	0.2017:0.1581:0.6402:0.0	.	337;381;349;385;417	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	H	381;417;349;385;369;337	ENSP00000389143:D381H;ENSP00000271227:D417H;ENSP00000433641:D349H;ENSP00000431836:D385H;ENSP00000432789:D369H;ENSP00000436661:D337H	ENSP00000271227:D417H	D	+	1	0	SLC44A3	95102897	0.661000	0.27430	0.998000	0.56505	0.050000	0.14768	3.295000	0.51794	1.378000	0.46305	0.655000	0.94253	GAT		0.388	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		4	156	0	0	0	1	0	4	156				
C5orf51	285636	broad.mit.edu	37	5	41917317	41917317	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:41917317G>A	ENST00000381647.2	+	6	820	c.801G>A	c.(799-801)gtG>gtA	p.V267V		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	267										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						ATGTATCTGTGTGTGAAGGAC	0.393																																						ENST00000381647.2																			0				endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(799-801)gtG>gtA		chromosome 5 open reading frame 51							88.0	86.0	87.0					5																	41917317		2203	4300	6503	SO:0001819	synonymous_variant	285636							g.chr5:41917317G>A	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.801G>A	5.37:g.41917317G>A							p.V267V	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN			6	820	+			267					A2RRM9	Silent	SNP	ENST00000381647.2	37	c.801G>A	CCDS34151.1																																																																																				0.393	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	NM_175921		23	60	0	0	0	1	0	23	60				
CMTM7	112616	broad.mit.edu	37	3	32483360	32483360	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:32483360T>G	ENST00000334983.5	+	2	424	c.188T>G	c.(187-189)gTg>gGg	p.V63G	CMTM7_ENST00000349718.4_Missense_Mutation_p.V63G	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	63	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(1)|lung(2)	4						TTCATCTGTGTGCGGAGCTCC	0.512																																						ENST00000334983.5																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(187-189)gTg>gGg		CKLF-like MARVEL transmembrane domain containing 7							158.0	141.0	147.0					3																	32483360		2203	4300	6503	SO:0001583	missense	112616				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr3:32483360T>G	AF479263	CCDS33730.1, CCDS33731.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000153551	ENSG00000153551			19178	protein-coding gene	gene with protein product		607890	"""chemokine-like factor super family 7"", ""chemokine-like factor superfamily 7"""	CKLFSF7			Standard	NM_138410		Approved	FLJ30992	uc003cey.1	Q96FZ5	OTTHUMG00000155869	ENST00000334983.5:c.188T>G	3.37:g.32483360T>G	ENSP00000335605:p.Val63Gly					CMTM7_ENST00000349718.4_Missense_Mutation_p.V63G	p.V63G	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN			2	424	+			63			MARVEL.		Q5VLK1	Missense_Mutation	SNP	ENST00000334983.5	37	c.188T>G	CCDS33730.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.751294	0.69533	.	.	ENSG00000153551	ENST00000334983;ENST00000349718;ENST00000465248	T	0.29397	1.57	5.32	5.32	0.75619	Marvel (1);MARVEL-like domain (1);	0.219740	0.37437	N	0.002083	T	0.56031	0.1958	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.967	T	0.58803	-0.7572	10	0.48119	T	0.1	.	14.2599	0.66078	0.0:0.0:0.0:1.0	.	63;63	Q5VLK1;Q96FZ5	.;CKLF7_HUMAN	G	63;63;19	ENSP00000335605:V63G	ENSP00000335605:V63G	V	+	2	0	CMTM7	32458364	1.000000	0.71417	0.619000	0.29118	0.706000	0.40770	5.562000	0.67346	2.019000	0.59389	0.482000	0.46254	GTG		0.512	CMTM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342084.1			4	118	0	0	0	1	0	4	118				
OBSCN	84033	broad.mit.edu	37	1	228559510	228559510	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:228559510G>C	ENST00000422127.1	+	94	21075	c.21031G>C	c.(21031-21033)Ggt>Cgt	p.G7011R	OBSCN_ENST00000366707.4_Missense_Mutation_p.G4645R|OBSCN_ENST00000570156.2_Missense_Mutation_p.G7968R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7011	Pro-rich.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCATCCACTGGTGGCCACCC	0.697																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(23902-23904)Ggt>Cgt		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							17.0	20.0	19.0					1																	228559510		1958	4095	6053	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228559510G>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.21031G>C	1.37:g.228559510G>C	ENSP00000409493:p.Gly7011Arg					OBSCN_ENST00000366707.4_Missense_Mutation_p.G4645R|OBSCN_ENST00000422127.1_Missense_Mutation_p.G7011R	p.G7968R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			105	23976	+		Prostate(94;0.0405)	7011					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.23902G>C	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.98|15.98	2.993572|2.993572	0.54041|0.54041	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|.	0.61392|.	0.11;0.13|.	3.82|3.82	-0.921|-0.921	0.10472|0.10472	.|.	.|.	.|.	.|.	.|.	T|T	0.19208|0.19208	0.0461|0.0461	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.15930|.	0.015|.	B|.	0.09377|.	0.004|.	T|T	0.30179|0.30179	-0.9987|-0.9987	9|5	0.51188|.	T|.	0.08|.	.|.	6.806|6.806	0.23779|0.23779	0.6041:0.0:0.3959:0.0|0.6041:0.0:0.3959:0.0	.|.	7011|.	Q5VST9|.	OBSCN_HUMAN|.	R|S	7011;4645|1627	ENSP00000409493:G7011R;ENSP00000355668:G4645R|.	ENSP00000355668:G4645R|.	G|W	+|+	1|2	0|0	OBSCN|OBSCN	226626133|226626133	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.559000|-1.559000	0.02162|0.02162	-0.278000|-0.278000	0.09180|0.09180	-0.300000|-0.300000	0.09419|0.09419	GGT|TGG		0.697	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	50	0	0	0	1	0	6	50				
LY6G6C	80740	broad.mit.edu	37	6	31691642	31691642	+	5'Flank	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:31691642C>G	ENST00000375819.2	-	0	0				C6orf25_ENST00000375809.3_Silent_p.L96L|C6orf25_ENST00000375810.4_Silent_p.L96L|C6orf25_ENST00000375805.2_Silent_p.L96L|LY6G6C_ENST00000495859.1_5'Flank|C6orf25_ENST00000480039.1_Silent_p.L96L	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						GGCTGGAGCTCCTCTTGAGCG	0.662																																						ENST00000375809.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(286-288)ctC>ctG		chromosome 6 open reading frame 25							53.0	66.0	62.0					6																	31691642		2201	4293	6494	SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31691642C>G		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31691642C>G	Exception_encountered					C6orf25_ENST00000375805.2_Silent_p.L96L|C6orf25_ENST00000480039.1_Silent_p.L96L|C6orf25_ENST00000375810.4_Silent_p.L96L	p.L96L	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN			2	299	+			96					Q5SRS8|Q8IY94	Silent	SNP	ENST00000375819.2	37	c.288C>G	CCDS4714.1																																																																																				0.662	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			10	140	0	0	0	1	0	10	140				
HSD17B4	3295	broad.mit.edu	37	5	118835213	118835213	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:118835213G>C	ENST00000256216.6	+	13	1307	c.1174G>C	c.(1174-1176)Gca>Cca	p.A392P	HSD17B4_ENST00000510025.1_Missense_Mutation_p.A368P|HSD17B4_ENST00000504811.1_Missense_Mutation_p.A417P|HSD17B4_ENST00000509514.1_Missense_Mutation_p.A130P|HSD17B4_ENST00000414835.2_Missense_Mutation_p.A252P|HSD17B4_ENST00000515320.1_Missense_Mutation_p.A374P|HSD17B4_ENST00000513628.1_Missense_Mutation_p.A255P	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	392	Enoyl-CoA hydratase 2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TGGAGGATTAGCAGAAATTCC	0.318																																					Colon(35;490 801 34689 41394 43344)	ENST00000504811.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.(1249-1251)Gca>Cca		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						124.0	136.0	132.0					5																	118835213		2202	4300	6502	SO:0001583	missense	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118835213G>C		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1174G>C	5.37:g.118835213G>C	ENSP00000256216:p.Ala392Pro					HSD17B4_ENST00000510025.1_Missense_Mutation_p.A368P|HSD17B4_ENST00000256216.6_Missense_Mutation_p.A392P|HSD17B4_ENST00000414835.2_Missense_Mutation_p.A252P|HSD17B4_ENST00000515320.1_Missense_Mutation_p.A374P|HSD17B4_ENST00000509514.1_Missense_Mutation_p.A130P|HSD17B4_ENST00000513628.1_Missense_Mutation_p.A255P	p.A417P	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	14	1433	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	392			Enoyl-CoA hydratase 2.		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	c.1249G>C	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	G	9.931	1.214850	0.22373	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	D;D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.49	1.19	0.21007	.	0.939249	0.09089	N	0.850167	T	0.78317	0.4264	L	0.35644	1.08	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.001;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.63932	-0.6525	10	0.34782	T	0.22	-1.145	11.1972	0.48719	0.0:0.1076:0.4598:0.4326	.	417;374;368;130;392	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	P	392;374;368;417;252;255;130	ENSP00000256216:A392P;ENSP00000424613:A374P;ENSP00000424940:A368P;ENSP00000420914:A417P;ENSP00000411960:A252P;ENSP00000425993:A255P;ENSP00000426272:A130P	ENSP00000256216:A392P	A	+	1	0	HSD17B4	118863112	0.001000	0.12720	0.027000	0.17364	0.826000	0.46750	0.403000	0.20982	0.642000	0.30620	0.557000	0.71058	GCA		0.318	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		6	151	0	0	0	1	0	6	151				
ZC3H14	79882	broad.mit.edu	37	14	89069315	89069315	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:89069315C>G	ENST00000251038.5	+	12	1883	c.1658C>G	c.(1657-1659)tCa>tGa	p.S553*	ZC3H14_ENST00000393514.5_Nonsense_Mutation_p.S528*|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000555900.1_Nonsense_Mutation_p.S255*|ZC3H14_ENST00000555755.1_Nonsense_Mutation_p.S553*|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000556945.1_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	553						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ACTGCAGCCTCAAACAAGGGA	0.527																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(1657-1659)tCa>tGa		zinc finger CCCH-type containing 14							139.0	120.0	126.0					14																	89069315		2203	4300	6503	SO:0001587	stop_gained	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89069315C>G	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1658C>G	14.37:g.89069315C>G	ENSP00000251038:p.Ser553*					ZC3H14_ENST00000555900.1_Nonsense_Mutation_p.S255*|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000555755.1_Nonsense_Mutation_p.S553*|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000393514.5_Nonsense_Mutation_p.S528*|ZC3H14_ENST00000302216.8_Intron	p.S553*	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN			12	1883	+			553					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Nonsense_Mutation	SNP	ENST00000251038.5	37	c.1658C>G	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.426428|6.426428	0.97559|0.97559	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000556000|ENST00000251038;ENST00000393530;ENST00000353091;ENST00000555755;ENST00000393514;ENST00000555900	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.684514	.|0.14730	.|N	.|0.301806	T|.	0.72220|.	0.3433|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.65417|.	-0.6173|.	4|.	.|0.30078	.|T	.|0.28	-9.2561|-9.2561	18.3065|18.3065	0.90184|0.90184	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	469|553;528;553;553;528;255	.|.	.|ENSP00000251038:S553X	Q|S	+|+	1|2	0|0	ZC3H14|ZC3H14	88139068|88139068	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.992000|0.992000	0.81027|0.81027	5.574000|5.574000	0.67424|0.67424	2.749000|2.749000	0.94314|0.94314	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.527	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		7	55	0	0	0	1	0	7	55				
MAP2K6	5608	broad.mit.edu	37	17	67513736	67513736	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:67513736G>C	ENST00000590474.1	+	4	515	c.228G>C	c.(226-228)ggG>ggC	p.G76G	MAP2K6_ENST00000589647.1_Silent_p.G20G	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	76	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TGCCCAGCGGGCAGATCATGG	0.493																																						ENST00000590474.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20						c.(226-228)ggG>ggC		mitogen-activated protein kinase kinase 6							110.0	87.0	95.0					17																	67513736		2203	4300	6503	SO:0001819	synonymous_variant	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67513736G>C	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.228G>C	17.37:g.67513736G>C						MAP2K6_ENST00000589647.1_Silent_p.G20G	p.G76G	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN			4	515	+	Breast(10;6.05e-10)		76			Protein kinase.			Silent	SNP	ENST00000590474.1	37	c.228G>C	CCDS11686.1																																																																																				0.493	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		4	26	0	0	0	1	0	4	26				
TNIP2	79155	broad.mit.edu	37	4	2746144	2746144	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:2746144G>A	ENST00000315423.7	-	5	1082	c.996C>T	c.(994-996)gcC>gcT	p.A332A	TNIP2_ENST00000503235.1_Silent_p.A249A|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000510267.1_Silent_p.A225A	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAGCAAAGAGGCGACCTTTT	0.473																																						ENST00000510267.1																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14						c.(673-675)gcC>gcT		TNFAIP3 interacting protein 2							149.0	143.0	145.0					4																	2746144		2203	4300	6503	SO:0001819	synonymous_variant	79155					cytosol	protein binding	g.chr4:2746144G>A	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.996C>T	4.37:g.2746144G>A						TNIP2_ENST00000503235.1_Silent_p.A249A|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000315423.7_Silent_p.A332A	p.A225A	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	1102	-			332						Silent	SNP	ENST00000315423.7	37	c.675C>T	CCDS3362.1																																																																																				0.473	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309		30	61	0	0	0	1	0	30	61				
CLVS1	157807	broad.mit.edu	37	8	62366709	62366709	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:62366709C>G	ENST00000519846.1	+	5	1112	c.640C>G	c.(640-642)Cct>Gct	p.P214A	CLVS1_ENST00000325897.4_Missense_Mutation_p.P214A|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	214	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGACAGCTTTCCTGCCCGCTT	0.498																																						ENST00000519846.1																			0				endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(640-642)Cct>Gct		clavesin 1							254.0	247.0	250.0					8																	62366709		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62366709C>G	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.640C>G	8.37:g.62366709C>G	ENSP00000428402:p.Pro214Ala					CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.P214A	p.P214A			Q8IUQ0	CLVS1_HUMAN			5	1112	+			214			CRAL-TRIO.		B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.640C>G	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805214	0.90623	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	D;D	0.96967	-4.19;-4.19	4.81	4.81	0.61882	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.163601	0.56097	N	0.000040	D	0.98378	0.9461	M	0.88241	2.94	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99050	1.0827	10	0.66056	D	0.02	-19.0638	18.4338	0.90636	0.0:1.0:0.0:0.0	.	214	Q8IUQ0	CLVS1_HUMAN	A	214	ENSP00000428402:P214A;ENSP00000325506:P214A	ENSP00000325506:P214A	P	+	1	0	CLVS1	62529263	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.190000	0.77755	2.661000	0.90470	0.655000	0.94253	CCT		0.498	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		13	319	0	0	0	1	0	13	319				
ZP1	22917	broad.mit.edu	37	11	60637319	60637319	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:60637319C>G	ENST00000278853.5	+	3	628	c.628C>G	c.(628-630)Caa>Gaa	p.Q210E		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	210					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CACCCTGGCTCAACCCCACTG	0.582																																						ENST00000278853.5																			0				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(628-630)Caa>Gaa		zona pellucida glycoprotein 1 (sperm receptor)							58.0	55.0	56.0					11																	60637319		2203	4299	6502	SO:0001583	missense	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60637319C>G	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.628C>G	11.37:g.60637319C>G	ENSP00000278853:p.Gln210Glu						p.Q210E	NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN			3	628	+			210						Missense_Mutation	SNP	ENST00000278853.5	37	c.628C>G	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	C	2.970	-0.212725	0.06140	.	.	ENSG00000149506	ENST00000278853	T	0.22743	1.94	4.44	1.09	0.20402	.	.	.	.	.	T	0.12050	0.0293	L	0.36672	1.1	0.09310	N	1	B	0.25105	0.118	B	0.19391	0.025	T	0.36529	-0.9744	9	0.02654	T	1	5.5099	7.125	0.25467	0.3345:0.502:0.1636:0.0	.	210	P60852	ZP1_HUMAN	E	210	ENSP00000278853:Q210E	ENSP00000278853:Q210E	Q	+	1	0	ZP1	60393895	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-0.489000	0.06490	0.371000	0.24564	0.460000	0.39030	CAA		0.582	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		8	41	0	0	0	1	0	8	41				
SLC16A13	201232	broad.mit.edu	37	17	6939846	6939846	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:6939846G>T	ENST00000308027.6	+	1	453	c.145G>T	c.(145-147)Gca>Tca	p.A49S		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	49						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TGAGGAGCAGGCAGCGCGCGT	0.632																																						ENST00000308027.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(145-147)Gca>Tca		solute carrier family 16, member 13							63.0	64.0	64.0					17																	6939846		2203	4300	6503	SO:0001583	missense	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6939846G>T	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.145G>T	17.37:g.6939846G>T	ENSP00000309751:p.Ala49Ser						p.A49S	NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN			1	453	+			49					A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	c.145G>T	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240468	0.58995	.	.	ENSG00000174327	ENST00000308027	T	0.24723	1.84	5.33	5.33	0.75918	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.111228	0.64402	D	0.000010	T	0.24084	0.0583	L	0.31371	0.925	0.50813	D	0.999893	B	0.18013	0.025	B	0.31245	0.126	T	0.04467	-1.0949	10	0.25106	T	0.35	.	16.866	0.86029	0.0:0.0:1.0:0.0	.	49	Q7RTY0	MOT13_HUMAN	S	49	ENSP00000309751:A49S	ENSP00000309751:A49S	A	+	1	0	SLC16A13	6880570	0.994000	0.37717	0.993000	0.49108	0.681000	0.39784	2.774000	0.47694	2.664000	0.90586	0.561000	0.74099	GCA		0.632	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			29	50	1	0	2.14196e-07	1	2.33047e-07	29	50				
OC90	729330	broad.mit.edu	37	8	133053934	133053934	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:133053934G>A	ENST00000443356.2	-	5	268	c.182C>T	c.(181-183)cCc>cTc	p.P61L	OC90_ENST00000603859.1_Missense_Mutation_p.P61L|OC90_ENST00000262283.5_Missense_Mutation_p.P257L|OC90_ENST00000254627.3_Missense_Mutation_p.P61L			Q02509	OC90_HUMAN	otoconin 90	61				P -> A (in Ref. 1; CAA78662). {ECO:0000305}.	lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGTGAAGTGGGGGCCCAGGCA	0.587																																						ENST00000262283.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(769-771)cCc>cTc		otoconin 90							21.0	21.0	21.0					8																	133053934		1963	4139	6102	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053934G>A	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.182C>T	8.37:g.133053934G>A	ENSP00000390050:p.Pro61Leu					OC90_ENST00000254627.3_Missense_Mutation_p.P61L|OC90_ENST00000603859.1_Missense_Mutation_p.P61L|OC90_ENST00000443356.2_Missense_Mutation_p.P61L	p.P257L			Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		8	869	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		61					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.770C>T		.	.	.	.	.	.	.	.	.	.	G	14.53	2.563298	0.45694	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.28454	1.63;1.63;1.61	5.73	5.73	0.89815	.	0.719361	0.14394	N	0.322338	T	0.22205	0.0535	N	0.14661	0.345	0.30200	N	0.798732	B;B	0.11235	0.003;0.004	B;B	0.12156	0.007;0.003	T	0.07328	-1.0778	10	0.26408	T	0.33	-3.2982	17.0379	0.86481	0.0:0.0:1.0:0.0	.	61;61	Q02509-2;Q02509	.;OC90_HUMAN	L	61;61;257	ENSP00000254627:P61L;ENSP00000390050:P61L;ENSP00000262283:P257L	ENSP00000254627:P61L	P	-	2	0	RP11-240B13.2;OC90	133123116	1.000000	0.71417	0.971000	0.41717	0.880000	0.50808	4.838000	0.62803	2.714000	0.92807	0.591000	0.81541	CCC		0.587	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		11	10	0	0	0	1	0	11	10				
CRB1	23418	broad.mit.edu	37	1	197390551	197390551	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:197390551G>C	ENST00000367400.3	+	6	1728	c.1593G>C	c.(1591-1593)gtG>gtC	p.V531V	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Silent_p.V419V|CRB1_ENST00000535699.1_Silent_p.V462V|CRB1_ENST00000538660.1_Silent_p.V531V|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000544212.1_Silent_p.V12V|CRB1_ENST00000543483.1_Silent_p.V230V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	531	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACAGGGATGTGTTTGTGAAGC	0.463																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1591-1593)gtG>gtC		crumbs homolog 1 (Drosophila)							122.0	119.0	120.0					1																	197390551		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390551G>C		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1593G>C	1.37:g.197390551G>C						CRB1_ENST00000535699.1_Silent_p.V462V|CRB1_ENST00000367399.2_Silent_p.V419V|CRB1_ENST00000544212.1_Silent_p.V12V|CRB1_ENST00000543483.1_Silent_p.V230V|CRB1_ENST00000538660.1_Silent_p.V531V|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000476483.1_3'UTR	p.V531V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			6	1728	+			531			Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.1593G>C	CCDS1390.1																																																																																				0.463	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		12	80	0	0	0	1	0	12	80				
MYO1C	4641	broad.mit.edu	37	17	1375249	1375249	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:1375249C>G	ENST00000575158.1	-	19	2044	c.1868G>C	c.(1867-1869)cGc>cCc	p.R623P	MYO1C_ENST00000438665.2_Missense_Mutation_p.R639P|MYO1C_ENST00000545534.2_Missense_Mutation_p.R634P|MYO1C_ENST00000359786.5_Missense_Mutation_p.R658P|MYO1C_ENST00000361007.2_Missense_Mutation_p.R623P			Q12965	MYO1E_HUMAN	myosin IC	619	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCGGCTCTGCGCACGCGCAG	0.657																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1972-1974)cGc>cCc		myosin IC							69.0	70.0	70.0					17																	1375249		2203	4300	6503	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1375249C>G	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1868G>C	17.37:g.1375249C>G	ENSP00000459174:p.Arg623Pro					MYO1C_ENST00000545534.2_Missense_Mutation_p.R634P|MYO1C_ENST00000438665.2_Missense_Mutation_p.R639P|MYO1C_ENST00000575158.1_Missense_Mutation_p.R623P|MYO1C_ENST00000361007.2_Missense_Mutation_p.R623P	p.R658P	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	19	2297	-			658			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.1973G>C	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129353	0.94473	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.09	5.09	0.68999	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92420	0.7594	H	0.99225	4.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.95716	0.8762	10	0.87932	D	0	.	17.4832	0.87680	0.0:1.0:0.0:0.0	.	634;658;639	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	P	658;639;639;623;634;623	ENSP00000352834:R658P;ENSP00000412197:R639P;ENSP00000354283:R623P;ENSP00000437685:R634P	ENSP00000352834:R658P	R	-	2	0	MYO1C	1321999	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.813000	0.86123	2.369000	0.80426	0.655000	0.94253	CGC		0.657	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			8	133	0	0	0	1	0	8	133				
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:142168862A>G	ENST00000454561.2	-	0	183									T cell receptor beta variable 5-4																		TGGGCCAGGCAGCACTGCACC	0.597																																						ENST00000454561.2																			0																				28.0	28.0	28.0					7																	142168862		1933	4131	6064			28611							g.chr7:142168862A>G	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168862A>G														0	183	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.597	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		3	18	0	0	0	1	0	3	18				
LATS1	9113	broad.mit.edu	37	6	150005544	150005544	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:150005544G>C	ENST00000543571.1	-	4	1228	c.681C>G	c.(679-681)caC>caG	p.H227Q	LATS1_ENST00000253339.5_Missense_Mutation_p.H227Q|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Missense_Mutation_p.H227Q	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CGTTGCTAGGGTGAGCTTGAA	0.512																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(679-681)caC>caG		large tumor suppressor kinase 1							115.0	101.0	106.0					6																	150005544		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150005544G>C	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.681C>G	6.37:g.150005544G>C	ENSP00000437550:p.His227Gln					LATS1_ENST00000392273.3_Missense_Mutation_p.H227Q|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.H227Q	p.H227Q	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	1228	-		Ovarian(120;0.0164)	227						Missense_Mutation	SNP	ENST00000543571.1	37	c.681C>G	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	8.597	0.885835	0.17540	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273;ENST00000458696	T;T;T;D	0.89746	0.73;0.73;3.3;-2.56	5.03	0.609	0.17575	.	0.000000	0.53938	D	0.000049	T	0.74268	0.3694	L	0.29908	0.895	0.32878	D	0.510138	P;D;P	0.53151	0.93;0.958;0.93	B;P;B	0.48227	0.36;0.571;0.36	T	0.69522	-0.5123	9	.	.	.	.	8.4788	0.33030	0.5881:0.0:0.4119:0.0	.	79;227;227	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	Q	227;227;227;173	ENSP00000437550:H227Q;ENSP00000253339:H227Q;ENSP00000444678:H227Q;ENSP00000441265:H173Q	.	H	-	3	2	LATS1	150047237	0.997000	0.39634	0.997000	0.53966	0.938000	0.57974	0.656000	0.24948	0.181000	0.19994	-0.145000	0.13849	CAC		0.512	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		12	97	0	0	0	1	0	12	97				
SYT3	84258	broad.mit.edu	37	19	51135875	51135875	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:51135875C>G	ENST00000338916.4	-	2	975	c.342G>C	c.(340-342)ggG>ggC	p.G114G	SYT3_ENST00000600079.1_Silent_p.G114G|SYT3_ENST00000544769.1_Silent_p.G114G|SYT3_ENST00000593901.1_Silent_p.G114G	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	114					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCAGGTGGTGCCCGCCTCCGC	0.721																																						ENST00000338916.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(340-342)ggG>ggC		synaptotagmin III							15.0	18.0	17.0					19																	51135875		2198	4291	6489	SO:0001819	synonymous_variant	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51135875C>G	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.342G>C	19.37:g.51135875C>G						SYT3_ENST00000600079.1_Silent_p.G114G|SYT3_ENST00000593901.1_Silent_p.G114G|SYT3_ENST00000544769.1_Silent_p.G114G	p.G114G	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	2	975	-		all_neural(266;0.131)	114					Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	37	c.342G>C	CCDS12798.1																																																																																				0.721	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		18	8	0	0	0	1	0	18	8				
OOEP	441161	broad.mit.edu	37	6	74079503	74079503	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:74079503C>G	ENST00000370359.5	-	1	12	c.13G>C	c.(13-15)Gct>Cct	p.A5P	OOEP-AS1_ENST00000445350.2_RNA|OOEP_ENST00000370363.1_Intron	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	5					cellular protein complex assembly (GO:0043623)|embryo implantation (GO:0007566)|embryonic pattern specification (GO:0009880)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|protein phosphorylation (GO:0006468)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|protein complex (GO:0043234)	RNA binding (GO:0003723)			large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGGCACCAGCATCATCGACC	0.652																																						ENST00000370359.5																			0				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(13-15)Gct>Cct		oocyte expressed protein							44.0	53.0	50.0					6																	74079503		2128	4252	6380	SO:0001583	missense	441161					cytoplasm		g.chr6:74079503C>G	BC024931	CCDS47451.1	6q13	2012-02-22	2012-02-22	2007-11-13	ENSG00000203907	ENSG00000203907			21382	protein-coding gene	gene with protein product	"""KH homology domain containing 2"""	611689	"""chromosome 6 open reading frame 156"", ""oocyte expressed protein homolog (dog)"""	C6orf156		17913455	Standard	NM_001080507		Approved	Em:AC019205.2, KHDC2	uc003pgu.4	A6NGQ2	OTTHUMG00000150057	ENST00000370359.5:c.13G>C	6.37:g.74079503C>G	ENSP00000359384:p.Ala5Pro					OOEP-AS1_ENST00000445350.2_RNA|OOEP_ENST00000370363.1_Intron	p.A5P	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN			1	12	-			5					A6NIN5|A9UIB7	Missense_Mutation	SNP	ENST00000370359.5	37	c.13G>C	CCDS47451.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864880	0.32977	.	.	ENSG00000203907	ENST00000370359	T	0.15139	2.45	3.97	-2.1	0.07210	.	.	.	.	.	T	0.02888	0.0086	L	0.29908	0.895	0.09310	N	1	B	0.18013	0.025	B	0.17433	0.018	T	0.44205	-0.9343	9	0.66056	D	0.02	.	0.2456	0.00198	0.3087:0.2823:0.1565:0.2525	.	5	A6NGQ2	OOEP_HUMAN	P	5	ENSP00000359384:A5P	ENSP00000359384:A5P	A	-	1	0	OOEP	74136224	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.032000	0.12266	-0.455000	0.07054	0.655000	0.94253	GCT		0.652	OOEP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108414.2	NM_001080507		4	131	0	0	0	1	0	4	131				
PLCD3	113026	broad.mit.edu	37	17	43190368	43190368	+	Missense_Mutation	SNP	C	C	A	rs199824275	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:43190368C>A	ENST00000322765.5	-	15	2254	c.2141G>T	c.(2140-2142)cGc>cTc	p.R714L	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	715	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						CTGCCCCCAGCGGGGGTTGAA	0.652																																						ENST00000322765.5																			0				breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						c.(2140-2142)cGc>cTc		phospholipase C, delta 3	Phosphatidylserine(DB00144)						23.0	26.0	25.0					17																	43190368		1917	4116	6033	SO:0001583	missense	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43190368C>A	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.2141G>T	17.37:g.43190368C>A	ENSP00000313731:p.Arg714Leu					PLCD3_ENST00000540511.1_5'UTR	p.R714L	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN			15	2254	-			715			C2.		Q8TEC1|Q8TF37|Q96FL6	Missense_Mutation	SNP	ENST00000322765.5	37	c.2141G>T		.	.	.	.	.	.	.	.	.	.	C	8.335	0.827429	0.16749	.	.	ENSG00000161714	ENST00000322765	T	0.68624	-0.34	4.84	-4.1	0.03940	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.614315	0.18060	N	0.152967	T	0.46229	0.1382	.	.	.	0.09310	N	1	P	0.37781	0.608	B	0.36092	0.217	T	0.43261	-0.9402	9	0.15499	T	0.54	.	14.2221	0.65833	0.0:0.4939:0.0:0.5061	.	715	Q8N3E9	PLCD3_HUMAN	L	714	ENSP00000313731:R714L	ENSP00000313731:R714L	R	-	2	0	PLCD3	40545894	0.000000	0.05858	0.367000	0.25926	0.919000	0.55068	-0.490000	0.06482	-0.925000	0.03775	-1.164000	0.01763	CGC		0.652	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		12	28	1	0	1.67942e-08	1	1.85824e-08	12	28				
FH	2271	broad.mit.edu	37	1	241680534	241680534	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:241680534G>C	ENST00000366560.3	-	2	253	c.215C>G	c.(214-216)aCc>aGc	p.T72S	FH_ENST00000493477.1_5'UTR	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	72					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		AGATCTCACGGTCTGGGCGCC	0.418			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"""Mis, N, F"""	fumarate hydratase			"""E, M"""		"""lieomyomatosis, renal"""			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(214-216)aCc>aGc		fumarate hydratase							146.0	131.0	136.0					1																	241680534		2203	4300	6503	SO:0001583	missense	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241680534G>C	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.215C>G	1.37:g.241680534G>C	ENSP00000355518:p.Thr72Ser					FH_ENST00000493477.1_5'UTR	p.T72S	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	2	253	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	72					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.215C>G	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621399	0.66787	.	.	ENSG00000091483	ENST00000366560	D	0.99445	-5.91	5.75	5.75	0.90469	Lyase 1, N-terminal (1);L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99609	0.9858	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98264	1.0500	10	0.72032	D	0.01	-2.1426	17.7937	0.88562	0.0:0.0:1.0:0.0	.	72	P07954	FUMH_HUMAN	S	72	ENSP00000355518:T72S	ENSP00000355518:T72S	T	-	2	0	FH	239747157	1.000000	0.71417	0.977000	0.42913	0.073000	0.16967	9.359000	0.97115	2.878000	0.98634	0.650000	0.86243	ACC		0.418	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		9	75	0	0	0	1	0	9	75				
NR0B1	190	broad.mit.edu	37	X	30327211	30327211	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:30327211C>T	ENST00000378970.4	-	1	504	c.270G>A	c.(268-270)acG>acA	p.T90T	NR0B1_ENST00000378963.1_5'Flank|NR0B1_ENST00000453287.1_Silent_p.T90T	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	90	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GTGCCGCGTACGTTTGCTTTG	0.682																																						ENST00000378970.4																			0				central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24						c.(268-270)acG>acA		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						29.0	26.0	27.0					X																	30327211		2197	4296	6493	SO:0001819	synonymous_variant	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30327211C>T	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.270G>A	X.37:g.30327211C>T						NR0B1_ENST00000453287.1_Silent_p.T90T	p.T90T	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN			1	504	-			90			4 X 67 AA tandem repeats.		Q96F69	Silent	SNP	ENST00000378970.4	37	c.270G>A	CCDS14223.1																																																																																				0.682	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		5	58	0	0	0	1	0	5	58				
CACTIN	58509	broad.mit.edu	37	19	3612145	3612145	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:3612145G>C	ENST00000429344.2	-	10	2105	c.2053C>G	c.(2053-2055)Ctc>Gtc	p.L685V	CACTIN_ENST00000221899.3_Missense_Mutation_p.L617V|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000248420.5_Missense_Mutation_p.L685V	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	685					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										TTGTCGATGAGGTCGGGGTAG	0.592																																						ENST00000429344.2																			0											c.(2053-2055)Ctc>Gtc		cactin, spliceosome C complex subunit							146.0	165.0	159.0					19																	3612145		2144	4233	6377	SO:0001583	missense	58509							g.chr19:3612145G>C	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.2053C>G	19.37:g.3612145G>C	ENSP00000415078:p.Leu685Val					CACTIN_ENST00000248420.5_Missense_Mutation_p.L685V|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Missense_Mutation_p.L617V	p.L685V	NM_001080543.1	NP_001074012.1					10	2105	-								A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	ENST00000429344.2	37	c.2053C>G	CCDS45920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.08|19.08	3.758337|3.758337	0.69763|0.69763	.|.	.|.	ENSG00000226800|ENSG00000105298	ENST00000447295|ENST00000429344;ENST00000248420;ENST00000221899	.|.	.|.	.|.	4.31|4.31	4.31|4.31	0.51392|0.51392	.|Cactin protein, cactus-binding domain, C-terminal (1);	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.80465|0.80465	0.4628|0.4628	M|M	0.91196|0.91196	3.185|3.185	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.994;0.999	.|D;D	.|0.71656	.|0.966;0.974	D|D	0.83554|0.83554	0.0103|0.0103	6|9	0.49607|0.87932	T|D	0.09|0	.|.	9.6547|9.6547	0.39919|0.39919	0.0981:0.0:0.9019:0.0|0.0981:0.0:0.9019:0.0	.|.	.|685;685	.|Q8WUQ7-2;Q8WUQ7	.|.;CS029_HUMAN	D|V	139|685;685;617	.|.	ENSP00000412459:E139D|ENSP00000221899:L617V	E|L	+|-	3|1	2|0	C19orf29OS|C19orf29	3563145|3563145	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.897000|0.897000	0.52465|0.52465	5.476000|5.476000	0.66793|0.66793	2.398000|2.398000	0.81561|0.81561	0.643000|0.643000	0.83706|0.83706	GAG|CTC		0.592	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			6	216	0	0	0	1	0	6	216				
FAM47A	158724	broad.mit.edu	37	X	34149858	34149858	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:34149858C>A	ENST00000346193.3	-	1	589	c.538G>T	c.(538-540)Ggt>Tgt	p.G180C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	180	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGATGTTTACCAGGCTCAGTG	0.582																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(538-540)Ggt>Tgt		family with sequence similarity 47, member A							66.0	67.0	67.0					X																	34149858		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34149858C>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.538G>T	X.37:g.34149858C>A	ENSP00000345029:p.Gly180Cys						p.G180C	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	589	-			180			Pro-rich.		A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.538G>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	7.928	0.740113	0.15642	.	.	ENSG00000185448	ENST00000346193	T	0.25749	1.78	1.1	-1.94	0.07571	.	.	.	.	.	T	0.20251	0.0487	L	0.61218	1.895	0.09310	N	1	P	0.40731	0.728	B	0.38458	0.274	T	0.10965	-1.0607	9	0.45353	T	0.12	.	2.2559	0.04055	0.4136:0.3305:0.2559:0.0	.	180	Q5JRC9	FA47A_HUMAN	C	180	ENSP00000345029:G180C	ENSP00000345029:G180C	G	-	1	0	FAM47A	34059779	0.011000	0.17503	0.000000	0.03702	0.004000	0.04260	-0.010000	0.12743	-0.708000	0.05015	-0.618000	0.04049	GGT		0.582	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		35	43	1	0	3.21399e-22	1	3.9392e-22	35	43				
CACNA1F	778	broad.mit.edu	37	X	49083523	49083523	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:49083523C>A	ENST00000376265.2	-	9	1246	c.1185G>T	c.(1183-1185)caG>caT	p.Q395H	CACNA1F_ENST00000376251.1_Missense_Mutation_p.Q330H|CACNA1F_ENST00000323022.5_Missense_Mutation_p.Q395H	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	395	Binding to the beta subunit. {ECO:0000250}.				axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCCATCTGCTGCTTCTCCC	0.597																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(1183-1185)caG>caT		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						53.0	37.0	42.0					X																	49083523		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49083523C>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.1185G>T	X.37:g.49083523C>A	ENSP00000365441:p.Gln395His					CACNA1F_ENST00000323022.5_Missense_Mutation_p.Q395H|CACNA1F_ENST00000376251.1_Missense_Mutation_p.Q330H	p.Q395H	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			9	1246	-			395			Binding to the beta subunit (By similarity).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.1185G>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697662	0.48307	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.95482	-3.72;-3.72;-3.72	4.9	4.03	0.46877	.	0.450299	0.25795	N	0.028252	D	0.97025	0.9028	M	0.83692	2.655	0.47862	D	0.999535	D;D	0.60160	0.987;0.978	P;P	0.60682	0.878;0.758	D	0.96586	0.9434	10	0.66056	D	0.02	.	11.5308	0.50610	0.0:0.9077:0.0:0.0923	.	395;395	F5CIQ9;O60840	.;CAC1F_HUMAN	H	330;395;395	ENSP00000365427:Q330H;ENSP00000321618:Q395H;ENSP00000365441:Q395H	ENSP00000321618:Q395H	Q	-	3	2	CACNA1F	48970467	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	1.719000	0.38011	0.866000	0.35629	0.279000	0.19357	CAG		0.597	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		5	13	1	0	5.9392e-07	1	6.43264e-07	5	13				
CHD8	57680	broad.mit.edu	37	14	21896184	21896184	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:21896184C>G	ENST00000557364.1	-	4	1708	c.1445G>C	c.(1444-1446)cGa>cCa	p.R482P	CHD8_ENST00000555962.1_Intron|RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000399982.2_Missense_Mutation_p.R482P|CHD8_ENST00000430710.3_Missense_Mutation_p.R203P			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	482					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATTTAAGACTCGAGGTATGTT	0.547																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(1444-1446)cGa>cCa		chromodomain helicase DNA binding protein 8							134.0	131.0	132.0					14																	21896184		2021	4172	6193	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21896184C>G	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1445G>C	14.37:g.21896184C>G	ENSP00000451601:p.Arg482Pro					CHD8_ENST00000557364.1_Missense_Mutation_p.R482P|CHD8_ENST00000430710.3_Missense_Mutation_p.R203P|CHD8_ENST00000555962.1_Intron	p.R482P	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	3	1509	-	all_cancers(95;0.00121)		482					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.1445G>C	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597093	0.87055	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.54866	0.55;0.55;0.55	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	T	0.62792	0.2457	L	0.27053	0.805	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.64118	-0.6482	10	0.52906	T	0.07	-7.9554	18.4014	0.90518	0.0:1.0:0.0:0.0	.	203	Q9HCK8-2	.	P	203;482;202;482	ENSP00000406288:R203P;ENSP00000382863:R482P;ENSP00000451601:R482P	ENSP00000262707:R202P	R	-	2	0	CHD8	20966024	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.897000	0.75671	2.639000	0.89480	0.655000	0.94253	CGA		0.547	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		7	95	0	0	0	1	0	7	95				
KL	9365	broad.mit.edu	37	13	33591184	33591184	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:33591184C>T	ENST00000380099.3	+	1	614	c.606C>T	c.(604-606)gaC>gaT	p.D202D	KL_ENST00000426690.2_Intron|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	202	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCCTGCAGGACGCCTACGGCG	0.697																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(604-606)gaC>gaT		klotho							10.0	10.0	10.0					13																	33591184		1856	3769	5625	SO:0001819	synonymous_variant	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33591184C>T	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.606C>T	13.37:g.33591184C>T						KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	p.D202D	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	1	614	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	202			Glycosyl hydrolase-1 1.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.606C>T	CCDS9347.1																																																																																				0.697	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			3	14	0	0	0	1	0	3	14				
NR2E1	7101	broad.mit.edu	37	6	108497823	108497823	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:108497823C>G	ENST00000368986.4	+	4	1084	c.376C>G	c.(376-378)Cct>Gct	p.P126A	NR2E1_ENST00000368983.3_Missense_Mutation_p.P163A|NR2E1_ENST00000484978.1_3'UTR	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	126					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GGCGGCGCTCCCTGCGCCGGC	0.706																																						ENST00000368986.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30						c.(376-378)Cct>Gct		nuclear receptor subfamily 2, group E, member 1							19.0	20.0	20.0					6																	108497823		2201	4298	6499	SO:0001583	missense	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108497823C>G	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.376C>G	6.37:g.108497823C>G	ENSP00000357982:p.Pro126Ala					NR2E1_ENST00000368983.3_Missense_Mutation_p.P163A|NR2E1_ENST00000484978.1_3'UTR	p.P126A	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	4	1084	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	126					Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	37	c.376C>G	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759612	0.49468	.	.	ENSG00000112333	ENST00000368986;ENST00000368983;ENST00000426403	T;T	0.54866	0.55;0.55	5.76	5.76	0.90799	Nuclear hormone receptor, ligand-binding (1);	0.215254	0.48286	N	0.000182	T	0.34106	0.0886	L	0.57536	1.79	0.80722	D	1	B	0.27853	0.191	B	0.24701	0.055	T	0.39502	-0.9611	10	0.07990	T	0.79	.	19.9625	0.97256	0.0:1.0:0.0:0.0	.	126	Q9Y466	NR2E1_HUMAN	A	126;163;44	ENSP00000357982:P126A;ENSP00000357979:P163A	ENSP00000357979:P163A	P	+	1	0	NR2E1	108604516	1.000000	0.71417	0.976000	0.42696	0.335000	0.28730	5.670000	0.68088	2.726000	0.93360	0.655000	0.94253	CCT		0.706	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			5	15	0	0	0	1	0	5	15				
GRM8	2918	broad.mit.edu	37	7	126882899	126882899	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:126882899C>A	ENST00000339582.2	-	2	1168	c.360G>T	c.(358-360)gtG>gtT	p.V120V	GRM8_ENST00000358373.3_Silent_p.V120V|GRM8_ENST00000444921.2_Silent_p.V120V|GRM8_ENST00000405249.1_Silent_p.V120V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	120					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TTAATGCCTGCACGAATGTTA	0.498										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(358-360)gtG>gtT		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						142.0	119.0	127.0					7																	126882899		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126882899C>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.360G>T	7.37:g.126882899C>A		HNSCC(24;0.065)				GRM8_ENST00000358373.3_Silent_p.V120V|GRM8_ENST00000444921.2_Silent_p.V120V|GRM8_ENST00000405249.1_Silent_p.V120V	p.V120V			O00222	GRM8_HUMAN			2	1168	-		Prostate(267;0.186)	120					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.360G>T	CCDS5794.1																																																																																				0.498	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			28	41	1	0	9.39395e-14	1	1.08462e-13	28	41				
IL4R	3566	broad.mit.edu	37	16	27363900	27363900	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:27363900C>T	ENST00000395762.2	+	7	812	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	IL4R_ENST00000170630.2_Missense_Mutation_p.R185C|IL4R_ENST00000380922.3_Missense_Mutation_p.R170C|IL4R_ENST00000449195.1_Missense_Mutation_p.R185C|IL4R_ENST00000543915.2_Missense_Mutation_p.R185C	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	185	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						ACCCTCCCTCCGCATCGCAGC	0.602																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(553-555)Cgc>Tgc		interleukin 4 receptor							98.0	91.0	93.0					16																	27363900		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27363900C>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.553C>T	16.37:g.27363900C>T	ENSP00000379111:p.Arg185Cys					IL4R_ENST00000543915.2_Missense_Mutation_p.R185C|IL4R_ENST00000449195.1_Missense_Mutation_p.R185C|IL4R_ENST00000380922.3_Missense_Mutation_p.R170C|IL4R_ENST00000170630.2_Missense_Mutation_p.R185C	p.R185C	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			7	812	+			185			Fibronectin type-III.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.553C>T	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165283	0.38217	.	.	ENSG00000077238	ENST00000380925;ENST00000449195;ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	3.37	1.31	0.21738	Fibronectin, type III (3);Immunoglobulin-like fold (1);	5.590450	0.00166	N	0.000000	T	0.70736	0.3258	L	0.57536	1.79	0.09310	N	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	B;P;P;P	0.52424	0.4;0.504;0.504;0.698	T	0.50890	-0.8774	10	0.52906	T	0.07	-22.369	3.752	0.08570	0.2534:0.6139:0.0:0.1327	.	170;185;185;185	B4E076;B9EGC0;P24394;P24394-2	.;.;IL4RA_HUMAN;.	C	185;185;185;185;170;185	ENSP00000410322:R185C;ENSP00000379111:R185C;ENSP00000441667:R185C;ENSP00000370309:R170C;ENSP00000170630:R185C	ENSP00000170630:R185C	R	+	1	0	IL4R	27271401	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	0.154000	0.16343	0.396000	0.25283	0.555000	0.69702	CGC		0.602	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			21	107	0	0	0	1	0	21	107				
DQX1	165545	broad.mit.edu	37	2	74752215	74752215	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:74752215C>G	ENST00000404568.3	-	3	571	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	DQX1_ENST00000393951.2_Missense_Mutation_p.E118Q|DQX1_ENST00000495597.1_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	118	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AGGTCCATCTCATCAGCAACC	0.617																																						ENST00000404568.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(352-354)Gag>Cag		DEAQ box RNA-dependent ATPase 1							63.0	66.0	65.0					2																	74752215		2203	4300	6503	SO:0001583	missense	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74752215C>G	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.352G>C	2.37:g.74752215C>G	ENSP00000384621:p.Glu118Gln					DQX1_ENST00000393951.2_Missense_Mutation_p.E118Q	p.E118Q	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN			3	571	-			118			Helicase ATP-binding.		Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.352G>C	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	C	32	5.165809	0.94768	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.22539	1.95;1.95	5.21	5.21	0.72293	DEAD-like helicase (2);	.	.	.	.	T	0.55909	0.1950	M	0.92026	3.265	0.53688	D	0.999971	D	0.89917	1.0	D	0.83275	0.996	T	0.65594	-0.6130	9	0.87932	D	0	.	16.2783	0.82656	0.0:1.0:0.0:0.0	.	118	Q8TE96	DQX1_HUMAN	Q	118	ENSP00000377523:E118Q;ENSP00000384621:E118Q	ENSP00000377523:E118Q	E	-	1	0	DQX1	74605723	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.545000	0.67237	2.694000	0.91930	0.655000	0.94253	GAG		0.617	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		10	85	0	0	0	1	0	10	85				
PRPF8	10594	broad.mit.edu	37	17	1585124	1585124	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:1585124C>G	ENST00000572621.1	-	4	908	c.643G>C	c.(643-645)Gac>Cac	p.D215H	PRPF8_ENST00000304992.6_Missense_Mutation_p.D215H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	215					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTCCTGCTGTCCCTCAACGGC	0.537																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(643-645)Gac>Cac		pre-mRNA processing factor 8							93.0	100.0	97.0					17																	1585124		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1585124C>G	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.643G>C	17.37:g.1585124C>G	ENSP00000460348:p.Asp215His					PRPF8_ENST00000304992.6_Missense_Mutation_p.D215H	p.D215H			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	4	908	-			215					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.643G>C	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027574	0.75390	.	.	ENSG00000174231	ENST00000304992	T	0.80480	-1.38	5.7	5.7	0.88788	Pre-mRNA-processing-splicing factor 8 (1);	0.000000	0.85682	D	0.000000	T	0.77157	0.4089	L	0.50919	1.6	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.70684	-0.4804	10	0.17832	T	0.49	.	19.8379	0.96666	0.0:1.0:0.0:0.0	.	215	Q6P2Q9	PRP8_HUMAN	H	215	ENSP00000304350:D215H	ENSP00000304350:D215H	D	-	1	0	PRPF8	1531874	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.750000	0.85110	2.694000	0.91930	0.555000	0.69702	GAC		0.537	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			5	136	0	0	0	1	0	5	136				
EPB41L3	23136	broad.mit.edu	37	18	5415927	5415927	+	Missense_Mutation	SNP	C	C	A	rs201249884		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:5415927C>A	ENST00000341928.2	-	13	2297	c.1957G>T	c.(1957-1959)Gct>Tct	p.A653S	EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A653S|EPB41L3_ENST00000544123.1_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	653	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGAGTGAGAGCGTATGGCACT	0.572																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1957-1959)Gct>Tct		erythrocyte membrane protein band 4.1-like 3							168.0	120.0	136.0					18																	5415927		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5415927C>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1957G>T	18.37:g.5415927C>A	ENSP00000343158:p.Ala653Ser					EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A653S|EPB41L3_ENST00000427684.2_Intron	p.A653S	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			13	2297	-			653			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1957G>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030286	0.75504	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	D;D	0.82255	-1.59;-1.59	5.52	5.52	0.82312	.	0.164099	0.42172	D	0.000744	T	0.81564	0.4849	N	0.04880	-0.145	0.80722	D	1	D	0.76494	0.999	D	0.65233	0.933	T	0.83125	-0.0116	10	0.33141	T	0.24	.	19.4559	0.94889	0.0:1.0:0.0:0.0	.	653	Q9Y2J2	E41L3_HUMAN	S	653	ENSP00000343158:A653S;ENSP00000341138:A653S	ENSP00000343158:A653S	A	-	1	0	EPB41L3	5405927	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	5.920000	0.70017	2.586000	0.87340	0.563000	0.77884	GCT		0.572	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		35	52	1	0	1.36615e-20	1	1.65741e-20	35	52				
VN1R2	317701	broad.mit.edu	37	19	53762018	53762018	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:53762018C>A	ENST00000341702.3	+	1	474	c.390C>A	c.(388-390)caC>caA	p.H130Q		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	130					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TTCTCAGGCACCTGACTGTAG	0.373																																						ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(388-390)caC>caA		vomeronasal 1 receptor 2							86.0	90.0	88.0					19																	53762018		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762018C>A	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.390C>A	19.37:g.53762018C>A	ENSP00000351244:p.His130Gln						p.H130Q	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	474	+			130					A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.390C>A	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314100	0.40996	.	.	ENSG00000196131	ENST00000341702	T	0.37915	1.17	2.94	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.47154	0.1430	L	0.57130	1.785	0.23361	N	0.997831	P	0.51240	0.943	P	0.57548	0.823	T	0.24404	-1.0161	9	0.62326	D	0.03	.	8.2908	0.31956	0.0:0.8741:0.0:0.1259	.	130	Q8NFZ6	VN1R2_HUMAN	Q	130	ENSP00000351244:H130Q	ENSP00000351244:H130Q	H	+	3	2	VN1R2	58453830	0.015000	0.18098	0.351000	0.25721	0.790000	0.44656	0.207000	0.17395	0.826000	0.34661	0.596000	0.82720	CAC		0.373	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		23	39	1	0	2.79863e-10	1	3.13045e-10	23	39				
PCNT	5116	broad.mit.edu	37	21	47831330	47831330	+	Silent	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:47831330G>T	ENST00000359568.5	+	28	5450	c.5343G>T	c.(5341-5343)ggG>ggT	p.G1781G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1781					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCCAGGCCGGGGGCCCTCGTG	0.697																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(5341-5343)ggG>ggT		pericentrin							26.0	32.0	30.0					21																	47831330		2198	4295	6493	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47831330G>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5343G>T	21.37:g.47831330G>T						PCNT_ENST00000480896.1_3'UTR	p.G1781G	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			28	5450	+	Breast(49;0.112)		1781					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.5343G>T	CCDS33592.1																																																																																				0.697	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		23	27	1	0	1.50039e-11	1	1.69681e-11	23	27				
TBC1D13	54662	broad.mit.edu	37	9	131565604	131565604	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:131565604C>G	ENST00000372648.5	+	8	769	c.619C>G	c.(619-621)Cac>Gac	p.H207D	TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000223865.8_Intron|TBC1D13_ENST00000539497.1_Missense_Mutation_p.H26D	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	207	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CTGTGAGGCCCACTGGGAGGT	0.552																																						ENST00000372648.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						c.(619-621)Cac>Gac		TBC1 domain family, member 13							126.0	105.0	112.0					9																	131565604		2203	4300	6503	SO:0001583	missense	54662					intracellular	Rab GTPase activator activity	g.chr9:131565604C>G	AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.619C>G	9.37:g.131565604C>G	ENSP00000361731:p.His207Asp					TBC1D13_ENST00000223865.8_Intron|TBC1D13_ENST00000539497.1_Missense_Mutation_p.H26D|TBC1D13_ENST00000466056.1_3'UTR	p.H207D	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN			8	769	+			207			Rab-GAP TBC.		A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Missense_Mutation	SNP	ENST00000372648.5	37	c.619C>G	CCDS6911.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911323	0.92178	.	.	ENSG00000107021	ENST00000372648;ENST00000539497	T;T	0.04454	3.62;3.62	5.48	5.48	0.80851	Rab-GAP/TBC domain (3);	0.000000	0.85682	D	0.000000	T	0.34978	0.0916	H	0.96239	3.79	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.52366	-0.8585	10	0.59425	D	0.04	-28.983	18.3469	0.90325	0.0:1.0:0.0:0.0	.	207	Q9NVG8	TBC13_HUMAN	D	207;26	ENSP00000361731:H207D;ENSP00000437751:H26D	ENSP00000361731:H207D	H	+	1	0	TBC1D13	130605425	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.601000	0.82783	2.573000	0.86826	0.655000	0.94253	CAC		0.552	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054496.1	NM_018201		11	54	0	0	0	1	0	11	54				
MBD6	114785	broad.mit.edu	37	12	57921681	57921681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:57921681C>T	ENST00000355673.3	+	9	2643	c.2287C>T	c.(2287-2289)Cag>Tag	p.Q763*	MBD6_ENST00000431731.2_Nonsense_Mutation_p.Q763*	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	763	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CAGCCTGTTGCAGCCTCCTGG	0.612																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(2287-2289)Cag>Tag		methyl-CpG binding domain protein 6							76.0	84.0	81.0					12																	57921681		2203	4299	6502	SO:0001587	stop_gained	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57921681C>T	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2287C>T	12.37:g.57921681C>T	ENSP00000347896:p.Gln763*					MBD6_ENST00000431731.2_Nonsense_Mutation_p.Q763*	p.Q763*	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			9	2643	+			763			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Nonsense_Mutation	SNP	ENST00000355673.3	37	c.2287C>T	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	C	41	8.607230	0.98884	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000300263	.	.	.	5.04	4.09	0.47781	.	0.000000	0.48286	D	0.000199	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-4.3456	12.5889	0.56432	0.1658:0.8342:0.0:0.0	.	.	.	.	X	763;763;227	.	ENSP00000300263:Q227X	Q	+	1	0	MBD6	56207948	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.089000	0.30890	2.786000	0.95864	0.561000	0.74099	CAG		0.612	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			62	85	0	0	0	1	0	62	85				
GRIA3	2892	broad.mit.edu	37	X	122538684	122538684	+	Silent	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:122538684C>A	ENST00000371251.1	+	10	1471	c.1419C>A	c.(1417-1419)tcC>tcA	p.S473S	GRIA3_ENST00000371256.5_Silent_p.S473S|GRIA3_ENST00000541091.1_Silent_p.S457S|GRIA3_ENST00000542149.1_Silent_p.S473S|GRIA3_ENST00000264357.5_Silent_p.S473S			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	473					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	ACAAATTGTCCATCGTTGGTG	0.418																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(1417-1419)tcC>tcA		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						208.0	174.0	186.0					X																	122538684		2203	4300	6503	SO:0001819	synonymous_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122538684C>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1419C>A	X.37:g.122538684C>A						GRIA3_ENST00000371256.5_Silent_p.S473S|GRIA3_ENST00000371251.1_Silent_p.S473S|GRIA3_ENST00000542149.1_Silent_p.S473S|GRIA3_ENST00000541091.1_Silent_p.S457S	p.S473S	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			10	1711	+			473					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	c.1419C>A	CCDS14604.1																																																																																				0.418	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		61	109	1	0	5.73332e-34	1	7.13678e-34	61	109				
FKBP15	23307	broad.mit.edu	37	9	115932873	115932873	+	Silent	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:115932873G>T	ENST00000238256.3	-	25	2812	c.2695C>A	c.(2695-2697)Cgg>Agg	p.R899R		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	899					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						AACTCTCTCCGTAAGGACTGG	0.433																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(2695-2697)Cgg>Agg		FK506 binding protein 15, 133kDa							197.0	189.0	192.0					9																	115932873		1936	4149	6085	SO:0001819	synonymous_variant	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115932873G>T	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.2695C>A	9.37:g.115932873G>T							p.R899R	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			25	2812	-			899					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	ENST00000238256.3	37	c.2695C>A	CCDS48007.1																																																																																				0.433	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		49	61	1	0	2.0833e-19	1	2.51046e-19	49	61				
EGF	1950	broad.mit.edu	37	4	110932604	110932604	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:110932604C>G	ENST00000265171.5	+	24	4062	c.3617C>G	c.(3616-3618)aCt>aGt	p.T1206S	EGF_ENST00000509793.1_Missense_Mutation_p.T1164S|EGF_ENST00000503392.1_Missense_Mutation_p.T1165S	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1206					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	ATGGAGCTGACTCAGTGAAAA	0.443																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(3616-3618)aCt>aGt		epidermal growth factor	Sulindac(DB00605)						89.0	96.0	93.0					4																	110932604		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110932604C>G	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.3617C>G	4.37:g.110932604C>G	ENSP00000265171:p.Thr1206Ser					EGF_ENST00000503392.1_Missense_Mutation_p.T1165S|EGF_ENST00000509793.1_Missense_Mutation_p.T1164S	p.T1206S	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	24	4062	+		Hepatocellular(203;0.0893)	1206					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.3617C>G	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566476	0.27915	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.88509	-2.39;-2.3;-2.06	3.63	-1.23	0.09465	.	0.733388	0.11965	N	0.512407	T	0.77870	0.4195	N	0.24115	0.695	0.09310	N	1	B;B;B	0.30068	0.267;0.253;0.267	B;B;B	0.31337	0.06;0.128;0.06	T	0.66968	-0.5789	10	0.72032	D	0.01	.	3.3463	0.07136	0.189:0.353:0.0:0.458	.	1165;1164;1206	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	S	1164;1206;1165	ENSP00000424316:T1164S;ENSP00000265171:T1206S;ENSP00000421384:T1165S	ENSP00000265171:T1206S	T	+	2	0	EGF	111152053	0.000000	0.05858	0.000000	0.03702	0.358000	0.29455	-2.341000	0.01100	-0.337000	0.08426	0.655000	0.94253	ACT		0.443	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			16	99	0	0	0	1	0	16	99				
NMT1	4836	broad.mit.edu	37	17	43173654	43173654	+	Splice_Site	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:43173654G>C	ENST00000592782.1	+	6	727		c.e6+1		NMT1_ENST00000590114.1_Splice_Site|NMT1_ENST00000258960.2_Splice_Site			P30419	NMT1_HUMAN	N-myristoyltransferase 1						apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TTCTTTTGTGGTAAGTTGTGG	0.468																																						ENST00000592782.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8						c.e6+1		N-myristoyltransferase 1							126.0	116.0	120.0					17																	43173654		2203	4300	6503	SO:0001630	splice_region_variant	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43173654G>C		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.596+1G>C	17.37:g.43173654G>C						NMT1_ENST00000258960.2_Splice_Site|NMT1_ENST00000590114.1_Splice_Site				P30419	NMT1_HUMAN			6	727	+		Prostate(33;0.155)						A8K7C1|Q9UE09	Splice_Site	SNP	ENST00000592782.1	37		CCDS11494.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273087	0.59649	.	.	ENSG00000136448	ENST00000258960	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8328	0.92148	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NMT1	40529180	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	9.657000	0.98554	2.677000	0.91161	0.563000	0.77884	.		0.468	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079	Intron	5	67	0	0	0	1	0	5	67				
TCN1	6947	broad.mit.edu	37	11	59629092	59629092	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:59629092C>A	ENST00000257264.3	-	4	568	c.464G>T	c.(463-465)tGt>tTt	p.C155F	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	155	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATTGAACAGACACAAGGCCAA	0.433																																						ENST00000257264.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(463-465)tGt>tTt		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						115.0	112.0	113.0					11																	59629092		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59629092C>A	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.464G>T	11.37:g.59629092C>A	ENSP00000257264:p.Cys155Phe					TCN1_ENST00000532419.1_5'UTR	p.C155F	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			4	568	-		all_epithelial(135;0.198)	155					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.464G>T	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135189	0.56828	.	.	ENSG00000134827	ENST00000257264	T	0.71934	-0.61	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000006	D	0.84606	0.5509	M	0.82323	2.585	0.43271	D	0.995225	D	0.89917	1.0	D	0.91635	0.999	D	0.86728	0.1946	10	0.87932	D	0	.	14.4164	0.67153	0.0:1.0:0.0:0.0	.	155	P20061	TCO1_HUMAN	F	155	ENSP00000257264:C155F	ENSP00000257264:C155F	C	-	2	0	TCN1	59385668	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	3.665000	0.54532	2.552000	0.86080	0.655000	0.94253	TGT		0.433	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		22	83	1	0	3.8784e-16	1	4.5888e-16	22	83				
NLRP12	91662	broad.mit.edu	37	19	54313468	54313468	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:54313468C>T	ENST00000324134.6	-	3	1613	c.1445G>A	c.(1444-1446)cGg>cAg	p.R482Q	NLRP12_ENST00000391775.3_Missense_Mutation_p.R482Q|NLRP12_ENST00000345770.5_Missense_Mutation_p.R482Q|NLRP12_ENST00000535162.1_Missense_Mutation_p.R482Q|NLRP12_ENST00000351894.4_Missense_Mutation_p.R482Q|NLRP12_ENST00000391773.1_Missense_Mutation_p.R482Q|NLRP12_ENST00000391772.1_Missense_Mutation_p.R482Q|NLRP12_ENST00000354278.3_Missense_Mutation_p.R482Q	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	482	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCCGTGCTTCCGGAGGTCCTG	0.567																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(1444-1446)cGg>cAg		NLR family, pyrin domain containing 12							97.0	101.0	99.0					19																	54313468		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313468C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1445G>A	19.37:g.54313468C>T	ENSP00000319377:p.Arg482Gln					NLRP12_ENST00000535162.1_Missense_Mutation_p.R482Q|NLRP12_ENST00000391772.1_Missense_Mutation_p.R482Q|NLRP12_ENST00000345770.5_Missense_Mutation_p.R482Q|NLRP12_ENST00000391775.3_Missense_Mutation_p.R482Q|NLRP12_ENST00000391773.1_Missense_Mutation_p.R482Q|NLRP12_ENST00000351894.4_Missense_Mutation_p.R482Q|NLRP12_ENST00000354278.3_Missense_Mutation_p.R482Q	p.R482Q	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1613	-	Ovarian(34;0.19)		482			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.1445G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680166	0.29872	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	4.43	-1.98	0.07480	NACHT nucleoside triphosphatase (1);	1.010880	0.07971	N	0.983969	T	0.73048	0.3537	L	0.48935	1.535	0.09310	N	1	B;B;B;B	0.26547	0.056;0.056;0.056;0.152	B;B;B;B	0.13407	0.009;0.005;0.009;0.008	T	0.60409	-0.7269	10	0.59425	D	0.04	.	4.8824	0.13686	0.1422:0.4465:0.0:0.4113	.	482;482;482;482	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	Q	482	ENSP00000319377:R482Q;ENSP00000438030:R482Q;ENSP00000340473:R482Q;ENSP00000346231:R482Q;ENSP00000375655:R482Q;ENSP00000375653:R482Q;ENSP00000375652:R482Q	ENSP00000319377:R482Q	R	-	2	0	NLRP12	59005280	0.000000	0.05858	0.397000	0.26308	0.471000	0.32888	-0.357000	0.07651	-0.167000	0.10871	0.485000	0.47835	CGG		0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		47	80	0	0	0	1	0	47	80				
TTN	7273	broad.mit.edu	37	2	179433972	179433972	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179433972C>T	ENST00000591111.1	-	276	72188	c.71964G>A	c.(71962-71964)ggG>ggA	p.G23988G	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.G23061G|TTN_ENST00000342175.6_Silent_p.G16756G|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.G25629G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.G16689G|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.G16564G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23988	Fibronectin type-III 74. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTGGATCCCCCATCCAACA	0.398																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(76885-76887)ggG>ggA		titin							195.0	196.0	195.0					2																	179433972		1858	4088	5946	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433972C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71964G>A	2.37:g.179433972C>T						TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G23061G|TTN_ENST00000460472.2_Silent_p.G16564G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.G16756G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.G16689G|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.G23988G|TTN-AS1_ENST00000590807.1_RNA	p.G25629G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	77111	-			23988					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.76887G>A																																																																																					0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		92	142	0	0	0	1	0	92	142				
SYNE2	23224	broad.mit.edu	37	14	64416650	64416650	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:64416650C>T	ENST00000344113.4	+	7	728	c.516C>T	c.(514-516)tgC>tgT	p.C172C	SYNE2_ENST00000356081.3_Silent_p.C172C|SYNE2_ENST00000341472.5_Silent_p.C172C|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Silent_p.C172C|SYNE2_ENST00000554584.1_Silent_p.C172C	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	172	Actin-binding.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTAAGAAATGCTCTAAAGTGC	0.473																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(514-516)tgC>tgT		spectrin repeat containing, nuclear envelope 2							174.0	175.0	175.0					14																	64416650		2006	4173	6179	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64416650C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.516C>T	14.37:g.64416650C>T						SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000356081.3_Silent_p.C172C|SYNE2_ENST00000341472.5_Silent_p.C172C|SYNE2_ENST00000344113.4_Silent_p.C172C|SYNE2_ENST00000554584.1_Silent_p.C172C	p.C172C	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	7	746	+			172			Actin-binding.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.516C>T	CCDS41963.1																																																																																				0.473	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		58	114	0	0	0	1	0	58	114				
CREG2	200407	broad.mit.edu	37	2	101971791	101971791	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:101971791G>C	ENST00000324768.5	-	3	786	c.649C>G	c.(649-651)Cag>Gag	p.Q217E		NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	217						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AGCGTTAACTGGACACATCGG	0.398																																						ENST00000324768.4																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						c.(649-651)Cag>Gag		cellular repressor of E1A-stimulated genes 2							74.0	74.0	74.0					2																	101971791		2203	4300	6503	SO:0001583	missense	200407					extracellular region	FMN binding	g.chr2:101971791G>C	AB046109	CCDS2052.1	2q12.1	2007-08-01			ENSG00000175874	ENSG00000175874			14272	protein-coding gene	gene with protein product						12408961	Standard	NM_153836		Approved		uc002tba.2	Q8IUH2	OTTHUMG00000130692	ENST00000324768.5:c.649C>G	2.37:g.101971791G>C	ENSP00000315203:p.Gln217Glu						p.Q217E	NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN			3	786	-			217					Q86X03|Q8N540|Q8N9E3	Missense_Mutation	SNP	ENST00000324768.5	37	c.649C>G	CCDS2052.1	.	.	.	.	.	.	.	.	.	.	G	9.874	1.199771	0.22121	.	.	ENSG00000175874	ENST00000324768	T	0.41758	0.99	5.27	4.3	0.51218	FMN-binding split barrel-related (1);FMN-binding split barrel (1);	0.133333	0.49305	D	0.000160	T	0.23688	0.0573	N	0.08118	0	0.09310	N	0.999998	B	0.17852	0.024	B	0.19666	0.026	T	0.19321	-1.0309	10	0.87932	D	0	.	10.1318	0.42682	0.0:0.0:0.6523:0.3477	.	217	Q8IUH2	CREG2_HUMAN	E	217	ENSP00000315203:Q217E	ENSP00000315203:Q217E	Q	-	1	0	CREG2	101338223	0.991000	0.36638	0.764000	0.31436	0.066000	0.16364	2.864000	0.48404	2.450000	0.82876	0.462000	0.41574	CAG		0.398	CREG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253188.2	NM_153836		6	27	0	0	0	1	0	6	27				
OPA1	4976	broad.mit.edu	37	3	193332690	193332690	+	Missense_Mutation	SNP	C	C	G	rs368488165		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:193332690C>G	ENST00000392438.3	+	2	445	c.211C>G	c.(211-213)Cgt>Ggt	p.R71G	OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361828.2_Missense_Mutation_p.R71G|OPA1_ENST00000361908.3_Missense_Mutation_p.R71G|OPA1_ENST00000361150.2_Missense_Mutation_p.R71G|OPA1_ENST00000361510.2_Missense_Mutation_p.R71G|OPA1_ENST00000361715.2_Missense_Mutation_p.R71G	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	71					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CCTTCCTTTACGTAAACTGAA	0.403																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(211-213)Cgt>Ggt		optic atrophy 1 (autosomal dominant)							70.0	62.0	65.0					3																	193332690		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193332690C>G	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.211C>G	3.37:g.193332690C>G	ENSP00000376233:p.Arg71Gly					OPA1_ENST00000361828.2_Missense_Mutation_p.R71G|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361150.2_Missense_Mutation_p.R71G|OPA1_ENST00000361908.3_Missense_Mutation_p.R71G|OPA1_ENST00000392438.3_Missense_Mutation_p.R71G|OPA1_ENST00000361715.2_Missense_Mutation_p.R71G	p.R71G	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	2	445	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		71					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.211C>G	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150399	0.57151	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000392437;ENST00000392436	D;D;D;D;D;D;D;T	0.95690	-3.39;-3.37;-3.48;-3.33;-3.36;-3.78;-2.25;-1.33	5.96	5.1	0.69264	.	0.296371	0.37053	N	0.002269	D	0.93327	0.7873	L	0.59436	1.845	0.47819	D	0.99952	B;B;B;B;B;B;B;B	0.29341	0.011;0.083;0.0;0.008;0.028;0.057;0.039;0.242	B;B;B;B;B;B;B;B	0.24269	0.017;0.017;0.001;0.01;0.013;0.026;0.017;0.052	D	0.91721	0.5389	10	0.51188	T	0.08	-4.048	14.0731	0.64872	0.0:0.9285:0.0:0.0715	.	71;71;71;71;71;71;71;71	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	G	71	ENSP00000354681:R71G;ENSP00000376233:R71G;ENSP00000355324:R71G;ENSP00000355311:R71G;ENSP00000354429:R71G;ENSP00000354781:R71G;ENSP00000376232:R71G;ENSP00000376231:R71G	ENSP00000354781:R71G	R	+	1	0	OPA1	194815384	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.212000	0.32394	1.538000	0.49270	0.650000	0.86243	CGT		0.403	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		6	32	0	0	0	1	0	6	32				
POM121L12	285877	broad.mit.edu	37	7	53103708	53103708	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:53103708C>A	ENST00000408890.4	+	1	360	c.344C>A	c.(343-345)gCc>gAc	p.A115D		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	115										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTCTCCTGTGCCTGGGAGGGT	0.716																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(343-345)gCc>gAc		POM121 transmembrane nucleoporin-like 12							26.0	32.0	30.0					7																	53103708		1983	4131	6114	SO:0001583	missense	285877							g.chr7:53103708C>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.344C>A	7.37:g.53103708C>A	ENSP00000386133:p.Ala115Asp						p.A115D	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	360	+			115					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.344C>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034333	0.35893	.	.	ENSG00000221900	ENST00000408890	T	0.23754	1.89	1.74	1.74	0.24563	.	.	.	.	.	T	0.30541	0.0768	N	0.22421	0.69	0.09310	N	1	D	0.71674	0.998	D	0.69479	0.964	T	0.07770	-1.0755	9	0.52906	T	0.07	.	6.9605	0.24595	0.0:1.0:0.0:0.0	.	115	Q8N7R1	P1L12_HUMAN	D	115	ENSP00000386133:A115D	ENSP00000386133:A115D	A	+	2	0	POM121L12	53071202	0.001000	0.12720	0.002000	0.10522	0.007000	0.05969	0.989000	0.29629	1.273000	0.44346	0.462000	0.41574	GCC		0.716	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		19	28	1	0	4.96729e-08	1	5.45413e-08	19	28				
RAD52	5893	broad.mit.edu	37	12	1023247	1023247	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:1023247G>C	ENST00000358495.3	-	11	1146	c.1008C>G	c.(1006-1008)ccC>ccG	p.P336P	RAD52_ENST00000430095.2_Silent_p.P336P|RAD52_ENST00000539046.1_Silent_p.P259P|RAD52_ENST00000535376.1_5'UTR	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	336					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			CCCCTGCATCGGGAGTCACAG	0.498								Homologous recombination																														ENST00000358495.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1006-1008)ccC>ccG	Homologous recombination	RAD52 homolog (S. cerevisiae)							91.0	85.0	87.0					12																	1023247		1924	4134	6058	SO:0001819	synonymous_variant	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1023247G>C		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.1008C>G	12.37:g.1023247G>C						RAD52_ENST00000539046.1_Silent_p.P259P|RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000430095.2_Silent_p.P336P	p.P336P	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		11	1146	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		336					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Silent	SNP	ENST00000358495.3	37	c.1008C>G	CCDS8507.2																																																																																				0.498	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		4	51	0	0	0	1	0	4	51				
GAS6	2621	broad.mit.edu	37	13	114530081	114530081	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:114530081G>C	ENST00000327773.6	-	12	1511	c.1365C>G	c.(1363-1365)gaC>gaG	p.D455E	GAS6_ENST00000355761.4_Missense_Mutation_p.D401E|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Missense_Mutation_p.D498E|GAS6_ENST00000450766.1_Missense_Mutation_p.D182E|GAS6_ENST00000418959.3_Missense_Mutation_p.D156E	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	498	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GGATGGTGGTGTCTTCTCCGT	0.562																																						ENST00000357389.3																			0				central_nervous_system(4)|ovary(1)	5						c.(1492-1494)gaC>gaG		growth arrest-specific 6							173.0	133.0	147.0					13																	114530081		2203	4300	6503	SO:0001583	missense	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114530081G>C		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1365C>G	13.37:g.114530081G>C	ENSP00000331831:p.Asp455Glu					GAS6_ENST00000480426.1_5'UTR|GAS6_ENST00000355761.4_Missense_Mutation_p.D401E|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000327773.6_Missense_Mutation_p.D455E|GAS6_ENST00000450766.1_Missense_Mutation_p.D182E|GAS6_ENST00000418959.3_Missense_Mutation_p.D156E	p.D498E			Q14393	GAS6_HUMAN			12	1646	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	498			Laminin G-like 1.		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	37	c.1494C>G	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	G	4.819	0.152182	0.09185	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	D;D;D;D;D	0.89939	-2.58;-2.17;-1.9;-1.91;-2.59	4.55	1.07	0.20283	Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	D	0.90566	0.7043	M	0.75447	2.3	0.53005	D	0.999966	D;D;B	0.61697	0.987;0.99;0.043	P;D;B	0.69824	0.847;0.966;0.006	D	0.85343	0.1097	9	0.19590	T	0.45	-30.8535	2.7155	0.05186	0.2048:0.1459:0.5019:0.1474	.	498;182;455	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	E	498;401;182;156;455	ENSP00000349962:D498E;ENSP00000348003:D401E;ENSP00000416498:D182E;ENSP00000400117:D156E;ENSP00000331831:D455E	ENSP00000331831:D455E	D	-	3	2	GAS6	113583862	1.000000	0.71417	0.004000	0.12327	0.247000	0.25773	1.055000	0.30467	0.301000	0.22738	0.462000	0.41574	GAC		0.562	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		9	70	0	0	0	1	0	9	70				
SLITRK2	84631	broad.mit.edu	37	X	144905889	144905889	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:144905889G>T	ENST00000370490.1	+	1	6201	c.1946G>T	c.(1945-1947)gGa>gTa	p.G649V	SLITRK2_ENST00000413937.2_Missense_Mutation_p.G649V|SLITRK2_ENST00000434188.2_Missense_Mutation_p.G649V|SLITRK2_ENST00000447897.2_Missense_Mutation_p.G649V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G649V			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	649					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CGCCGAAAGGGAGTGCCGAGC	0.443																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(1945-1947)gGa>gTa		SLIT and NTRK-like family, member 2							103.0	89.0	94.0					X																	144905889		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144905889G>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1946G>T	X.37:g.144905889G>T	ENSP00000359521:p.Gly649Val					SLITRK2_ENST00000434188.2_Missense_Mutation_p.G649V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G649V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.G649V|SLITRK2_ENST00000447897.2_Missense_Mutation_p.G649V	p.G649V			Q9H156	SLIK2_HUMAN			1	6201	+	Acute lymphoblastic leukemia(192;6.56e-05)		649					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.1946G>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276498	0.80580	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.50813	0.78;0.73;0.73;0.73;0.73;0.73	5.91	5.91	0.95273	.	0.055367	0.64402	D	0.000001	T	0.63931	0.2553	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	D	0.65987	0.94	T	0.65784	-0.6084	10	0.87932	D	0	-6.3691	16.462	0.84059	0.0:0.0:1.0:0.0	.	649	Q9H156	SLIK2_HUMAN	V	649	ENSP00000334374:G649V;ENSP00000411681:G649V;ENSP00000359521:G649V;ENSP00000397015:G649V;ENSP00000407347:G649V;ENSP00000412010:G649V	ENSP00000334374:G649V	G	+	2	0	SLITRK2	144713581	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.473000	0.66774	2.493000	0.84123	0.600000	0.82982	GGA		0.443	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		60	102	1	0	7.37877e-41	1	9.26546e-41	60	102				
SLC35C1	55343	broad.mit.edu	37	11	45832798	45832798	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:45832798C>G	ENST00000314134.3	+	2	2403	c.1007C>G	c.(1006-1008)gCc>gGc	p.A336G	CTD-2210P24.6_ENST00000534128.1_lincRNA|SLC35C1_ENST00000442528.2_Missense_Mutation_p.A323G|SLC35C1_ENST00000456334.1_Missense_Mutation_p.A323G	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	336					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		GGCTCCTCCGCCTACACCTGG	0.627																																						ENST00000314134.3																			0				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(1006-1008)gCc>gGc		solute carrier family 35 (GDP-fucose transporter), member C1							21.0	23.0	23.0					11																	45832798		2203	4299	6502	SO:0001583	missense	55343					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity	g.chr11:45832798C>G		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"""Solute carriers"""	20197	protein-coding gene	gene with protein product		605881	"""solute carrier family 35, member C1"""			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.1007C>G	11.37:g.45832798C>G	ENSP00000313318:p.Ala336Gly					SLC35C1_ENST00000456334.1_Missense_Mutation_p.A323G|SLC35C1_ENST00000442528.2_Missense_Mutation_p.A323G	p.A336G	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN		GBM - Glioblastoma multiforme(35;0.227)	2	2403	+			336					B2RDB2|Q9BV76|Q9NUJ8	Missense_Mutation	SNP	ENST00000314134.3	37	c.1007C>G	CCDS7914.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908619	0.72868	.	.	ENSG00000181830	ENST00000442528;ENST00000456334;ENST00000314134	T;T;T	0.64438	-0.1;-0.1;-0.1	5.75	4.84	0.62591	Domain of unknown function DUF250 (1);	0.150198	0.64402	D	0.000013	T	0.60856	0.2301	M	0.61703	1.905	0.54753	D	0.999985	B	0.20459	0.045	B	0.23852	0.049	T	0.58509	-0.7624	10	0.39692	T	0.17	-38.117	15.1871	0.73012	0.0:0.9313:0.0:0.0687	.	336	Q96A29	FUCT1_HUMAN	G	323;323;336	ENSP00000412408:A323G;ENSP00000399779:A323G;ENSP00000313318:A336G	ENSP00000313318:A336G	A	+	2	0	SLC35C1	45789374	1.000000	0.71417	0.991000	0.47740	0.886000	0.51366	4.767000	0.62286	2.714000	0.92807	0.563000	0.77884	GCC		0.627	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	NM_018389		3	29	0	0	0	1	0	3	29				
DNAH1	25981	broad.mit.edu	37	3	52433085	52433085	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:52433085G>C	ENST00000420323.2	+	76	12570	c.12309G>C	c.(12307-12309)tgG>tgC	p.W4103C		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4168					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCAGGCCTGGATCCAAGATG	0.542																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(12307-12309)tgG>tgC		dynein, axonemal, heavy chain 1							183.0	192.0	189.0					3																	52433085		2008	4170	6178	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52433085G>C	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.12309G>C	3.37:g.52433085G>C	ENSP00000401514:p.Trp4103Cys						p.W4103C	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	76	12570	+			4168					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.12309G>C	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335218	0.41398	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.11712	2.75	4.24	4.24	0.50183	.	0.000000	0.64402	D	0.000005	T	0.51398	0.1672	H	0.98559	4.265	0.80722	D	1	D;B	0.89917	1.0;0.224	D;B	0.97110	1.0;0.097	T	0.73849	-0.3853	10	0.87932	D	0	.	17.1652	0.86814	0.0:0.0:1.0:0.0	.	4103;4168	C9JXH6;Q9P2D7-2	.;.	C	4103;856	ENSP00000401514:W4103C	ENSP00000273600:W856C	W	+	3	0	DNAH1	52408125	1.000000	0.71417	0.998000	0.56505	0.157000	0.22087	9.597000	0.98273	2.356000	0.79943	0.655000	0.94253	TGG		0.542	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		21	216	0	0	0	1	0	21	216				
SLC25A14	9016	broad.mit.edu	37	X	129480563	129480563	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:129480563G>A	ENST00000218197.5	+	3	442	c.215G>A	c.(214-216)gGc>gAc	p.G72D	SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Missense_Mutation_p.G69D|SLC25A14_ENST00000543953.1_Missense_Mutation_p.G37D|SLC25A14_ENST00000339231.3_Missense_Mutation_p.G69D|SLC25A14_ENST00000545805.1_Missense_Mutation_p.G72D	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	72					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						CAGGTTCAAGGCCAAAGCATT	0.403																																						ENST00000543953.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						c.(109-111)gGc>gAc		solute carrier family 25 (mitochondrial carrier, brain), member 14							132.0	119.0	123.0					X																	129480563		2203	4299	6502	SO:0001583	missense	9016				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	g.chrX:129480563G>A	AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.215G>A	X.37:g.129480563G>A	ENSP00000218197:p.Gly72Asp					SLC25A14_ENST00000545805.1_Missense_Mutation_p.G72D|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000218197.5_Missense_Mutation_p.G72D|SLC25A14_ENST00000361980.5_Missense_Mutation_p.G69D|SLC25A14_ENST00000339231.3_Missense_Mutation_p.G69D	p.G37D			O95258	UCP5_HUMAN			3	159	+			72					D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Missense_Mutation	SNP	ENST00000218197.5	37	c.110G>A	CCDS14623.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780823	0.90195	.	.	ENSG00000102078	ENST00000424447;ENST00000545805;ENST00000543953;ENST00000218197;ENST00000361980;ENST00000339231	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.19	5.19	0.71726	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.85199	0.5642	L	0.52206	1.635	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.86664	0.1906	10	0.87932	D	0	-9.1765	16.4106	0.83712	0.0:0.0:1.0:0.0	.	37;69;69;72	B7Z996;O95258-3;O95258-2;O95258	.;.;.;UCP5_HUMAN	D	72;72;37;72;69;69	ENSP00000402578:G72D;ENSP00000444642:G72D;ENSP00000445225:G37D;ENSP00000218197:G72D;ENSP00000354455:G69D;ENSP00000342797:G69D	ENSP00000218197:G72D	G	+	2	0	SLC25A14	129308244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.633000	0.90999	2.396000	0.81511	0.594000	0.82650	GGC		0.403	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951		50	49	0	0	0	1	0	50	49				
MYH1	4619	broad.mit.edu	37	17	10409371	10409371	+	Missense_Mutation	SNP	G	G	C	rs371872450		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:10409371G>C	ENST00000226207.5	-	18	2108	c.2014C>G	c.(2014-2016)Cac>Gac	p.H672D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	672	Actin-binding. {ECO:0000250}.|Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CGCACAAAGTGGGGGTGAGTG	0.413																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(2014-2016)Cac>Gac		myosin, heavy chain 1, skeletal muscle, adult		G	ASP/HIS	0,4406		0,0,2203	131.0	133.0	133.0		2014	4.9	1.0	17		133	2,8592	2.2+/-6.3	0,2,4295	no	missense	MYH1	NM_005963.3	81	0,2,6498	CC,CG,GG		0.0233,0.0,0.0154	probably-damaging	672/1940	10409371	2,12998	2203	4297	6500	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10409371G>C		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2014C>G	17.37:g.10409371G>C	ENSP00000226207:p.His672Asp					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.H672D	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			18	2108	-			672			Actin-binding (By similarity).|Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.2014C>G	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290627	0.80914	0.0	2.33E-4	ENSG00000109061	ENST00000226207	T	0.75589	-0.95	4.94	4.94	0.65067	Myosin head, motor domain (2);	0.000000	0.44902	U	0.000403	D	0.93223	0.7841	H	0.99870	4.87	0.80722	D	1	D	0.63046	0.992	D	0.78314	0.991	D	0.96215	0.9156	10	0.87932	D	0	.	18.7276	0.91720	0.0:0.0:1.0:0.0	.	672	P12882	MYH1_HUMAN	D	672	ENSP00000226207:H672D	ENSP00000226207:H672D	H	-	1	0	MYH1	10350096	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.372000	0.97165	2.745000	0.94114	0.650000	0.86243	CAC		0.413	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		43	77	0	0	0	1	0	43	77				
CDCP2	200008	broad.mit.edu	37	1	54606862	54606862	+	Silent	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:54606862G>C	ENST00000371330.1	-	3	1519	c.672C>G	c.(670-672)ccC>ccG	p.P224P	CDCP2_ENST00000530059.1_5'Flank|RP11-446E24.4_ENST00000525949.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	224	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						ACACGAGGGTGGGGGGCCTGG	0.622																																						ENST00000371330.1																			0				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						c.(670-672)ccC>ccG		CUB domain containing protein 2							40.0	41.0	41.0					1																	54606862		2203	4300	6503	SO:0001819	synonymous_variant	200008					extracellular region		g.chr1:54606862G>C		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.672C>G	1.37:g.54606862G>C							p.P224P	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN			3	1519	-			224			CUB 2.		Q6ZWJ3	Silent	SNP	ENST00000371330.1	37	c.672C>G	CCDS588.2																																																																																				0.622	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		4	53	0	0	0	1	0	4	53				
OR56B4	196335	broad.mit.edu	37	11	6129689	6129689	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:6129689C>G	ENST00000316529.3	+	1	776	c.681C>G	c.(679-681)atC>atG	p.I227M	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTGTAATCCTTCACTCTG	0.468																																						ENST00000316529.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21						c.(679-681)atC>atG		olfactory receptor, family 56, subfamily B, member 4							193.0	183.0	187.0					11																	6129689		2201	4296	6497	SO:0001583	missense	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129689C>G	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.681C>G	11.37:g.6129689C>G	ENSP00000321196:p.Ile227Met					RP11-290F24.3_ENST00000529961.1_RNA	p.I227M	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	776	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	227					Q6IFD7	Missense_Mutation	SNP	ENST00000316529.3	37	c.681C>G	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	C	9.224	1.034068	0.19590	.	.	ENSG00000180919	ENST00000316529	T	0.00411	7.53	4.06	-7.67	0.01272	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37437	U	0.002097	T	0.01254	0.0041	H	0.97390	3.995	0.09310	N	0.999997	D	0.76494	0.999	D	0.79784	0.993	T	0.01316	-1.1387	10	0.87932	D	0	.	6.8883	0.24214	0.111:0.3601:0.0:0.5289	.	227	Q8NH76	O56B4_HUMAN	M	227	ENSP00000321196:I227M	ENSP00000321196:I227M	I	+	3	3	OR56B4	6086265	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.494000	0.02296	-1.905000	0.01090	-0.347000	0.07816	ATC		0.468	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		15	83	0	0	0	1	0	15	83				
TMPRSS2	7113	broad.mit.edu	37	21	42866331	42866331	+	Missense_Mutation	SNP	C	C	T	rs574582815		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:42866331C>T	ENST00000332149.5	-	3	324	c.190G>A	c.(190-192)Gtc>Atc	p.V64I	TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.V64I|TMPRSS2_ENST00000398585.3_Missense_Mutation_p.V101I	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	64					positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GTGCAGACGACGGGGTTGGAA	0.602			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	ENST00000398585.3				Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	"""ERG, ETV1, ETV4, ETV5"""		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(301-303)Gtc>Atc		transmembrane protease, serine 2							62.0	59.0	60.0					21																	42866331		2203	4300	6503	SO:0001583	missense	7113				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42866331C>T	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.190G>A	21.37:g.42866331C>T	ENSP00000330330:p.Val64Ile					TMPRSS2_ENST00000458356.1_Missense_Mutation_p.V64I|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.V64I|TMPRSS2_ENST00000497881.1_Intron	p.V101I	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN			3	361	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	64					A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	ENST00000332149.5	37	c.301G>A	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624262	0.28889	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499;ENST00000424093;ENST00000455813	D;D;D;D;T	0.88046	-2.3;-2.33;-2.3;-2.32;1.98	4.92	1.72	0.24424	.	3.401380	0.01190	N	0.007308	T	0.80082	0.4558	L	0.39898	1.24	0.09310	N	1	B;B	0.32939	0.391;0.271	B;B	0.27887	0.084;0.024	T	0.64558	-0.6379	10	0.25106	T	0.35	.	3.7316	0.08495	0.1873:0.5918:0.0:0.2208	.	101;64	F8WES1;O15393	.;TMPS2_HUMAN	I	64;101;64;64;64;64	ENSP00000330330:V64I;ENSP00000381588:V101I;ENSP00000391216:V64I;ENSP00000389006:V64I;ENSP00000397846:V64I	ENSP00000330330:V64I	V	-	1	0	TMPRSS2	41788201	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.040000	0.12104	0.519000	0.28406	-0.355000	0.07637	GTC		0.602	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			24	37	0	0	0	1	0	24	37				
WDR73	84942	broad.mit.edu	37	15	85188753	85188753	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:85188753G>A	ENST00000434634.2	-	7	892	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	278										cervix(1)|large_intestine(1)|lung(1)	3						ACTCGCAGCAGCTCTGGGTCA	0.562																																						ENST00000434634.2																			0				cervix(1)|large_intestine(1)|lung(1)	3						c.(832-834)Ctg>Ttg		WD repeat domain 73							31.0	34.0	33.0					15																	85188753		1984	4155	6139	SO:0001819	synonymous_variant	84942							g.chr15:85188753G>A	AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"""WD repeat domain containing"""	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.832C>T	15.37:g.85188753G>A						WDR73_ENST00000398528.3_5'UTR	p.L278L	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN			7	892	-			278					Q96JZ1|Q9P0B7	Silent	SNP	ENST00000434634.2	37	c.832C>T	CCDS45339.1																																																																																				0.562	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1	NM_032856		6	11	0	0	0	1	0	6	11				
PRODH	5625	broad.mit.edu	37	22	18909861	18909861	+	Silent	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:18909861C>T	ENST00000357068.6	-	7	1171	c.906G>A	c.(904-906)acG>acA	p.T302T	PRODH_ENST00000420436.1_Silent_p.T194T|PRODH_ENST00000334029.2_Silent_p.T194T	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	302					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GGGTCTCTGCCGTGAACCAGT	0.577																																						ENST00000357068.6																			0				breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9						c.(904-906)acG>acA		proline dehydrogenase (oxidase) 1	L-Proline(DB00172)						59.0	51.0	54.0					22																	18909861		2203	4300	6503	SO:0001819	synonymous_variant	5625				glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity	g.chr22:18909861C>T	AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"""proline dehydrogenase (proline oxidase )"""			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.906G>A	22.37:g.18909861C>T						PRODH_ENST00000334029.2_Silent_p.T194T|PRODH_ENST00000420436.1_Silent_p.T194T	p.T302T	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN			7	1171	-			302					A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Silent	SNP	ENST00000357068.6	37	c.906G>A	CCDS13754.1	.	.	.	.	.	.	.	.	.	.	.	0.049	-1.255700	0.01457	.	.	ENSG00000100033	ENST00000438924	.	.	.	4.63	-9.25	0.00666	.	.	.	.	.	T	0.33731	0.0873	.	.	.	0.34790	D	0.735656	.	.	.	.	.	.	T	0.33929	-0.9849	4	.	.	.	-10.2395	3.3897	0.07285	0.2049:0.1013:0.1406:0.5532	.	.	.	.	S	163	.	.	G	-	1	0	PRODH	17289861	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-6.016000	0.00085	-3.582000	0.00137	-0.840000	0.03056	GGC		0.577	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2	NM_016335		9	12	0	0	0	1	0	9	12				
ZNF74	7625	broad.mit.edu	37	22	20761029	20761029	+	Missense_Mutation	SNP	C	C	G	rs559905558		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:20761029C>G	ENST00000400451.2	+	5	2220	c.1706C>G	c.(1705-1707)tCg>tGg	p.S569W	ZNF74_ENST00000405993.1_Missense_Mutation_p.S537W|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.S569W|ZNF74_ENST00000403682.3_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	569				S -> P (in Ref. 5; BAH13068). {ECO:0000305}.	multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AACTGGAGCTCGCACCTCACT	0.537																																						ENST00000400451.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1705-1707)tCg>tGg		zinc finger protein 74							55.0	62.0	60.0					22																	20761029		2142	4285	6427	SO:0001583	missense	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20761029C>G	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.1706C>G	22.37:g.20761029C>G	ENSP00000383301:p.Ser569Trp					ZNF74_ENST00000356671.5_Missense_Mutation_p.S569W|ZNF74_ENST00000405993.1_Missense_Mutation_p.S537W|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR	p.S569W	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		5	2220	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	569	S -> P (in Ref. 5; BAH13068).				B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	c.1706C>G	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476416	0.44044	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.58940	0.3;0.3;0.3	4.27	2.02	0.26589	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	2.291920	0.02118	N	0.055396	T	0.63295	0.2499	M	0.73598	2.24	0.09310	N	1	B	0.25609	0.13	B	0.21546	0.035	T	0.55673	-0.8104	10	0.72032	D	0.01	-2.2185	12.6195	0.56595	0.0:0.5929:0.4071:0.0	.	569	Q16587	ZNF74_HUMAN	W	569;569;537	ENSP00000383301:S569W;ENSP00000349098:S569W;ENSP00000385855:S537W	ENSP00000349098:S569W	S	+	2	0	ZNF74	19091029	0.000000	0.05858	0.002000	0.10522	0.054000	0.15201	-0.192000	0.09587	0.647000	0.30713	0.655000	0.94253	TCG		0.537	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		4	94	0	0	0	1	0	4	94				
XIST	7503	broad.mit.edu	37	X	73061343	73061343	+	lincRNA	SNP	A	A	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:73061343A>T	ENST00000429829.1	-	0	11245					NR_001564.2				X inactive specific transcript (non-protein coding)																		TTCAGTTATTACAAAGAACTG	0.433																																						ENST00000429829.1																			0																				107.0	110.0	109.0					X																	73061343		876	1991	2867			7503							g.chrX:73061343A>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73061343A>T								NR_001564.2						0	11245	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.433	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		25	51	0	0	0	1	0	25	51				
ZNF331	55422	broad.mit.edu	37	19	54080353	54080353	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:54080353T>A	ENST00000253144.9	+	7	1872	c.539T>A	c.(538-540)aTt>aAt	p.I180N	ZNF331_ENST00000511593.2_Missense_Mutation_p.I180N|ZNF331_ENST00000512387.1_Missense_Mutation_p.I180N|ZNF331_ENST00000411977.2_Missense_Mutation_p.I180N|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511154.1_Missense_Mutation_p.I180N|ZNF331_ENST00000513999.1_Missense_Mutation_p.I180N|ZNF331_ENST00000449416.1_Missense_Mutation_p.I180N	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CATCAAAAAATTCATACTGGG	0.413			T	?	follicular thyroid adenoma																																	ENST00000253144.9				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(538-540)aTt>aAt		zinc finger protein 331							79.0	87.0	84.0					19																	54080353		2203	4300	6503	SO:0001583	missense	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54080353T>A	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.539T>A	19.37:g.54080353T>A	ENSP00000253144:p.Ile180Asn					ZNF331_ENST00000449416.1_Missense_Mutation_p.I180N|ZNF331_ENST00000411977.2_Missense_Mutation_p.I180N|ZNF331_ENST00000513999.1_Missense_Mutation_p.I180N|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_Missense_Mutation_p.I180N|ZNF331_ENST00000511154.1_Missense_Mutation_p.I180N|ZNF331_ENST00000511593.2_Missense_Mutation_p.I180N	p.I180N	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	1872	+			180					Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.539T>A	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.952915	0.53293	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02;3.02;3.02	3.68	3.68	0.42216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35466	N	0.003184	T	0.15998	0.0385	L	0.49256	1.55	0.23487	N	0.997579	D	0.59357	0.985	P	0.61003	0.882	T	0.03043	-1.1079	10	0.87932	D	0	.	5.7214	0.17988	0.0:0.1244:0.0:0.8756	.	180	Q9NQX6	ZN331_HUMAN	N	180	ENSP00000253144:I180N;ENSP00000427439:I180N;ENSP00000393817:I180N;ENSP00000393336:I180N;ENSP00000421014:I180N;ENSP00000423156:I180N;ENSP00000421728:I180N	ENSP00000253144:I180N	I	+	2	0	ZNF331	58772165	0.003000	0.15002	0.855000	0.33649	0.861000	0.49209	1.297000	0.33400	1.665000	0.50811	0.460000	0.39030	ATT		0.413	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		58	72	0	0	0	1	0	58	72				
RBMXL2	27288	broad.mit.edu	37	11	7111017	7111017	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:7111017C>A	ENST00000306904.5	+	1	853	c.666C>A	c.(664-666)agC>agA	p.S222R		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	222	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTACTCGAGCCGAGACTACC	0.706																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(664-666)agC>agA		RNA binding motif protein, X-linked-like 2							10.0	12.0	12.0					11																	7111017		2164	4240	6404	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111017C>A	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.666C>A	11.37:g.7111017C>A	ENSP00000304139:p.Ser222Arg						p.S222R	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	853	+			222			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.666C>A	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486687	0.44249	.	.	ENSG00000170748	ENST00000306904	T	0.78364	-1.17	2.6	2.6	0.31112	.	0.000000	0.85682	U	0.000000	T	0.80401	0.4616	M	0.68593	2.085	0.35033	D	0.758932	D	0.61080	0.989	P	0.53185	0.72	D	0.85741	0.1337	10	0.51188	T	0.08	.	11.3476	0.49569	0.0:1.0:0.0:0.0	.	222	O75526	HNRGT_HUMAN	R	222	ENSP00000304139:S222R	ENSP00000304139:S222R	S	+	3	2	RBMXL2	7067593	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	1.476000	0.35420	1.744000	0.51775	0.467000	0.42956	AGC		0.706	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		4	11	1	0	0.00024832	1	0.000259164	4	11				
PHF20	51230	broad.mit.edu	37	20	34526929	34526929	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr20:34526929C>G	ENST00000374012.3	+	16	2740	c.2611C>G	c.(2611-2613)Ctc>Gtc	p.L871V	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	871					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GGTCAACCCCCTCCATGAGAA	0.632																																						ENST00000374012.3																			0				breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2611-2613)Ctc>Gtc		PHD finger protein 20							61.0	53.0	56.0					20																	34526929		2203	4300	6503	SO:0001583	missense	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34526929C>G	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2611C>G	20.37:g.34526929C>G	ENSP00000363124:p.Leu871Val					PHF20_ENST00000439301.1_3'UTR	p.L871V			Q9BVI0	PHF20_HUMAN			16	2740	+	Breast(12;0.00631)|all_lung(11;0.0145)		871					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	c.2611C>G	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198323	0.38806	.	.	ENSG00000025293	ENST00000374012	T	0.32023	1.47	5.72	4.71	0.59529	.	0.198420	0.51477	D	0.000091	T	0.22003	0.0530	N	0.20986	0.625	0.80722	D	1	B	0.20368	0.044	B	0.12837	0.008	T	0.03268	-1.1054	10	0.48119	T	0.1	.	13.5056	0.61481	0.2673:0.7327:0.0:0.0	.	871	Q9BVI0	PHF20_HUMAN	V	871	ENSP00000363124:L871V	ENSP00000363124:L871V	L	+	1	0	PHF20	33990343	0.898000	0.30612	0.934000	0.37439	0.919000	0.55068	1.570000	0.36439	2.715000	0.92844	0.549000	0.68633	CTC		0.632	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		4	72	0	0	0	1	0	4	72				
GTSE1	51512	broad.mit.edu	37	22	46712087	46712087	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:46712087G>C	ENST00000454366.1	+	7	1422	c.1210G>C	c.(1210-1212)Gag>Cag	p.E404Q		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	385					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CGATGTTTCTGAGCTGGCAGC	0.672																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(1210-1212)Gag>Cag		G-2 and S-phase expressed 1							31.0	35.0	34.0					22																	46712087		2202	4298	6500	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46712087G>C	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1210G>C	22.37:g.46712087G>C	ENSP00000415430:p.Glu404Gln						p.E404Q	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	7	1422	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	385					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.1210G>C	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	4.512	0.094922	0.08681	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.06933	3.24	4.39	0.907	0.19321	.	2.098250	0.01354	N	0.011981	T	0.04363	0.0120	N	0.08118	0	0.09310	N	1	B;B	0.15930	0.001;0.015	B;B	0.13407	0.004;0.009	T	0.34976	-0.9807	10	0.12766	T	0.61	-4.0688	3.6584	0.08229	0.2871:0.2914:0.4214:0.0	.	385;364	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	Q	404;364	ENSP00000415430:E404Q	ENSP00000354634:E364Q	E	+	1	0	GTSE1	45090751	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.425000	0.21346	0.507000	0.28148	0.650000	0.86243	GAG		0.672	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		6	62	0	0	0	1	0	6	62				
HPSE	10855	broad.mit.edu	37	4	84255758	84255758	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:84255758T>A	ENST00000405413.2	-	2	314	c.178A>T	c.(178-180)Acc>Tcc	p.T60S	HPSE_ENST00000513463.1_Missense_Mutation_p.T60S|HPSE_ENST00000512196.1_Missense_Mutation_p.T60S|HPSE_ENST00000311412.5_Missense_Mutation_p.T60S	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	60					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	GCGTCAATGGTGACGGACAGG	0.657																																						ENST00000405413.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20						c.(178-180)Acc>Tcc		heparanase	Heparin(DB01109)						40.0	40.0	40.0					4																	84255758		2197	4298	6495	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84255758T>A	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.178A>T	4.37:g.84255758T>A	ENSP00000384262:p.Thr60Ser					HPSE_ENST00000512196.1_Missense_Mutation_p.T60S|HPSE_ENST00000513463.1_Missense_Mutation_p.T60S|HPSE_ENST00000311412.5_Missense_Mutation_p.T60S	p.T60S	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	2	314	-		Hepatocellular(203;0.114)	60					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.178A>T	CCDS3602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.97|18.97	3.735146|3.735146	0.69189|0.69189	.|.	.|.	ENSG00000173083|ENSG00000173083	ENST00000454730|ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	.|T;T;T;T	.|0.56611	.|0.66;0.66;0.7;0.45	4.06|4.06	4.06|4.06	0.47325|0.47325	.|Glycoside hydrolase, superfamily (1);	.|0.055855	.|0.64402	.|D	.|0.000001	.|T	.|0.68632	.|0.3022	M|M	0.77103|0.77103	2.36|2.36	0.45883|0.45883	D|D	0.998737|0.998737	.|D;D;D	.|0.69078	.|0.993;0.997;0.997	.|D;D;D	.|0.77004	.|0.968;0.989;0.931	.|T	.|0.67719	.|-0.5598	.|10	.|0.30078	.|T	.|0.28	.|-10.7593	10.6284|10.6284	0.45521|0.45521	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|60;60;60	.|E9PCA9;E9PGR1;Q9Y251	.|.;.;HPSE_HUMAN	.|S	-1|60	.|ENSP00000308107:T60S;ENSP00000384262:T60S;ENSP00000423265:T60S;ENSP00000421365:T60S	.|ENSP00000308107:T60S	.|T	-|-	.|1	.|0	HPSE|HPSE	84474782|84474782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.533000|0.533000	0.34776|0.34776	3.588000|3.588000	0.53964|0.53964	1.704000|1.704000	0.51252|0.51252	0.260000|0.260000	0.18958|0.18958	.|ACC		0.657	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		4	7	0	0	0	1	0	4	7				
NXPE1	120400	broad.mit.edu	37	11	114401276	114401276	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:114401276C>G	ENST00000424269.1	-	2	453	c.454G>C	c.(454-456)Gct>Cct	p.A152P	NXPE1_ENST00000251921.2_Missense_Mutation_p.A10P|NXPE1_ENST00000536271.1_5'Flank|NXPE1_ENST00000536312.1_Missense_Mutation_p.A152P			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	152						extracellular region (GO:0005576)											TTTCCTGAAGCACCTGCCGTC	0.577																																						ENST00000536312.1																			0											c.(454-456)Gct>Cct		neurexophilin and PC-esterase domain family, member 1							77.0	81.0	79.0					11																	114401276		2201	4296	6497	SO:0001583	missense	120400							g.chr11:114401276C>G	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.454G>C	11.37:g.114401276C>G	ENSP00000411690:p.Ala152Pro					NXPE1_ENST00000251921.2_Missense_Mutation_p.A10P|NXPE1_ENST00000424269.1_Missense_Mutation_p.A152P	p.A152P							6	1346	-								B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.454G>C		.	.	.	.	.	.	.	.	.	.	C	11.36	1.616156	0.28801	.	.	ENSG00000095110	ENST00000251921;ENST00000424269;ENST00000536312	T;T;T	0.51574	2.37;2.56;0.7	4.52	3.57	0.40892	.	0.000000	0.56097	D	0.000036	T	0.71048	0.3294	M	0.90977	3.165	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.63629	-0.6594	10	0.44086	T	0.13	.	10.303	0.43663	0.0:0.8937:0.0:0.1063	.	152	F5H6W7	.	P	10;152;152	ENSP00000251921:A10P;ENSP00000411690:A152P;ENSP00000442984:A152P	ENSP00000251921:A10P	A	-	1	0	FAM55A	113906486	0.928000	0.31464	0.003000	0.11579	0.013000	0.08279	2.600000	0.46240	1.131000	0.42111	0.655000	0.94253	GCT		0.577	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		15	48	0	0	0	1	0	15	48				
USP54	159195	broad.mit.edu	37	10	75289361	75289361	+	Intron	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:75289361G>C	ENST00000339859.4	-	14	2161				USP54_ENST00000408019.1_Intron|USP54_ENST00000428547.1_Intron|RNU6-883P_ENST00000384597.1_RNA|USP54_ENST00000394811.2_Intron|USP54_ENST00000319786.7_Missense_Mutation_p.L713V|USP54_ENST00000497106.1_Intron			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54						ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ACTTGTCTCAGCCATGCCTGA	0.478											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(195;880 2046 8854 25025 38456)	ENST00000319786.7																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(2137-2139)Ctg>Gtg		ubiquitin specific peptidase 54																																				SO:0001627	intron_variant	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75289361G>C	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2060+76C>G	10.37:g.75289361G>C			OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1159	USP54_ENST00000339859.4_Intron|USP54_ENST00000428547.1_Intron|USP54_ENST00000408019.1_Intron|USP54_ENST00000497106.1_Intron|USP54_ENST00000394811.2_Intron	p.L713V			Q70EL1	UBP54_HUMAN			15	2980	-	Prostate(51;0.0112)		0					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.2137C>G	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	G	8.127	0.782159	0.16189	.	.	ENSG00000166348	ENST00000319786	.	.	.	4.22	-2.51	0.06365	.	.	.	.	.	T	0.23532	0.0569	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21109	-1.0255	7	0.49607	T	0.09	.	0.8201	0.01109	0.2333:0.2215:0.331:0.2142	.	713	B7Z7X1	.	V	713	.	ENSP00000326547:L713V	L	-	1	2	USP54	74959367	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.140000	0.10342	-0.804000	0.04410	-1.094000	0.02160	CTG		0.478	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		29	36	0	0	0	1	0	29	36				
LRP4	4038	broad.mit.edu	37	11	46895103	46895103	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:46895103C>G	ENST00000378623.1	-	29	4513	c.4271G>C	c.(4270-4272)gGg>gCg	p.G1424A	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1424					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGCCCTCGCCCGATCACTGT	0.577																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(4270-4272)gGg>gCg		low density lipoprotein receptor-related protein 4							81.0	72.0	75.0					11																	46895103		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46895103C>G	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4271G>C	11.37:g.46895103C>G	ENSP00000367888:p.Gly1424Ala					LRP4-AS1_ENST00000502049.2_RNA	p.G1424A	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	29	4513	-			1424					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.4271G>C	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525140	0.44969	.	.	ENSG00000134569	ENST00000378623	D	0.95588	-3.75	5.91	4.99	0.66335	Six-bladed beta-propeller, TolB-like (1);	0.048798	0.85682	D	0.000000	D	0.90428	0.7003	N	0.25647	0.755	0.58432	D	0.999999	B	0.15141	0.012	B	0.19666	0.026	D	0.85294	0.1069	10	0.05525	T	0.97	.	16.4222	0.83766	0.1325:0.8675:0.0:0.0	.	1424	O75096	LRP4_HUMAN	A	1424	ENSP00000367888:G1424A	ENSP00000367888:G1424A	G	-	2	0	LRP4	46851679	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	4.946000	0.63576	1.475000	0.48197	0.655000	0.94253	GGG		0.577	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		4	93	0	0	0	1	0	4	93				
MAGIX	79917	broad.mit.edu	37	X	49022442	49022442	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:49022442C>G	ENST00000412696.2	+	6	709	c.709C>G	c.(709-711)Cct>Gct	p.P237A	MAGIX_ENST00000425661.2_Missense_Mutation_p.P161A|MAGIX_ENST00000376339.1_Missense_Mutation_p.P173A|MAGIX_ENST00000376338.3_Missense_Mutation_p.P178A|MAGIX_ENST00000498742.1_3'UTR	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	237																	CAGCCCAGATCCTGGAGGGCC	0.612																																						ENST00000376338.3																			0											c.(532-534)Cct>Gct		MAGI family member, X-linked							46.0	53.0	50.0					X																	49022442		2133	4217	6350	SO:0001583	missense	79917							g.chrX:49022442C>G	AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.709C>G	X.37:g.49022442C>G	ENSP00000387928:p.Pro237Ala					MAGIX_ENST00000425661.2_Missense_Mutation_p.P161A|MAGIX_ENST00000412696.2_Missense_Mutation_p.P237A|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000376339.1_Missense_Mutation_p.P173A	p.P178A			Q9H6Y5	MAGIX_HUMAN			4	611	+			237			PDZ.		A6XND4|A8MSX9|B7WP26|Q14C81	Missense_Mutation	SNP	ENST00000412696.2	37	c.532C>G	CCDS48106.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	14.46|14.46|14.46	2.541649|2.541649|2.541649	0.45280|0.45280|0.45280	.|.|.	.|.|.	ENSG00000017621|ENSG00000017621|ENSG00000017621	ENST00000415364|ENST00000376339;ENST00000425661;ENST00000412696;ENST00000376338;ENST00000425285;ENST00000454342|ENST00000458388	.|T;T;T;T;T;T|.	.|0.35048|.	.|1.74;1.69;1.52;1.48;1.45;1.33|.	3.86|3.86|3.86	0.945|0.945|0.945	0.19543|0.19543|0.19543	.|.|.	.|0.000000|.	.|0.34986|.	.|N|.	.|0.003534|.	T|T|T	0.23965|0.23965|0.23965	0.0580|0.0580|0.0580	L|L|L	0.32530|0.32530|0.32530	0.975|0.975|0.975	0.27355|0.27355|0.27355	N|N|N	0.956137|0.956137|0.956137	.|D;D;D;D;D|.	.|0.89917|.	.|1.0;0.999;1.0;1.0;0.999|.	.|D;D;D;D;D|.	.|0.85130|.	.|0.997;0.994;0.997;0.997;0.994|.	T|T|T	0.22591|0.22591|0.22591	-1.0212|-1.0212|-1.0212	5|10|5	.|0.56958|.	.|D|.	.|0.05|.	-8.5747|-8.5747|-8.5747	2.4425|2.4425|2.4425	0.04498|0.04498|0.04498	0.2402:0.4864:0.0:0.2734|0.2402:0.4864:0.0:0.2734|0.2402:0.4864:0.0:0.2734	.|.|.	.|161;237;173;178;104|.	.|F8WCY7;Q9H6Y5;Q9H6Y5-3;Q9H6Y5-2;C9J123|.	.|.;MAGIX_HUMAN;.;.;.|.	M|A|C	200|173;161;237;178;178;104|161	.|ENSP00000365517:P173A;ENSP00000403515:P161A;ENSP00000387928:P237A;ENSP00000365516:P178A;ENSP00000411713:P178A;ENSP00000400147:P104A|.	.|ENSP00000365516:P178A|.	I|P|S	+|+|+	3|1|2	3|0|0	MAGIX|MAGIX|MAGIX	48909386|48909386|48909386	0.480000|0.480000|0.480000	0.25933|0.25933|0.25933	0.856000|0.856000|0.856000	0.33681|0.33681|0.33681	0.055000|0.055000|0.055000	0.15305|0.15305|0.15305	0.478000|0.478000|0.478000	0.22212|0.22212|0.22212	0.222000|0.222000|0.222000	0.20900|0.20900|0.20900	-0.306000|-0.306000|-0.306000	0.09157|0.09157|0.09157	ATC|CCT|TCC		0.612	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378832.1	NM_024859		5	85	0	0	0	1	0	5	85				
ATAD5	79915	broad.mit.edu	37	17	29161400	29161400	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:29161400C>G	ENST00000321990.4	+	2	679	c.301C>G	c.(301-303)Cct>Gct	p.P101A	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	101					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTGTACGACACCTTTGGAAAT	0.343																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(301-303)Cct>Gct		ATPase family, AAA domain containing 5							89.0	94.0	93.0					17																	29161400		2203	4299	6502	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29161400C>G		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.301C>G	17.37:g.29161400C>G	ENSP00000313171:p.Pro101Ala					CTD-2349P21.11_ENST00000580873.1_RNA	p.P101A	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			2	679	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	101					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.301C>G	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	8.302	0.820105	0.16678	.	.	ENSG00000176208	ENST00000321990	T	0.16457	2.34	5.65	3.67	0.42095	.	1.238590	0.05129	N	0.492214	T	0.17195	0.0413	L	0.47716	1.5	0.25907	N	0.983281	B	0.21071	0.051	B	0.17433	0.018	T	0.34104	-0.9842	10	0.22109	T	0.4	.	7.3579	0.26729	0.0:0.6427:0.0:0.3573	.	101	Q96QE3	ATAD5_HUMAN	A	101	ENSP00000313171:P101A	ENSP00000313171:P101A	P	+	1	0	ATAD5	26185526	0.000000	0.05858	0.553000	0.28255	0.719000	0.41307	0.123000	0.15708	0.861000	0.35504	0.655000	0.94253	CCT		0.343	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		8	128	0	0	0	1	0	8	128				
GAK	2580	broad.mit.edu	37	4	871403	871403	+	Splice_Site	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:871403C>T	ENST00000314167.4	-	16	1966	c.1856G>A	c.(1855-1857)cGg>cAg	p.R619Q	GAK_ENST00000511163.1_Splice_Site_p.R540Q	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	619	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R619P(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTGCACTCACCGCATCTTGTC	0.652																																						ENST00000314167.4																			1	Substitution - Missense(1)	p.R619P(1)	lung(1)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.e16+1		cyclin G associated kinase							46.0	42.0	43.0					4																	871403		2203	4300	6503	SO:0001630	splice_region_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:871403C>T	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1856+1G>A	4.37:g.871403C>T						GAK_ENST00000511163.1_Splice_Site_p.R540_splice	p.R619_splice	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	16	1966	-			619			C2 tensin-type.		Q5U4P5|Q9BVY6	Splice_Site	SNP	ENST00000314167.4	37	c.1856_splice	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257488	0.59321	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.85411	-1.98;-1.98	5.71	0.156	0.14910	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.275248	0.38720	N	0.001590	T	0.75250	0.3824	L	0.48642	1.525	0.50313	D	0.999863	P;P;B;B	0.41947	0.766;0.762;0.254;0.377	B;B;B;B	0.35859	0.212;0.169;0.212;0.212	T	0.66626	-0.5876	9	.	.	.	-25.9473	9.5891	0.39534	0.0:0.3198:0.0:0.6802	.	540;540;619;515	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	Q	619;540	ENSP00000314499:R619Q;ENSP00000421361:R540Q	.	R	-	2	0	GAK	861403	0.999000	0.42202	0.957000	0.39632	0.779000	0.44077	0.519000	0.22862	-0.196000	0.10366	-0.136000	0.14681	CGG		0.652	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255	Missense_Mutation	3	39	0	0	0	1	0	3	39				
USP13	8975	broad.mit.edu	37	3	179399665	179399665	+	Splice_Site	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr3:179399665G>C	ENST00000263966.3	+	2	639		c.e2-1		USP13_ENST00000496897.1_Splice_Site|USP13_ENST00000482333.1_Splice_Site	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)						autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CTTTCTTCTAGAATTCTGAAG	0.428																																						ENST00000263966.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46						c.e2-1		ubiquitin specific peptidase 13 (isopeptidase T-3)							182.0	182.0	182.0					3																	179399665		2203	4300	6503	SO:0001630	splice_region_variant	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179399665G>C	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.169-1G>C	3.37:g.179399665G>C						USP13_ENST00000482333.1_Splice_Site|USP13_ENST00000496897.1_Splice_Site		NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		2	639	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)							A8K2S3|B4DYF3|D3DNS2|Q96B25	Splice_Site	SNP	ENST00000263966.3	37		CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727533	0.69074	.	.	ENSG00000058056	ENST00000263966	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.353	0.94398	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP13	180882359	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	9.260000	0.95568	2.677000	0.91161	0.557000	0.71058	.		0.428	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1		Intron	11	143	0	0	0	1	0	11	143				
IL17RA	23765	broad.mit.edu	37	22	17589625	17589625	+	Missense_Mutation	SNP	G	G	C	rs561912993		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:17589625G>C	ENST00000319363.6	+	13	1649	c.1516G>C	c.(1516-1518)Gag>Cag	p.E506Q		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	506	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)	p.E506*(1)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTACTTCAGCGAGGTCAGCTG	0.627																																						ENST00000319363.6																			1	Substitution - Nonsense(1)	p.E506*(1)	lung(1)	endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(1516-1518)Gag>Cag		interleukin 17 receptor A							30.0	30.0	30.0					22																	17589625		2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17589625G>C	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1516G>C	22.37:g.17589625G>C	ENSP00000320936:p.Glu506Gln						p.E506Q	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	13	1649	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	506			SEFIR.		O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.1516G>C	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.826944	0.50739	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.30182	1.54	5.2	5.2	0.72013	SEFIR (1);	0.314770	0.33650	N	0.004693	T	0.28896	0.0717	N	0.19112	0.55	0.36559	D	0.872317	P;P	0.49307	0.922;0.902	P;P	0.47346	0.506;0.544	T	0.14896	-1.0456	10	0.30854	T	0.27	-12.7135	18.732	0.91738	0.0:0.0:1.0:0.0	.	454;506	D3YTB4;Q96F46	.;I17RA_HUMAN	Q	454;506	ENSP00000320936:E506Q	ENSP00000320936:E506Q	E	+	1	0	IL17RA	15969625	1.000000	0.71417	0.167000	0.22817	0.009000	0.06853	7.897000	0.87356	2.425000	0.82216	0.462000	0.41574	GAG		0.627	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		5	27	0	0	0	1	0	5	27				
SOX1	6656	broad.mit.edu	37	13	112722289	112722289	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:112722289G>T	ENST00000330949.1	+	1	377	c.317G>T	c.(316-318)cGg>cTg	p.R106L		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	106					chromatin organization (GO:0006325)|forebrain neuron development (GO:0021884)|lens morphogenesis in camera-type eye (GO:0002089)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		GAGGCCAAGCGGCTGCGCGCG	0.637																																						ENST00000330949.1																			0				lung(4)	4						c.(316-318)cGg>cTg		SRY (sex determining region Y)-box 1							39.0	43.0	42.0					13																	112722289		2203	4300	6503	SO:0001583	missense	6656				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:112722289G>T		CCDS9523.1	13q34	2008-07-18			ENSG00000182968	ENSG00000182968		"""SRY (sex determining region Y)-boxes"""	11189	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 1"""	602148				9337405	Standard	NM_005986		Approved		uc001vsb.1	O00570	OTTHUMG00000017362	ENST00000330949.1:c.317G>T	13.37:g.112722289G>T	ENSP00000330218:p.Arg106Leu						p.R106L	NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(48;0.132)	1	377	+	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)	106					Q5W0Q1	Missense_Mutation	SNP	ENST00000330949.1	37	c.317G>T	CCDS9523.1	.	.	.	.	.	.	.	.	.	.	g	24.8	4.571866	0.86542	.	.	ENSG00000182968	ENST00000330949	D	0.98075	-4.7	3.47	3.47	0.39725	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000003	D	0.98264	0.9425	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.98718	1.0707	10	0.87932	D	0	.	12.5013	0.55957	0.0:0.0:1.0:0.0	.	106	O00570	SOX1_HUMAN	L	106	ENSP00000330218:R106L	ENSP00000330218:R106L	R	+	2	0	SOX1	111770290	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.137000	0.89612	1.791000	0.52520	0.450000	0.29827	CGG		0.637	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045817.3	NM_005986		13	71	1	0	4.93089e-13	1	5.65672e-13	13	71				
FBXO9	26268	broad.mit.edu	37	6	52960428	52960428	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:52960428A>G	ENST00000244426.6	+	11	1373	c.1201A>G	c.(1201-1203)Atc>Gtc	p.I401V	FBXO9_ENST00000323557.7_Missense_Mutation_p.I391V|FBXO9_ENST00000370939.3_Missense_Mutation_p.I357V	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	401					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					CAACAAACTCATCTGGATACA	0.378																																						ENST00000244426.6																			0				kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9						c.(1201-1203)Atc>Gtc		F-box protein 9							125.0	118.0	120.0					6																	52960428		1873	4109	5982	SO:0001583	missense	26268					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr6:52960428A>G	AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"""F-boxes /  ""other"""""	13588	protein-coding gene	gene with protein product		609091	"""F-box only protein 9"""			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.1201A>G	6.37:g.52960428A>G	ENSP00000244426:p.Ile401Val					FBXO9_ENST00000370939.3_Missense_Mutation_p.I357V|FBXO9_ENST00000323557.7_Missense_Mutation_p.I391V	p.I401V	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN			11	1373	+	Lung NSC(77;0.103)		401					A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	ENST00000244426.6	37	c.1201A>G	CCDS55023.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.006|4.006	-0.001542|-0.001542	0.07819|0.07819	.|.	.|.	ENSG00000112146|ENSG00000112146	ENST00000484436|ENST00000370939;ENST00000323557;ENST00000244426	.|T;T;T	.|0.75367	.|-0.93;-0.93;-0.93	5.13|5.13	1.11|1.11	0.20524|0.20524	.|F-box domain, Skp2-like (1);	.|0.108216	.|0.64402	.|N	.|0.000006	T|T	0.16514|0.16514	0.0397|0.0397	N|N	0.00387|0.00387	-1.565|-1.565	0.34038|0.34038	D|D	0.654691|0.654691	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.001;0.001;0.0	T|T	0.03344|0.03344	-1.1046|-1.1046	5|10	.|0.28530	.|T	.|0.3	-13.0525|-13.0525	6.6731|6.6731	0.23080|0.23080	0.408:0.0:0.592:0.0|0.408:0.0:0.592:0.0	.|.	.|391;508;401	.|Q9UK97-2;Q59EH8;Q9UK97	.|.;.;FBX9_HUMAN	R|V	111|357;391;401	.|ENSP00000359977:I357V;ENSP00000326968:I391V;ENSP00000244426:I401V	.|ENSP00000244426:I401V	H|I	+|+	2|1	0|0	FBXO9|FBXO9	53068387|53068387	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.347000|4.347000	0.59373|0.59373	0.385000|0.385000	0.24970|0.24970	0.528000|0.528000	0.53228|0.53228	CAT|ATC		0.378	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040950.3			18	36	0	0	0	1	0	18	36				
VCAN	1462	broad.mit.edu	37	5	82789630	82789630	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:82789630A>G	ENST00000265077.3	+	5	1193	c.628A>G	c.(628-630)Atc>Gtc	p.I210V	VCAN_ENST00000512590.2_Missense_Mutation_p.I162V|VCAN_ENST00000513984.1_Missense_Mutation_p.I210V|VCAN_ENST00000343200.5_Missense_Mutation_p.I210V|VCAN_ENST00000502527.2_Missense_Mutation_p.I210V|VCAN_ENST00000342785.4_Missense_Mutation_p.I210V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	210	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CAGATATCCCATCCGGGCTCC	0.478																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(628-630)Atc>Gtc		versican							113.0	112.0	112.0					5																	82789630		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82789630A>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.628A>G	5.37:g.82789630A>G	ENSP00000265077:p.Ile210Val					VCAN_ENST00000502527.2_Missense_Mutation_p.I210V|VCAN_ENST00000343200.5_Missense_Mutation_p.I210V|VCAN_ENST00000512590.2_Missense_Mutation_p.I162V|VCAN_ENST00000513984.1_Missense_Mutation_p.I210V|VCAN_ENST00000342785.4_Missense_Mutation_p.I210V	p.I210V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	5	1193	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	210			Link 1.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.628A>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.497996	0.85069	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93;2.93	5.87	5.87	0.94306	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.000000	0.64402	D	0.000012	T	0.30696	0.0773	L	0.58510	1.815	0.51767	D	0.999934	D;P;D;D;D	0.76494	0.961;0.923;0.999;0.974;0.971	D;P;D;D;D	0.80764	0.933;0.906;0.994;0.93;0.933	T	0.00860	-1.1537	10	0.62326	D	0.03	.	16.2674	0.82597	1.0:0.0:0.0:0.0	.	210;210;210;210;210	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	V	210;210;210;162;210;210;210	ENSP00000265077:I210V;ENSP00000340062:I210V;ENSP00000342768:I210V;ENSP00000425959:I162V;ENSP00000426251:I210V;ENSP00000426715:I210V;ENSP00000421362:I210V	ENSP00000265077:I210V	I	+	1	0	VCAN	82825386	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.359000	0.66074	2.242000	0.73789	0.533000	0.62120	ATC		0.478	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		52	59	0	0	0	1	0	52	59				
TMEM91	641649	broad.mit.edu	37	19	41888709	41888709	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:41888709G>C	ENST00000392002.2	+	3	903	c.243G>C	c.(241-243)tgG>tgC	p.W81C	CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000539627.1_Missense_Mutation_p.W81C|TMEM91_ENST00000413014.2_Missense_Mutation_p.W81C|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000604123.1_Missense_Mutation_p.W138C|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000436170.2_Missense_Mutation_p.W81C|TMEM91_ENST00000447302.2_Missense_Mutation_p.W81C|TMEM91_ENST00000544232.1_Missense_Mutation_p.W81C|TMEM91_ENST00000542945.1_Missense_Mutation_p.W81C|TMEM91_ENST00000356385.4_Missense_Mutation_p.W81C	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91	81					hematopoietic progenitor cell differentiation (GO:0002244)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						ACTCGGACTGGGATGGAGGCA	0.577																																						ENST00000539627.1																			0				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						c.(241-243)tgG>tgC		transmembrane protein 91							368.0	370.0	370.0					19																	41888709		2112	4213	6325	SO:0001583	missense	641649							g.chr19:41888709G>C	AK130820, BC063705	CCDS42571.1, CCDS42572.1, CCDS46082.1, CCDS46083.1, CCDS46084.1	19q13.2	2009-10-16							32393	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 6"""					12477932	Standard	NM_001098824		Approved	FLJ27310, IFITMD6		Q6ZNR0		ENST00000392002.2:c.243G>C	19.37:g.41888709G>C	ENSP00000375859:p.Trp81Cys					TMEM91_ENST00000356385.4_Missense_Mutation_p.W81C|TMEM91_ENST00000542945.1_Missense_Mutation_p.W81C|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000436170.2_Missense_Mutation_p.W81C|TMEM91_ENST00000413014.2_Missense_Mutation_p.W81C|TMEM91_ENST00000604123.1_Missense_Mutation_p.W138C|TMEM91_ENST00000544232.1_Missense_Mutation_p.W81C|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000447302.2_Missense_Mutation_p.W81C|TMEM91_ENST00000392002.2_Missense_Mutation_p.W81C	p.W81C							3	564	+								C9J9D1|C9JZ62|C9K046|Q6P434	Missense_Mutation	SNP	ENST00000392002.2	37	c.243G>C	CCDS42571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.459|8.459	0.854778|0.854778	0.17106|0.17106	.|.	.|.	ENSG00000142046|ENSG00000142046	ENST00000546362;ENST00000535712|ENST00000539627;ENST00000413014;ENST00000392002;ENST00000436170;ENST00000447302;ENST00000544232;ENST00000542945;ENST00000537354;ENST00000342187;ENST00000356385	.|D	.|0.95205	.|-3.64	4.52|4.52	0.998|0.998	0.19857|0.19857	.|.	.|.	.|.	.|.	.|.	D|D	0.86977|0.86977	0.6063|0.6063	N|N	0.16478|0.16478	0.41|0.41	0.37506|0.37506	D|D	0.916978|0.916978	.|B;B;B;B;B;B	.|0.12013	.|0.0;0.0;0.001;0.005;0.0;0.002	.|B;B;B;B;B;B	.|0.15052	.|0.003;0.003;0.002;0.012;0.001;0.002	T|T	0.79288|0.79288	-0.1865|-0.1865	5|9	.|0.56958	.|D	.|0.05	.|.	7.162|7.162	0.25669|0.25669	0.0:0.2984:0.3751:0.3265|0.0:0.2984:0.3751:0.3265	.|.	.|81;81;81;81;81;81	.|C9J9D1;C9JZ62;C9K046;Q6P434;Q6ZNR0;F5GWC9	.|.;.;.;.;TMM91_HUMAN;.	R|C	29;2|81	.|ENSP00000375859:W81C	.|ENSP00000345589:W81C	G|W	+|+	1|3	0|0	TMEM91|TMEM91	46580549|46580549	0.950000|0.950000	0.32346|0.32346	0.994000|0.994000	0.49952|0.49952	0.576000|0.576000	0.36127|0.36127	-0.016000|-0.016000	0.12613|0.12613	0.193000|0.193000	0.20303|0.20303	0.505000|0.505000	0.49811|0.49811	GGA|TGG		0.577	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398302.2			6	430	0	0	0	1	0	6	430				
KIAA1468	57614	broad.mit.edu	37	18	59854900	59854900	+	Silent	SNP	G	G	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:59854900G>A	ENST00000398130.2	+	1	394	c.162G>A	c.(160-162)tcG>tcA	p.S54S	PIGN_ENST00000400334.3_5'Flank|KIAA1468_ENST00000256858.6_Silent_p.S54S|PIGN_ENST00000593225.1_5'Flank|PIGN_ENST00000357637.5_5'Flank	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	54										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CTGCGGGCTCGCTGTCGCCAC	0.687																																						ENST00000256858.6																			0				autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(160-162)tcG>tcA		KIAA1468							45.0	55.0	52.0					18																	59854900		1994	4142	6136	SO:0001819	synonymous_variant	57614						binding	g.chr18:59854900G>A	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.162G>A	18.37:g.59854900G>A						KIAA1468_ENST00000398130.2_Silent_p.S54S	p.S54S			Q9P260	K1468_HUMAN			1	410	+		Colorectal(73;0.186)	54						Silent	SNP	ENST00000398130.2	37	c.162G>A	CCDS11979.2																																																																																				0.687	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		16	62	0	0	0	1	0	16	62				
ZNF236	7776	broad.mit.edu	37	18	74637193	74637193	+	Missense_Mutation	SNP	A	A	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr18:74637193A>T	ENST00000253159.8	+	22	3902	c.3704A>T	c.(3703-3705)aAg>aTg	p.K1235M	ZNF236_ENST00000320610.9_Missense_Mutation_p.K1237M	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1235					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TTCTCCACGAAGGGAAGTCTG	0.567																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(3703-3705)aAg>aTg		zinc finger protein 236							70.0	72.0	72.0					18																	74637193		2080	4218	6298	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74637193A>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3704A>T	18.37:g.74637193A>T	ENSP00000253159:p.Lys1235Met					ZNF236_ENST00000320610.9_Missense_Mutation_p.K1237M	p.K1235M	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	22	3902	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1235					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.3704A>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823888	0.71143	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.61859	0.07;0.07	5.29	4.09	0.47781	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	M	0.81682	2.555	0.53005	D	0.999967	D	0.89917	1.0	D	0.85130	0.997	T	0.77734	-0.2477	10	0.87932	D	0	.	12.092	0.53733	0.856:0.144:0.0:0.0	.	1235	Q9UL36	ZN236_HUMAN	M	1235	ENSP00000253159:K1235M;ENSP00000444524:K1235M	ENSP00000253159:K1235M	K	+	2	0	ZNF236	72766181	1.000000	0.71417	0.094000	0.20943	0.858000	0.48976	8.946000	0.92992	0.813000	0.34350	0.528000	0.53228	AAG		0.567	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			39	52	0	0	0	1	0	39	52				
SGSH	6448	broad.mit.edu	37	17	78188108	78188108	+	Missense_Mutation	SNP	C	C	G	rs141533664		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:78188108C>G	ENST00000326317.6	-	5	612	c.526G>C	c.(526-528)Gcc>Ccc	p.A176P	SGSH_ENST00000534910.1_5'UTR|SGSH_ENST00000570923.1_Silent_p.S187S|SGSH_ENST00000572208.1_5'UTR	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	176					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCGTGGAAGGCGACGTAGAGG	0.642																																						ENST00000326317.6																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(526-528)Gcc>Ccc		N-sulfoglucosamine sulfohydrolase							45.0	53.0	50.0					17																	78188108		2202	4300	6502	SO:0001583	missense	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78188108C>G	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.526G>C	17.37:g.78188108C>G	ENSP00000314606:p.Ala176Pro					SGSH_ENST00000570923.1_Silent_p.S187S|SGSH_ENST00000534910.1_5'UTR|SGSH_ENST00000572208.1_5'UTR	p.A176P	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		5	612	-	all_neural(118;0.0952)		176					A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	c.526G>C	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	c	13.21	2.169043	0.38315	.	.	ENSG00000181523	ENST00000326317	D	0.98926	-5.24	4.26	4.26	0.50523	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98826	0.9604	M	0.62266	1.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.99833	1.1055	10	0.66056	D	0.02	-38.053	16.861	0.86018	0.0:1.0:0.0:0.0	.	176;179	P51688;Q59EB1	SPHM_HUMAN;.	P	176	ENSP00000314606:A176P	ENSP00000314606:A176P	A	-	1	0	SGSH	75802703	1.000000	0.71417	0.794000	0.32065	0.533000	0.34776	4.693000	0.61753	2.200000	0.70718	0.558000	0.71614	GCC		0.642	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		4	44	0	0	0	1	0	4	44				
AHNAK2	113146	broad.mit.edu	37	14	105416749	105416749	+	Missense_Mutation	SNP	G	G	C	rs373360672	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:105416749G>C	ENST00000333244.5	-	7	5158	c.5039C>G	c.(5038-5040)tCg>tGg	p.S1680W	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1680						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACATCCACCGAGGCCTCGAT	0.587																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5038-5040)tCg>tGg		AHNAK nucleoprotein 2							177.0	200.0	193.0					14																	105416749		1953	4109	6062	SO:0001583	missense	113146					nucleus		g.chr14:105416749G>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5039C>G	14.37:g.105416749G>C	ENSP00000353114:p.Ser1680Trp					AHNAK2_ENST00000557457.1_Intron	p.S1680W	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5158	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1680					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5039C>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	14.31	2.497482	0.44455	.	.	ENSG00000185567	ENST00000333244	T	0.00753	5.74	3.97	3.97	0.46021	.	.	.	.	.	T	0.04724	0.0128	M	0.86343	2.81	0.09310	N	1	D	0.76494	0.999	D	0.97110	1.0	T	0.16070	-1.0415	9	0.46703	T	0.11	-9.2689	10.2466	0.43345	0.0:0.0:0.8023:0.1977	.	1680	Q8IVF2	AHNK2_HUMAN	W	1680	ENSP00000353114:S1680W	ENSP00000353114:S1680W	S	-	2	0	AHNAK2	104487794	.	.	0.002000	0.10522	0.057000	0.15508	.	.	1.757000	0.51966	0.430000	0.28490	TCG		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		18	343	0	0	0	1	0	18	343				
SLC9A7P1	121456	broad.mit.edu	37	12	98850228	98850228	+	RNA	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr12:98850228C>G	ENST00000554295.1	-	0	695					NR_033801.1				solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1																		CCTGAGATTTCCAATACGGAA	0.398																																						ENST00000554295.1																			0																																																			121456							g.chr12:98850228C>G			12q23.1	2013-05-22	2012-03-22		ENSG00000227825	ENSG00000227825		"""Solute carriers"""	32679	pseudogene	pseudogene			"""solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1"""				Standard	NR_033801		Approved		uc009ztm.2		OTTHUMG00000170629		12.37:g.98850228C>G								NR_033801.1						0	695	-									RNA	SNP	ENST00000554295.1	37																																																																																						0.398	SLC9A7P1-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000409869.1			4	42	0	0	0	1	0	4	42				
CENPE	1062	broad.mit.edu	37	4	104070429	104070429	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr4:104070429T>A	ENST00000265148.3	-	27	3622	c.3533A>T	c.(3532-3534)gAa>gTa	p.E1178V	CENPE_ENST00000380026.3_Missense_Mutation_p.E1153V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1178					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CCTCTCTGTTTCCATATGTTC	0.303																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(3532-3534)gAa>gTa		centromere protein E, 312kDa							92.0	93.0	92.0					4																	104070429		2202	4297	6499	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104070429T>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3533A>T	4.37:g.104070429T>A	ENSP00000265148:p.Glu1178Val					CENPE_ENST00000380026.3_Missense_Mutation_p.E1153V	p.E1178V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	27	3622	-			1178					A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.3533A>T	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.413150	0.25465	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.71698	-0.59;-0.59	4.0	4.0	0.46444	.	.	.	.	.	T	0.75895	0.3912	M	0.75615	2.305	0.25180	N	0.99021	P;D	0.59357	0.9;0.985	P;P	0.49999	0.628;0.603	T	0.68522	-0.5386	9	0.59425	D	0.04	.	11.585	0.50912	0.0:0.0:0.0:1.0	.	1153;1178	Q02224-3;Q02224	.;CENPE_HUMAN	V	1178;1178;1153	ENSP00000265148:E1178V;ENSP00000369365:E1153V	ENSP00000265148:E1178V	E	-	2	0	CENPE	104289878	0.001000	0.12720	0.397000	0.26308	0.064000	0.16182	0.625000	0.24477	1.790000	0.52503	0.482000	0.46254	GAA		0.303	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				26	26	0	0	0	1	0	26	26				
APOB	338	broad.mit.edu	37	2	21236290	21236290	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:21236290C>G	ENST00000233242.1	-	25	4085	c.3958G>C	c.(3958-3960)Gcc>Ccc	p.A1320P		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1320					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.A1320S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGTGGAGGGCTGGTGTCCTA	0.438																																						ENST00000233242.1																			1	Substitution - Missense(1)	p.A1320S(1)	prostate(1)	NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(3958-3960)Gcc>Ccc		apolipoprotein B	Atorvastatin(DB01076)						120.0	119.0	120.0					2																	21236290		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21236290C>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3958G>C	2.37:g.21236290C>G	ENSP00000233242:p.Ala1320Pro						p.A1320P	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			25	4085	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1320					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.3958G>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144236	0.37825	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00711	5.8	5.44	5.44	0.79542	.	0.889812	0.09718	N	0.764874	T	0.00967	0.0032	L	0.34521	1.04	0.80722	D	1	B	0.15473	0.013	B	0.12156	0.007	T	0.63985	-0.6513	10	0.28530	T	0.3	.	10.1323	0.42687	0.129:0.6862:0.1849:0.0	.	1320	P04114	APOB_HUMAN	P	1320	ENSP00000233242:A1320P	ENSP00000233242:A1320P	A	-	1	0	APOB	21089795	0.927000	0.31430	0.981000	0.43875	0.451000	0.32288	1.821000	0.39041	2.724000	0.93272	0.563000	0.77884	GCC		0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			6	78	0	0	0	1	0	6	78				
TNC	3371	broad.mit.edu	37	9	117826258	117826258	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr9:117826258C>G	ENST00000350763.4	-	12	3988	c.3577G>C	c.(3577-3579)Gag>Cag	p.E1193Q	TNC_ENST00000423613.2_Missense_Mutation_p.E1193Q|TNC_ENST00000340094.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.E1193Q	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1193	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AAAAAGTACTCATAGGCCCCT	0.582																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(3577-3579)Gag>Cag		tenascin C							110.0	113.0	112.0					9																	117826258		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117826258C>G		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3577G>C	9.37:g.117826258C>G	ENSP00000265131:p.Glu1193Gln					TNC_ENST00000423613.2_Missense_Mutation_p.E1193Q|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.E1193Q|TNC_ENST00000340094.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron	p.E1193Q	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			12	3988	-			1193			Fibronectin type-III 7.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.3577G>C	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577671	0.45902	.	.	ENSG00000041982	ENST00000350763;ENST00000341037;ENST00000423613	T;T;T	0.57107	0.42;0.42;0.42	5.84	4.01	0.46588	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.324362	0.27270	N	0.020135	T	0.52917	0.1764	L	0.56769	1.78	0.80722	D	1	B;B	0.19583	0.037;0.002	B;B	0.32090	0.14;0.027	T	0.53380	-0.8447	10	0.72032	D	0.01	.	12.238	0.54526	0.0:0.8634:0.0:0.1366	.	1193;1193	E9PC84;P24821	.;TENA_HUMAN	Q	1193	ENSP00000265131:E1193Q;ENSP00000339553:E1193Q;ENSP00000411406:E1193Q	ENSP00000339553:E1193Q	E	-	1	0	TNC	116866079	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.538000	0.36094	0.824000	0.34613	0.655000	0.94253	GAG		0.582	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		19	141	0	0	0	1	0	19	141				
OR4K17	390436	broad.mit.edu	37	14	20586299	20586299	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr14:20586299T>C	ENST00000315543.4	+	1	734	c.734T>C	c.(733-735)tTg>tCg	p.L245S		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTCATTATTTTGCTTATCTCC	0.428																																						ENST00000315543.4																			0				kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(733-735)tTg>tCg		olfactory receptor, family 4, subfamily K, member 17							152.0	147.0	149.0					14																	20586299		2203	4300	6503	SO:0001583	missense	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586299T>C		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.734T>C	14.37:g.20586299T>C	ENSP00000319197:p.Leu245Ser						p.L245S	NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	734	+	all_cancers(95;0.00108)		217					Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	c.734T>C	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	11.58	1.680955	0.29872	.	.	ENSG00000176230	ENST00000315543	T	0.00193	8.58	2.73	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27981	U	0.017079	T	0.00468	0.0015	M	0.82630	2.6	0.20074	N	0.999939	D	0.89917	1.0	D	0.91635	0.999	T	0.38950	-0.9637	10	0.87932	D	0	.	5.5953	0.17323	0.0:0.1379:0.0:0.8621	.	217	Q8NGC6	OR4KH_HUMAN	S	245	ENSP00000319197:L245S	ENSP00000319197:L245S	L	+	2	0	OR4K17	19656139	0.272000	0.24172	0.970000	0.41538	0.435000	0.31806	2.945000	0.49043	1.233000	0.43693	0.164000	0.16699	TTG		0.428	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			48	82	0	0	0	1	0	48	82				
IARS2	55699	broad.mit.edu	37	1	220279318	220279318	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:220279318G>T	ENST00000302637.5	+	9	1256	c.1152G>T	c.(1150-1152)atG>atT	p.M384I	IARS2_ENST00000366922.1_Missense_Mutation_p.M312I	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	384					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ATGTGACCATGGCAAAAGGAA	0.463																																						ENST00000366922.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(934-936)atG>atT		isoleucyl-tRNA synthetase 2, mitochondrial	L-Isoleucine(DB00167)						163.0	154.0	157.0					1																	220279318		2203	4300	6503	SO:0001583	missense	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220279318G>T	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.1152G>T	1.37:g.220279318G>T	ENSP00000303279:p.Met384Ile					IARS2_ENST00000302637.5_Missense_Mutation_p.M384I	p.M312I			Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	9	1267	+			384					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	c.936G>T	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809596	0.70797	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.36340	1.26;1.26	5.47	5.47	0.80525	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.40862	0.1134	L	0.59436	1.845	0.80722	D	1	P	0.36465	0.554	B	0.39503	0.301	T	0.14117	-1.0484	10	0.20046	T	0.44	-22.86	19.333	0.94299	0.0:0.0:1.0:0.0	.	384	Q9NSE4	SYIM_HUMAN	I	312;384	ENSP00000355889:M312I;ENSP00000303279:M384I	ENSP00000303279:M384I	M	+	3	0	IARS2	218345941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.344000	0.97050	2.571000	0.86741	0.591000	0.81541	ATG		0.463	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		34	54	1	0	9.65021e-13	1	1.1053e-12	34	54				
FUT3	2525	broad.mit.edu	37	19	5844778	5844778	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:5844778G>C	ENST00000303225.6	-	3	707	c.73C>G	c.(73-75)Ctg>Gtg	p.L25V	FUT3_ENST00000589918.1_Missense_Mutation_p.L25V|FUT3_ENST00000589620.1_Missense_Mutation_p.L25V|FUT3_ENST00000593144.1_5'Flank|AC024592.9_ENST00000589276.1_RNA|FUT3_ENST00000458379.2_Missense_Mutation_p.L25V	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	25					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						ACAGCCACCAGCAGCTGAAAT	0.612																																					Esophageal Squamous(82;745 1728 24593 44831)	ENST00000303225.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(73-75)Ctg>Gtg		fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)							27.0	26.0	26.0					19																	5844778		2203	4300	6503	SO:0001583	missense	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844778G>C		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.73C>G	19.37:g.5844778G>C	ENSP00000305603:p.Leu25Val					FUT3_ENST00000589918.1_Missense_Mutation_p.L25V|FUT3_ENST00000458379.2_Missense_Mutation_p.L25V|FUT3_ENST00000589620.1_Missense_Mutation_p.L25V	p.L25V	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN			3	707	-			25					B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	c.73C>G	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297647	0.23650	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.22945	1.93;1.93	2.33	1.03	0.20045	.	0.534810	0.14713	U	0.302818	T	0.39545	0.1082	M	0.63843	1.955	0.09310	N	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.24693	-1.0153	10	0.15952	T	0.53	.	8.1203	0.30967	0.0:0.2527:0.7473:0.0	.	25;25;25;25	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	V	25	ENSP00000305603:L25V;ENSP00000416443:L25V	ENSP00000305603:L25V	L	-	1	2	FUT3	5795778	0.011000	0.17503	0.098000	0.21074	0.214000	0.24535	1.200000	0.32247	1.225000	0.43566	0.205000	0.17691	CTG		0.612	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		3	36	0	0	0	1	0	3	36				
SLC25A13	10165	broad.mit.edu	37	7	95761098	95761098	+	Silent	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:95761098C>G	ENST00000265631.5	-	15	1684	c.1548G>C	c.(1546-1548)ggG>ggC	p.G516G	SLC25A13_ENST00000416240.2_Silent_p.G517G|SLC25A13_ENST00000542654.1_Silent_p.G408G			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	516					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GGCTAACCTGCCCATCTTCAT	0.547																																						ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(1549-1551)ggG>ggC		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						83.0	72.0	76.0					7																	95761098		2203	4300	6503	SO:0001819	synonymous_variant	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95761098C>G	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1548G>C	7.37:g.95761098C>G						SLC25A13_ENST00000265631.5_Silent_p.G516G|SLC25A13_ENST00000542654.1_Silent_p.G408G	p.G517G	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		15	1741	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		516					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Silent	SNP	ENST00000265631.5	37	c.1551G>C	CCDS5645.1																																																																																				0.547	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		3	39	0	0	0	1	0	3	39				
ATIC	471	broad.mit.edu	37	2	216211560	216211560	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:216211560C>G	ENST00000236959.9	+	14	1725	c.1399C>G	c.(1399-1401)Ctt>Gtt	p.L467V	ATIC_ENST00000540518.1_Missense_Mutation_p.L408V|ATIC_ENST00000435675.1_Missense_Mutation_p.L466V	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	467					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CTATTGGTGGCTTAGACACCA	0.458			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1396-1398)Ctt>Gtt		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						176.0	156.0	163.0					2																	216211560		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216211560C>G		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1399C>G	2.37:g.216211560C>G	ENSP00000236959:p.Leu467Val					ATIC_ENST00000236959.9_Missense_Mutation_p.L467V|ATIC_ENST00000540518.1_Missense_Mutation_p.L408V	p.L466V			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	13	1787	+		Renal(323;0.229)	467					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.1396C>G	CCDS2398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.172388|5.172388	0.94807|0.94807	.|.	.|.	ENSG00000138363|ENSG00000138363	ENST00000446622;ENST00000426233|ENST00000236959;ENST00000540518;ENST00000435675	.|T;T;T	.|0.78246	.|-1.16;-1.16;-1.16	5.8|5.8	5.8|5.8	0.92144|0.92144	.|AICAR transformylase domain (1);Cytidine deaminase-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87993|0.87993	0.6318|0.6318	H|H	0.95004|0.95004	3.61|3.61	0.80722|0.80722	D|D	1|1	.|P;P	.|0.43826	.|0.818;0.818	.|B;P	.|0.45946	.|0.429;0.498	D|D	0.90456|0.90456	0.4442|0.4442	5|10	.|0.87932	.|D	.|0	-20.5193|-20.5193	20.418|20.418	0.99029|0.99029	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|466;467	.|E9PBU3;P31939	.|.;PUR9_HUMAN	G|V	160;135|467;408;466	.|ENSP00000236959:L467V;ENSP00000440523:L408V;ENSP00000415935:L466V	.|ENSP00000236959:L467V	A|L	+|+	2|1	0|0	ATIC|ATIC	215919805|215919805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.944000|5.944000	0.70219|0.70219	2.902000|2.902000	0.99343|0.99343	0.650000|0.650000	0.86243|0.86243	GCT|CTT		0.458	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		21	92	0	0	0	1	0	21	92				
PCDHGB4	8641	broad.mit.edu	37	5	140768893	140768893	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:140768893C>G	ENST00000519479.1	+	1	1442	c.1442C>G	c.(1441-1443)cCc>cGc	p.P481R	PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	481	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTTGGGGCCCAACGGCCAA	0.582																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(1441-1443)cCc>cGc									68.0	76.0	74.0					5																	140768893		1961	4134	6095	SO:0001583	missense	8641							g.chr5:140768893C>G	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1442C>G	5.37:g.140768893C>G	ENSP00000428288:p.Pro481Arg					PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron	p.P481R	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1442	+								O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1442C>G	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	6.086	0.384201	0.11524	.	.	ENSG00000253953	ENST00000519479	T	0.55052	0.54	5.18	1.13	0.20643	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35595	0.0937	N	0.12831	0.26	0.09310	N	1	P;B	0.36354	0.549;0.302	P;B	0.45449	0.481;0.392	T	0.28038	-1.0056	9	0.21540	T	0.41	.	4.1487	0.10228	0.2422:0.4717:0.208:0.0782	.	481;481	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	R	481	ENSP00000428288:P481R	ENSP00000428288:P481R	P	+	2	0	PCDHGB4	140749077	0.000000	0.05858	0.060000	0.19600	0.001000	0.01503	-0.402000	0.07223	0.676000	0.31285	-0.175000	0.13238	CCC		0.582	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		14	111	0	0	0	1	0	14	111				
POLR2M	81488	broad.mit.edu	37	15	58004253	58004253	+	Missense_Mutation	SNP	G	G	T	rs535153229	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:58004253G>T	ENST00000299638.3	+	3	1044	c.830G>T	c.(829-831)cGg>cTg	p.R277L	GCOM1_ENST00000484300.1_3'UTR|POLR2M_ENST00000380557.4_Missense_Mutation_p.R120L|POLR2M_ENST00000380563.2_Missense_Mutation_p.R277L|GCOM1_ENST00000380569.2_Missense_Mutation_p.R459L|GCOM1_ENST00000587652.1_Missense_Mutation_p.R674L|GCOM1_ENST00000380568.3_Intron	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M	277					maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)										TCAGAAGAGCGGCGGCGCAGG	0.468																																						ENST00000299638.3																			0											c.(829-831)cGg>cTg		polymerase (RNA) II (DNA directed) polypeptide M							63.0	64.0	63.0					15																	58004253		2192	4292	6484	SO:0001583	missense	81488							g.chr15:58004253G>T	AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"""RNA polymerase subunits"""	14862	protein-coding gene	gene with protein product		606485	"""glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"""	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	ENST00000299638.3:c.830G>T	15.37:g.58004253G>T	ENSP00000299638:p.Arg277Leu					POLR2M_ENST00000380557.4_Missense_Mutation_p.R120L|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000587652.1_Missense_Mutation_p.R674L|GCOM1_ENST00000380569.2_Missense_Mutation_p.R459L|POLR2M_ENST00000380563.2_Missense_Mutation_p.R277L|GCOM1_ENST00000380568.3_Intron	p.R277L	NM_015532.3	NP_056347.1					3	1044	+								Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	Missense_Mutation	SNP	ENST00000299638.3	37	c.830G>T	CCDS32252.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141705	0.77775	.	.	ENSG00000137878;ENSG00000255529;ENSG00000255529;ENSG00000255529	ENST00000380569;ENST00000380563;ENST00000299638;ENST00000380557	T	0.27256	1.68	4.76	3.83	0.44106	.	0.321794	0.31760	N	0.007111	T	0.35913	0.0948	.	.	.	0.27991	N	0.935653	D;P;P	0.52996	0.957;0.891;0.675	P;B;B	0.52909	0.713;0.355;0.253	T	0.17137	-1.0379	9	0.54805	T	0.06	-19.9739	11.4112	0.49927	0.0917:0.0:0.9083:0.0	.	120;277;459	P0CAP2-2;P0CAP2;P0CAP1-11	.;GRL1A_HUMAN;.	L	459;277;277;120	ENSP00000369943:R459L	ENSP00000369943:R459L	R	+	2	0	GCOM1;GRINL1A	55791545	0.984000	0.35163	0.964000	0.40570	0.988000	0.76386	4.051000	0.57412	1.330000	0.45394	0.591000	0.81541	CGG		0.468	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255719.2			21	32	1	0	1.9806e-07	1	2.15819e-07	21	32				
AKAP13	11214	broad.mit.edu	37	15	86123873	86123873	+	Missense_Mutation	SNP	C	C	G	rs202087369		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:86123873C>G	ENST00000394518.2	+	7	2669	c.2574C>G	c.(2572-2574)caC>caG	p.H858Q	AKAP13_ENST00000361243.2_Missense_Mutation_p.H858Q|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	858					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.E855_G859>G(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGCTTCAGCACGGGATGGGGA	0.562																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			1	Complex - deletion inframe(1)	p.E855_G859>G(1)	kidney(1)	NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(2572-2574)caC>caG		A kinase (PRKA) anchor protein 13							71.0	74.0	73.0					15																	86123873		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86123873C>G	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.2574C>G	15.37:g.86123873C>G	ENSP00000378026:p.His858Gln					AKAP13_ENST00000361243.2_Missense_Mutation_p.H858Q	p.H858Q	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			7	2669	+			858					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.2574C>G	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	1.150	-0.647043	0.03506	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.10960	2.82;2.82	5.68	-0.221	0.13126	.	.	.	.	.	T	0.04861	0.0131	N	0.08118	0	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.42327	-0.9458	9	0.30854	T	0.27	.	6.4207	0.21742	0.233:0.5445:0.0:0.2224	.	858;858	Q12802;Q12802-2	AKP13_HUMAN;.	Q	858;858;857;857	ENSP00000354718:H858Q;ENSP00000378026:H858Q	ENSP00000354718:H858Q	H	+	3	2	AKAP13	83924877	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-0.273000	0.08548	-0.125000	0.11703	-0.797000	0.03246	CAC		0.562	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		15	94	0	0	0	1	0	15	94				
KLHL4	56062	broad.mit.edu	37	X	86919875	86919875	+	Missense_Mutation	SNP	C	C	A	rs150763346	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:86919875C>A	ENST00000373119.4	+	10	2182	c.2037C>A	c.(2035-2037)gaC>gaA	p.D679E	KLHL4_ENST00000373114.4_Missense_Mutation_p.D679E	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	679						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GAGGATATGACGGACATACTT	0.403																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(2035-2037)gaC>gaA		kelch-like family member 4							177.0	121.0	140.0					X																	86919875		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86919875C>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.2037C>A	X.37:g.86919875C>A	ENSP00000362211:p.Asp679Glu					KLHL4_ENST00000373114.4_Missense_Mutation_p.D679E	p.D679E	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			10	2182	+			679					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.2037C>A	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987854	0.53934	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.80393	-0.47;-1.37	4.06	1.49	0.22878	Galactose oxidase, beta-propeller (1);	0.050322	0.85682	D	0.000000	D	0.87038	0.6078	M	0.83953	2.67	0.47547	D	0.999451	D;D	0.65815	0.98;0.995	D;P	0.66351	0.943;0.905	D	0.84781	0.0773	10	0.87932	D	0	.	7.5281	0.27666	0.0:0.1948:0.0:0.8052	.	679;679	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	E	679	ENSP00000362211:D679E;ENSP00000362206:D679E	ENSP00000362206:D679E	D	+	3	2	KLHL4	86806531	1.000000	0.71417	0.993000	0.49108	0.884000	0.51177	0.972000	0.29409	0.076000	0.16826	-0.700000	0.03674	GAC		0.403	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			10	30	1	0	3.07112e-06	1	3.27677e-06	10	30				
ATP8B2	57198	broad.mit.edu	37	1	154306600	154306600	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:154306600C>T	ENST00000368489.3	+	10	706	c.706C>T	c.(706-708)Cct>Tct	p.P236S	ATP8B2_ENST00000368487.3_Missense_Mutation_p.P203S|ATP8B2_ENST00000341822.2_Missense_Mutation_p.P222S|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	222					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GATCTGTGAACCTCCCAACAA	0.463																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(706-708)Cct>Tct		ATPase, aminophospholipid transporter, class I, type 8B, member 2							245.0	258.0	254.0					1																	154306600		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154306600C>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.706C>T	1.37:g.154306600C>T	ENSP00000357475:p.Pro236Ser					ATP8B2_ENST00000341822.2_Missense_Mutation_p.P222S|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.P203S	p.P236S	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		10	706	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		222					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.706C>T	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402284	0.42613	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	T;T;T	0.72725	-0.68;-0.68;-0.68	5.3	4.36	0.52297	ATPase, P-type, ATPase-associated domain (1);	0.276998	0.35646	N	0.003069	T	0.51787	0.1695	L	0.55743	1.74	0.46096	D	0.998861	P;P;B	0.46020	0.871;0.846;0.08	P;P;B	0.49799	0.622;0.557;0.059	T	0.62900	-0.6756	10	0.02654	T	1	.	9.7919	0.40710	0.1582:0.6891:0.1527:0.0	.	222;236;203	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	S	203;236;222	ENSP00000357472:P203S;ENSP00000357475:P236S;ENSP00000340448:P222S	ENSP00000340448:P222S	P	+	1	0	ATP8B2	152573224	1.000000	0.71417	0.970000	0.41538	0.957000	0.61999	3.077000	0.50089	1.426000	0.47256	0.591000	0.81541	CCT		0.463	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		136	202	0	0	0	1	0	136	202				
ZFHX4	79776	broad.mit.edu	37	8	77767191	77767191	+	Silent	SNP	G	G	C	rs561390652	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:77767191G>C	ENST00000521891.2	+	10	8482	c.8034G>C	c.(8032-8034)ccG>ccC	p.P2678P	ZFHX4_ENST00000455469.2_Silent_p.P2633P|ZFHX4_ENST00000518282.1_Silent_p.P2652P|ZFHX4_ENST00000050961.6_Silent_p.P2633P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2633					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACGGTGTCCGTTTTGCCGAG	0.542										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(8032-8034)ccG>ccC		zinc finger homeobox 4							58.0	59.0	59.0					8																	77767191		1943	4141	6084	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767191G>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8034G>C	8.37:g.77767191G>C		HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Silent_p.P2633P|ZFHX4_ENST00000050961.6_Silent_p.P2633P|ZFHX4_ENST00000518282.1_Silent_p.P2652P	p.P2678P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8482	+			2633					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.8034G>C	CCDS47878.2																																																																																				0.542	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		7	103	0	0	0	1	0	7	103				
MST1L	11223	broad.mit.edu	37	1	17085003	17085003	+	RNA	DEL	C	C	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:17085003delC	ENST00000455405.2	-	0	185							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										GCCCGGATGGCCCCCAGCCAC	0.607																																						ENST00000455405.2																			0																																																			11223							g.chr1:17085003delC	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085003delC														0	185	-								B7WPB1|Q13209	RNA	DEL	ENST00000455405.2	37																																																																																						0.607	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		14	112						14	112	---	---	---	---
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Intron	DEL	TG	TG	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:32670247_32670248delTG	ENST00000373602.5	+	5	895				CCDC28B_ENST00000421922.2_Frame_Shift_Del_p.C192fs|CCDC28B_ENST00000483009.1_Intron|RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000291358.6_5'Flank|RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000537469.1_5'Flank	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B						cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.5																																						ENST00000421922.2																			0				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(574-576)tfs		coiled-coil domain containing 28B																																				SO:0001627	intron_variant	79140							g.chr1:32670247_32670248delTG	BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.548+26TG>-	1.37:g.32670255_32670256delTG						CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron	p.C192fs			Q9BUN5	CC28B_HUMAN			5	674_675	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	0					A8K789|Q8TBV8	Frame_Shift_Del	DEL	ENST00000373602.5	37	c.574_575delTG	CCDS354.2																																																																																				0.500	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4	NM_024296		7	251						7	251	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145580584	145580584	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:145580584G>T	ENST00000393045.2	+	7	974	c.884G>T	c.(883-885)cGg>cTg	p.R295L	PIAS3_ENST00000369298.1_Missense_Mutation_p.R260L|PIAS3_ENST00000369299.3_3'UTR	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	295					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGGGTATCCGGAACCCAGAC	0.512																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(883-885)cGg>cTg		protein inhibitor of activated STAT, 3							100.0	87.0	91.0					1																	145580584		2203	4300	6503	SO:0001583	missense	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145580584G>T	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.884G>T	1.37:g.145580584G>T	ENSP00000376765:p.Arg295Leu					PIAS3_ENST00000369298.1_Missense_Mutation_p.R260L|PIAS3_ENST00000369299.3_3'UTR	p.R295L	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			7	974	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		295					Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	37	c.884G>T	CCDS920.2	.	.	.	.	.	.	.	.	.	.	G	31	5.066244	0.93898	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.35789	1.29;1.35	5.11	5.11	0.69529	.	0.000000	0.56097	D	0.000038	T	0.48607	0.1509	L	0.60455	1.87	0.80722	D	1	D	0.63880	0.993	D	0.74023	0.982	T	0.43410	-0.9393	10	0.54805	T	0.06	-12.6374	16.0656	0.80867	0.0:0.0:1.0:0.0	.	295	Q9Y6X2	PIAS3_HUMAN	L	295;260	ENSP00000376765:R295L;ENSP00000358304:R260L	ENSP00000358304:R260L	R	+	2	0	PIAS3	144291941	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.810000	0.86072	2.665000	0.90641	0.655000	0.94253	CGG		0.512	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		13	29	1	0	9.05144e-12	1	1.02688e-11	13	29				
ACP6	51205	broad.mit.edu	37	1	147131637	147131637	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:147131637delC	ENST00000369238.6	-	3	800	c.353delG	c.(352-354)ggcfs	p.G118fs	ACP6_ENST00000392988.2_Frame_Shift_Del_p.G118fs	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	118	Substrate binding. {ECO:0000250}.				dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					AGCAAACATGCCCCCCTAAAG	0.498																																						ENST00000369238.5																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16						c.(352-354)gcfs		acid phosphatase 6, lysophosphatidic							73.0	71.0	71.0					1																	147131637		2203	4300	6503	SO:0001589	frameshift_variant	51205				lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding	g.chr1:147131637delC	BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.353delG	1.37:g.147131637delC	ENSP00000358241:p.Gly118fs					ACP6_ENST00000392988.2_Frame_Shift_Del_p.G118fs	p.G118fs	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN			3	800	-	all_hematologic(923;0.0276)		118					Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Frame_Shift_Del	DEL	ENST00000369238.6	37	c.353delG	CCDS928.1																																																																																				0.498	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361		18	30						18	30	---	---	---	---
PBX1	5087	broad.mit.edu	37	1	164776830	164776830	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr1:164776830delT	ENST00000420696.2	+	5	941	c.753delT	c.(751-753)tatfs	p.Y251fs	PBX1_ENST00000540236.1_Frame_Shift_Del_p.Y251fs|PBX1_ENST00000560641.1_Frame_Shift_Del_p.Y146fs|PBX1_ENST00000540246.1_Frame_Shift_Del_p.Y146fs|PBX1_ENST00000401534.1_Frame_Shift_Del_p.Y251fs|PBX1_ENST00000367897.1_Frame_Shift_Del_p.Y251fs|PBX1_ENST00000559240.1_Frame_Shift_Del_p.Y251fs	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	251					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TGAATGAATATTTCTATTCCC	0.433			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	ENST00000420696.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	"""TCF3, EWSR1"""		"""pre B-ALL, myoepithelioma"""	EWSR1/PBX1(3)	0				large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(751-753)tafs		pre-B-cell leukemia homeobox 1							139.0	151.0	147.0					1																	164776830		2203	4300	6503	SO:0001589	frameshift_variant	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164776830delT	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.753delT	1.37:g.164776830delT	ENSP00000405890:p.Tyr251fs					PBX1_ENST00000367897.1_Frame_Shift_Del_p.Y251fs|PBX1_ENST00000540236.1_Frame_Shift_Del_p.Y251fs|PBX1_ENST00000560641.1_Frame_Shift_Del_p.Y146fs|PBX1_ENST00000540246.1_Frame_Shift_Del_p.Y146fs|PBX1_ENST00000401534.1_Frame_Shift_Del_p.Y251fs|PBX1_ENST00000559240.1_Frame_Shift_Del_p.Y251fs	p.Y251fs	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN			5	941	+			251					B4DSC1|F5H4U9|Q5T488	Frame_Shift_Del	DEL	ENST00000420696.2	37	c.753delT	CCDS1246.1																																																																																				0.433	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		37	159						37	159	---	---	---	---
LINC01122	400955	broad.mit.edu	37	2	58689097	58689098	+	lincRNA	INS	-	-	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:58689097_58689098insA	ENST00000452840.1	+	0	195																											AAGGGTTGGAGAACGGCTCACT	0.455																																						ENST00000452840.1																			0																																																			400955							g.chr2:58689097_58689098insA																													2.37:g.58689099_58689099dupA														0	195	+									RNA	INS	ENST00000452840.1	37																																																																																						0.455	AC007092.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000327022.1			55	81						55	81	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179486220	179486221	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179486220_179486221insA	ENST00000591111.1	-	195	40631_40632	c.40407_40408insT	c.(40405-40410)gatggcfs	p.G13470fs	TTN_ENST00000342992.6_Frame_Shift_Ins_p.G12543fs|TTN_ENST00000342175.6_Frame_Shift_Ins_p.G6238fs|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Ins_p.G15111fs|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.G6171fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.G6046fs|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13470	Ig-like 90.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGACTTTGCCATCGGTTCGAG	0.391																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(45328-45333)gagcaafs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179486220_179486221insA	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40408dupT	2.37:g.179486221_179486221dupA	ENSP00000465570:p.Gly13470fs					TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.EQ12542fs|TTN_ENST00000342175.6_Frame_Shift_Ins_p.EQ6237fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.EQ6045fs|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.EQ6170fs|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.EQ13469fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.EQ15110fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		245	45554_45555	-			13469					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Ins	INS	ENST00000591111.1	37	c.45330_45331insT																																																																																					0.391	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	35						22	35	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179577870	179577870	+	Frame_Shift_Del	DEL	T	T	-	rs61232800	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr2:179577870delT	ENST00000591111.1	-	91	26264	c.26040delA	c.(26038-26040)acafs	p.T8680fs	TTN_ENST00000342992.6_Frame_Shift_Del_p.T7753fs|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.T8997fs|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12837	Ig-like 69.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCTATACATGTGTAGTCAC	0.388																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(26989-26991)acfs		titin							90.0	90.0	90.0					2																	179577870		1982	4172	6154	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179577870delT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.26040delA	2.37:g.179577870delT	ENSP00000465570:p.Thr8680fs					TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.T7753fs|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.T8680fs|TTN-AS1_ENST00000592630.1_RNA	p.T8997fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		93	27215	-			8680			Ig-like 73.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.26991delA																																																																																					0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	39						16	39	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176707798	176707798	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr5:176707798delG	ENST00000439151.2	+	18	5900	c.5855delG	c.(5854-5856)cggfs	p.R1952fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.R1849fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.R1683fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.R1683fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1952	S-adenosyl-L-methionine binding.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACATTACAGCGGGGTTGGGGT	0.453			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(5854-5856)cgfs		nuclear receptor binding SET domain protein 1							71.0	72.0	72.0					5																	176707798		2203	4300	6503	SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176707798delG	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5855delG	5.37:g.176707798delG	ENSP00000395929:p.Arg1952fs	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Frame_Shift_Del_p.R1849fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.R1683fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.R1683fs	p.R1952fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	18	5900	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1952			S-adenosyl-L-methionine binding.|SET.		Q96PD8|Q96RN7	Frame_Shift_Del	DEL	ENST00000439151.2	37	c.5855delG	CCDS4412.1																																																																																				0.453	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		30	52						30	52	---	---	---	---
MRPL2	51069	broad.mit.edu	37	6	43023334	43023335	+	In_Frame_Ins	INS	-	-	CGCAGT			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:43023334_43023335insCGCAGT	ENST00000388752.3	-	6	1077_1078	c.653_654insACTGCG	c.(652-654)cgg>cgACTGCGg	p.218_218R>RLR	CUL7_ENST00000535468.1_5'Flank|MRPL2_ENST00000230413.5_Intron|CUL7_ENST00000265348.3_5'Flank|MRPL2_ENST00000489623.1_Intron	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	218					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		CATTCACCTTCCGCAGTAGCAC	0.545																																						ENST00000388752.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9						c.(652-654)caa>cACTGCGaa		mitochondrial ribosomal protein L2																																				SO:0001652	inframe_insertion	51069				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr6:43023334_43023335insCGCAGT	AB051617	CCDS34454.1, CCDS75458.1	6p21.3	2012-09-13			ENSG00000112651	ENSG00000112651		"""Mitochondrial ribosomal proteins / large subunits"""	14056	protein-coding gene	gene with protein product		611822					Standard	XM_005249161		Approved	MRP-L14, RPML14, CGI-22	uc003ots.1	Q5T653	OTTHUMG00000014719	ENST00000388752.3:c.648_653dupACTGCG	6.37:g.43023335_43023340dupCGCAGT	ENSP00000373404:p.LeuArg218dup					MRPL2_ENST00000489623.1_Intron|MRPL2_ENST00000230413.5_Intron	p.218_218Q>HCE	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)	6	1077_1078	-		Ovarian(999;0.0014)	218					B2RC56|Q8WUL1|Q96Q56|Q9Y311	In_Frame_Ins	INS	ENST00000388752.3	37	c.653_654insACTGCG	CCDS34454.1																																																																																				0.545	MRPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040577.2			14	74						14	74	---	---	---	---
MCM3	4172	broad.mit.edu	37	6	52141929	52141929	+	Frame_Shift_Del	DEL	G	G	-	rs77113422	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr6:52141929delG	ENST00000229854.7	-	8	1177	c.1101delC	c.(1099-1101)cccfs	p.P367fs	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Frame_Shift_Del_p.P321fs|MCM3_ENST00000596288.1_Frame_Shift_Del_p.P412fs			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	367	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GGCCAGTGGTGGGGATAGCTC	0.602																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(1234-1236)ccfs		minichromosome maintenance complex component 3							59.0	60.0	59.0					6																	52141929		2203	4300	6503	SO:0001589	frameshift_variant	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52141929delG	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1101delC	6.37:g.52141929delG	ENSP00000229854:p.Pro367fs					MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Frame_Shift_Del_p.P321fs|MCM3_ENST00000229854.7_Frame_Shift_Del_p.P367fs	p.P412fs	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			8	1263	-	Lung NSC(77;0.0931)		367			MCM.		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Frame_Shift_Del	DEL	ENST00000229854.7	37	c.1236delC																																																																																					0.602	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			24	34						24	34	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11871470	11871481	+	In_Frame_Del	DEL	GCAGCGGCAGCG	GCAGCGGCAGCG	-	rs536177295	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:11871470_11871481delGCAGCGGCAGCG	ENST00000423059.4	-	1	343_354	c.92_103delCGCTGCCGCTGC	c.(91-105)ccgctgccgctgctc>ctc	p.PLPL31del		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	31					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		agcagcaggagcagcggcagcggcagcggcag	0.774										HNSCC(18;0.044)				192	0.0383387	0.0068	0.0086	5008	,	,		7998	0.0615		0.0249	False		,,,				2504	0.092					ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(91-105)ctc>c		thrombospondin, type I, domain containing 7A				3,26,1613		1,0,1,10,6,803						1.7	0.2			6	40,97,3805		11,0,18,22,53,1867	no	codingComplex	THSD7A	NM_015204.2		12,0,19,32,59,2670	A1A1,A1A2,A1R,A2A2,A2R,RR		3.4754,1.7661,2.9728				43,123,5418				SO:0001651	inframe_deletion	221981					integral to membrane		g.chr7:11871470_11871481delGCAGCGGCAGCG		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.92_103delCGCTGCCGCTGC	7.37:g.11871470_11871481delGCAGCGGCAGCG	ENSP00000406482:p.Pro31_Leu34del	HNSCC(18;0.044)					p.PLPLL31del	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	1	343_354	-			31						In_Frame_Del	DEL	ENST00000423059.4	37	c.92_103delCGCTGCCGCTGC	CCDS47543.1																																																																																				0.774	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		5	11						5	11	---	---	---	---
PRSS1	5644	broad.mit.edu	37	7	142460328	142460328	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr7:142460328delC	ENST00000311737.7	+	4	507	c.501delC	c.(499-501)agcfs	p.S167fs	PRSS1_ENST00000486171.1_Frame_Shift_Del_p.S181fs	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	167	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CTGTGCTGAGCCAGGCTAAGT	0.527																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(541-543)agfs		protease, serine, 1 (trypsin 1)							312.0	304.0	307.0					7																	142460328		2203	4300	6503	SO:0001589	frameshift_variant	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142460328delC	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.501delC	7.37:g.142460328delC	ENSP00000308720:p.Ser167fs					PRSS1_ENST00000311737.7_Frame_Shift_Del_p.S167fs	p.S181fs			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		5	560	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	167			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Frame_Shift_Del	DEL	ENST00000311737.7	37	c.543delC	CCDS5872.1																																																																																				0.527	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			52	324						52	324	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-	rs139076845		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)gagdel	p.E993del	KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del|KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGCTTTCCGGCTCCTCCTCCTCC	0.567																																						ENST00000396930.3																			0											c.(2977-2979)del		K(lysine) acetyltransferase 6A																																				SO:0001651	inframe_deletion	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41798420_41798422delCTC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2977_2979delGAG	8.37:g.41798429_41798431delCTC	ENSP00000380136:p.Glu993del					KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del	p.E993del	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			16	3520_3522	-			993			Poly-Glu.		Q76L81	In_Frame_Del	DEL	ENST00000396930.3	37	c.2977_2979delGAG	CCDS6124.1																																																																																				0.567	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		8	238						8	238	---	---	---	---
ZNF239	8187	broad.mit.edu	37	10	44052660	44052661	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:44052660_44052661insT	ENST00000306006.6	-	2	1519_1520	c.867_868insA	c.(865-870)aaacctfs	p.P290fs	ZNF239_ENST00000426961.1_Frame_Shift_Ins_p.P290fs|ZNF239_ENST00000491188.1_5'Flank|ZNF239_ENST00000535642.1_Frame_Shift_Ins_p.P290fs|ZNF239_ENST00000374446.2_Frame_Shift_Ins_p.P290fs	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CATTTATAAGGTTTTTCGCCTG	0.5																																						ENST00000306006.6																			0				endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(865-870)aacttafs		zinc finger protein 239																																				SO:0001589	frameshift_variant	8187				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	g.chr10:44052660_44052661insT	X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.868dupA	10.37:g.44052665_44052665dupT	ENSP00000307774:p.Pro290fs					ZNF239_ENST00000535642.1_Frame_Shift_Ins_p.N289fs|ZNF239_ENST00000374446.2_Frame_Shift_Ins_p.N289fs|ZNF239_ENST00000426961.1_Frame_Shift_Ins_p.N289fs	p.N289fs	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN			2	1519_1520	-			289					Q5T1G9|Q8TAS5	Frame_Shift_Ins	INS	ENST00000306006.6	37	c.867_868insA	CCDS41502.1																																																																																				0.500	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1			49	121						49	121	---	---	---	---
KNDC1	85442	broad.mit.edu	37	10	135009308	135009308	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr10:135009308delG	ENST00000304613.3	+	10	1738	c.1717delG	c.(1717-1719)gcgfs	p.A574fs	KNDC1_ENST00000368572.2_Frame_Shift_Del_p.A574fs|KNDC1_ENST00000368571.2_Frame_Shift_Del_p.A509fs			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	574	KIND 2. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCGGCCGTCCGCGGCTGAGGC	0.687																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(1717-1719)cgfs		kinase non-catalytic C-lobe domain (KIND) containing 1							18.0	18.0	18.0					10																	135009308		2185	4281	6466	SO:0001589	frameshift_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135009308delG	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1717delG	10.37:g.135009308delG	ENSP00000304437:p.Ala574fs					KNDC1_ENST00000368571.2_Frame_Shift_Del_p.A509fs|KNDC1_ENST00000368572.2_Frame_Shift_Del_p.A574fs	p.A574fs			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	10	1738	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	574			KIND 2.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Frame_Shift_Del	DEL	ENST00000304613.3	37	c.1717delG	CCDS7674.1																																																																																				0.687	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		2	4						2	4	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1031058	1031059	+	Splice_Site	INS	-	-	G	rs71464128	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:1031058_1031059insG	ENST00000421673.2	-	6	625		c.e6-2			NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAACTTGCCTGGGGTGCAGAA	0.703													GGGGG|GGGG|GGGGG|deletion	644	0.128594	0.348	0.0879	5008	,	,		7216	0.002		0.0895	False		,,,				2504	0.0317					ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.e6-2		mucin 6, oligomeric mucus/gel-forming				1070,2502		189,692,905						2.3	0.8		dbSNP_130	29	606,7194		45,516,3339	no	splice-3	MUC6	NM_005961.2		234,1208,4244	A1A1,A1R,RR		7.7692,29.9552,14.738				1676,9696				SO:0001630	splice_region_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1031058_1031059insG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.575-2->C	11.37:g.1031062_1031062dupG								NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	625	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)						O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Splice_Site	INS	ENST00000421673.2	37		CCDS44513.1																																																																																				0.703	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	Intron	3	4						3	4	---	---	---	---
AKIP1	56672	broad.mit.edu	37	11	8933164	8933165	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:8933164_8933165insC	ENST00000309377.4	+	2	258_259	c.168_169insC	c.(169-171)cccfs	p.P57fs	AKIP1_ENST00000525005.1_Frame_Shift_Ins_p.P57fs|AKIP1_ENST00000299576.5_Frame_Shift_Ins_p.P57fs|AKIP1_ENST00000534506.1_Frame_Shift_Ins_p.P57fs|AKIP1_ENST00000309357.4_Frame_Shift_Ins_p.P57fs|AKIP1_ENST00000529876.1_Frame_Shift_Ins_p.P57fs|AKIP1_ENST00000396648.2_Frame_Shift_Ins_p.P57fs|ST5_ENST00000534127.1_5'Flank|AKIP1_ENST00000534147.1_Frame_Shift_Ins_p.P57fs	NM_020642.3	NP_065693.2	Q9NQ31	AKIP1_HUMAN	A kinase (PRKA) interacting protein 1	57					substrate adhesion-dependent cell spreading (GO:0034446)	nucleus (GO:0005634)				kidney(1)|large_intestine(2)|lung(2)	5						CCCGGGAGGCGCCCCACCTAGA	0.718																																						ENST00000529876.1																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(166-171)gccccafs		A kinase (PRKA) interacting protein 1																																				SO:0001589	frameshift_variant	56672					nucleus	protein binding	g.chr11:8933164_8933165insC	AF512007	CCDS7793.1, CCDS55743.1, CCDS55744.1	11p15.3	2011-04-18	2011-04-18	2011-04-18	ENSG00000166452	ENSG00000166452			1170	protein-coding gene	gene with protein product		609191	"""chromosome 11 open reading frame 17"""	C11orf17		20562110, 18178962, 15630084	Standard	NM_020642		Approved	BCA3	uc001mgx.3	Q9NQ31	OTTHUMG00000165653	ENST00000309377.4:c.172dupC	11.37:g.8933168_8933168dupC	ENSP00000310459:p.Pro57fs					AKIP1_ENST00000534147.1_Frame_Shift_Ins_p.AP56fs|AKIP1_ENST00000534506.1_Frame_Shift_Ins_p.AP56fs|AKIP1_ENST00000396648.2_Frame_Shift_Ins_p.AP56fs|AKIP1_ENST00000299576.5_Frame_Shift_Ins_p.AP56fs|AKIP1_ENST00000309377.4_Frame_Shift_Ins_p.AP56fs|AKIP1_ENST00000525005.1_Frame_Shift_Ins_p.AP56fs|AKIP1_ENST00000309357.4_Frame_Shift_Ins_p.AP56fs	p.AP56fs			Q9NQ31	AKIP1_HUMAN			1	429_430	+			56					Q8NBS2|Q8TAC6|Q8TAD3|Q8TAE0	Frame_Shift_Ins	INS	ENST00000309377.4	37	c.168_169insC	CCDS7793.1																																																																																				0.718	AKIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385615.1	NM_020642		7	14						7	14	---	---	---	---
OR5D13	390142	broad.mit.edu	37	11	55541039	55541039	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:55541039delG	ENST00000361760.1	+	1	126	c.126delG	c.(124-126)gtgfs	p.V42fs		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TCACTGTAGTGGGGAACTTGG	0.403																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(124-126)gtfs		olfactory receptor, family 5, subfamily D, member 13							159.0	149.0	153.0					11																	55541039		2200	4296	6496	SO:0001589	frameshift_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541039delG	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.126delG	11.37:g.55541039delG	ENSP00000354800:p.Val42fs						p.V42fs	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	126	+		all_epithelial(135;0.196)	42					Q6IF68|Q6IFC9	Frame_Shift_Del	DEL	ENST00000361760.1	37	c.126delG	CCDS31507.1																																																																																				0.403	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		38	83						38	83	---	---	---	---
TMPRSS4-AS1	100526771	broad.mit.edu	37	11	117908496	117908496	+	RNA	DEL	C	C	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr11:117908496delC	ENST00000606951.1	-	0	195				TMPRSS4-AS1_ENST00000527695.1_RNA|TMPRSS4-AS1_ENST00000527329.1_RNA	NR_038318.1				TMPRSS4 antisense RNA 1																		agtacctagtccgcctagtac	0.473																																						ENST00000606951.1																			0																																																			100526771							g.chr11:117908496delC			11q23.3	2012-10-12	2012-08-15		ENSG00000255274	ENSG00000255274		"""Long non-coding RNAs"""	44179	non-coding RNA	RNA, long non-coding			"""TMPRSS4 antisense RNA 1 (non-protein coding)"""				Standard	NR_038318		Approved		uc001pry.1		OTTHUMG00000166993		11.37:g.117908496delC						TMPRSS4-AS1_ENST00000527329.1_RNA|TMPRSS4-AS1_ENST00000527695.1_RNA		NR_038318.1						0	195	-									RNA	DEL	ENST00000606951.1	37																																																																																						0.473	TMPRSS4-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000470982.1	NR_038318		46	74						46	74	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32839624	32839625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr13:32839624_32839625insT	ENST00000380250.3	+	54	8313_8314	c.7817_7818insT	c.(7816-7821)catgagfs	p.E2607fs	FRY_ENST00000542859.1_5'UTR	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2607						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACCACCGTGCATGAGGATGATC	0.46																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(7816-7818)cgafs		furry homolog (Drosophila)																																				SO:0001589	frameshift_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32839624_32839625insT	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7818dupT	13.37:g.32839625_32839625dupT	ENSP00000369600:p.Glu2607fs					FRY_ENST00000542859.1_5'UTR	p.R2606fs	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	54	8313_8314	+		Lung SC(185;0.0271)	2606					Q9Y3N6	Frame_Shift_Ins	INS	ENST00000380250.3	37	c.7817_7818insT	CCDS41875.1																																																																																				0.460	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		27	43						27	43	---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48063436	48063436	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:48063436delC	ENST00000316364.5	+	19	3115	c.2676delC	c.(2674-2676)aacfs	p.N892fs	SEMA6D_ENST00000536845.2_Frame_Shift_Del_p.N892fs|SEMA6D_ENST00000358066.4_Frame_Shift_Del_p.N830fs|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389428.3_Frame_Shift_Del_p.N817fs|SEMA6D_ENST00000354744.4_Frame_Shift_Del_p.N836fs|SEMA6D_ENST00000389432.2_Frame_Shift_Del_p.N849fs|SEMA6D_ENST00000558014.1_Frame_Shift_Del_p.N830fs|SEMA6D_ENST00000389433.2_Frame_Shift_Del_p.N873fs|SEMA6D_ENST00000537942.1_Frame_Shift_Del_p.N830fs|SEMA6D_ENST00000558816.1_3'UTR	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	892					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAAATAGTAACCCCAAAGCCA	0.488																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(2674-2676)aafs		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							94.0	84.0	87.0					15																	48063436		2198	4297	6495	SO:0001589	frameshift_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063436delC	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2676delC	15.37:g.48063436delC	ENSP00000324857:p.Asn892fs					SEMA6D_ENST00000389428.3_Frame_Shift_Del_p.N817fs|SEMA6D_ENST00000558014.1_Frame_Shift_Del_p.N830fs|SEMA6D_ENST00000389432.2_Frame_Shift_Del_p.N849fs|SEMA6D_ENST00000354744.4_Frame_Shift_Del_p.N836fs|SEMA6D_ENST00000358066.4_Frame_Shift_Del_p.N830fs|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000537942.1_Frame_Shift_Del_p.N830fs|SEMA6D_ENST00000536845.2_Frame_Shift_Del_p.N892fs|SEMA6D_ENST00000389433.2_Frame_Shift_Del_p.N873fs	p.N892fs	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	3115	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	892					A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Frame_Shift_Del	DEL	ENST00000316364.5	37	c.2676delC	CCDS32225.1																																																																																				0.488	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		12	102						12	102	---	---	---	---
CYP1A1	1543	broad.mit.edu	37	15	75013017	75013029	+	Frame_Shift_Del	DEL	CCAAAGATAATCA	CCAAAGATAATCA	-	rs72547509		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr15:75013017_75013029delCCAAAGATAATCA	ENST00000379727.3	-	7	1538_1550	c.1340_1352delTGATTATCTTTGG	c.(1339-1353)gtgattatctttggcfs	p.VIIFG447fs	CYP1A1_ENST00000567032.1_Frame_Shift_Del_p.VIIFG447fs|CYP1A1_ENST00000395049.4_Frame_Shift_Del_p.VIIFG418fs|CYP1A1_ENST00000395048.2_Frame_Shift_Del_p.VIIFG447fs			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	447					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	CTTGCCCATGCCAAAGATAATCACCTTCTCACT	0.531									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1339-1353)gcfs		cytochrome P450, family 1, subfamily A, polypeptide 1	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)																																			SO:0001589	frameshift_variant	1543	Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75013017_75013029delCCAAAGATAATCA	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.1340_1352delTGATTATCTTTGG	15.37:g.75013017_75013029delCCAAAGATAATCA	ENSP00000369050:p.Val447fs					CYP1A1_ENST00000395049.4_Frame_Shift_Del_p.VIIFG418fs|CYP1A1_ENST00000395048.2_Frame_Shift_Del_p.VIIFG447fs|CYP1A1_ENST00000567032.1_Frame_Shift_Del_p.VIIFG447fs	p.VIIFG447fs			P04798	CP1A1_HUMAN			7	1538_1550	-			447					A4F3V9|A4F3W0|Q53G18	Frame_Shift_Del	DEL	ENST00000379727.3	37	c.1340_1352delTGATTATCTTTGG	CCDS10268.1																																																																																				0.531	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		23	116						23	116	---	---	---	---
PAGR1	79447	broad.mit.edu	37	16	29828555	29828555	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr16:29828555delT	ENST00000320330.6	+	2	1069	c.507delT	c.(505-507)gatfs	p.D169fs	AC009133.20_ENST00000569039.1_RNA|AC009133.12_ENST00000564980.1_RNA|PAGR1_ENST00000609618.1_Frame_Shift_Del_p.D169fs|AC009133.12_ENST00000569809.1_RNA			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	169						histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)											CGGAATTTGATTTTGATGATG	0.567											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000320330.6																			0											c.(505-507)gafs		PAXIP1 associated glutamate-rich protein 1							145.0	104.0	118.0					16																	29828555		2197	4300	6497	SO:0001589	frameshift_variant	79447							g.chr16:29828555delT	BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"""glutamate-rich coactivator interacting with SRC1/NCOA1"", ""PTIP-associated 1 protein"", ""glutamate-rich coactivator associated with SRC1"""	612033	"""chromosome 16 open reading frame 53"""	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.507delT	16.37:g.29828555delT	ENSP00000326519:p.Asp169fs		OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	812	AC009133.20_ENST00000569039.1_RNA	p.D169fs	NM_024516.3	NP_078792.1					2	1069	+								A2ICR6	Frame_Shift_Del	DEL	ENST00000320330.6	37	c.507delT	CCDS10655.1																																																																																				0.567	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000473165.1	NM_024516		8	25						8	25	---	---	---	---
CLUH	23277	broad.mit.edu	37	17	2595665	2595673	+	In_Frame_Del	DEL	CCTTGAGGG	CCTTGAGGG	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:2595665_2595673delCCTTGAGGG	ENST00000570628.2	-	22	3530_3538	c.3425_3433delCCCTCAAGG	c.(3424-3435)gccctcaaggtg>gtg	p.ALK1142del	CLUH_ENST00000435359.1_In_Frame_Del_p.ALK1142del|CLUH_ENST00000538975.1_In_Frame_Del_p.ALK1142del			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	1142					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CTGAGGGCCACCTTGAGGGCCTTGGGCCC	0.699																																						ENST00000570628.1																			0											c.(3424-3435)gtg>g		clustered mitochondria (cluA/CLU1) homolog																																				SO:0001651	inframe_deletion	23277							g.chr17:2595665_2595673delCCTTGAGGG	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.3425_3433delCCCTCAAGG	17.37:g.2595665_2595673delCCTTGAGGG	ENSP00000458986:p.Ala1142_Lys1144del					CLUH_ENST00000538975.1_In_Frame_Del_p.ALKV1142del|CLUH_ENST00000435359.1_In_Frame_Del_p.ALKV1142del|CLUH_ENST00000575014.1_In_Frame_Del_p.ALKV1075del	p.ALKV1142del							22	3530_3538	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	In_Frame_Del	DEL	ENST00000570628.2	37	c.3425_3433delCCCTCAAGG	CCDS45572.1																																																																																				0.699	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		4	6						4	6	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56060673	56060674	+	Frame_Shift_Ins	INS	-	-	G	rs532205407		TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr17:56060673_56060674insG	ENST00000581208.1	-	2	154_155	c.114_115insC	c.(112-117)cctgatfs	p.D39fs	VEZF1_ENST00000584396.1_Frame_Shift_Ins_p.D30fs	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	39					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GGTTTCTGATCAGGGGGCTCCA	0.475																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(85-90)ccatcafs		vascular endothelial zinc finger 1																																				SO:0001589	frameshift_variant	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060673_56060674insG	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.114_115insC	17.37:g.56060673_56060674insG	ENSP00000462337:p.Asp39fs					VEZF1_ENST00000581208.1_Frame_Shift_Ins_p.S39fs	p.S30fs			Q14119	VEZF1_HUMAN			2	175_176	-			39						Frame_Shift_Ins	INS	ENST00000581208.1	37	c.87_88insC	CCDS32687.1																																																																																				0.475	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			50	124						50	124	---	---	---	---
C19orf43	79002	broad.mit.edu	37	19	12848341	12848342	+	5'Flank	INS	-	-	G	rs138730527	byFrequency	TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr19:12848341_12848342insG	ENST00000242784.4	-	0	0				ASNA1_ENST00000357332.3_Frame_Shift_Ins_p.W8fs|ASNA1_ENST00000591090.1_Frame_Shift_Ins_p.W8fs|C19orf43_ENST00000588213.1_5'Flank|C19orf43_ENST00000592273.1_5'Flank	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43									p.W8G(1)		endometrium(2)|large_intestine(2)	4						GGTGGCCGGGTGGGGGGTTGAG	0.569																																						ENST00000591090.1																			1	Substitution - Missense(1)	p.W8G(1)	lung(1)	endometrium(1)|lung(6)|ovary(3)	10						c.(22-24)gggfs		arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	Adenosine triphosphate(DB00171)																																			SO:0001631	upstream_gene_variant	439				response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding	g.chr19:12848341_12848342insG	AK027588	CCDS12279.1	19p13.2	2011-11-24			ENSG00000123144	ENSG00000123144			28424	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 18"""					12477932	Standard	NM_024038		Approved	MGC2803, fSAP18	uc002muu.3	Q9BQ61			19.37:g.12848347_12848347dupG	Exception_encountered					ASNA1_ENST00000357332.3_Frame_Shift_Ins_p.G8fs	p.G8fs			O43681	ASNA_HUMAN			2	124_125	+			8						Frame_Shift_Ins	INS	ENST00000242784.4	37	c.22_23insG	CCDS12279.1																																																																																				0.569	C19orf43-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450856.1	NM_024038		10	12						10	12	---	---	---	---
KRTAP6-1	337966	broad.mit.edu	37	21	31986109	31986110	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr21:31986109_31986110delCA	ENST00000329122.2	-	1	139_140	c.114_115delTG	c.(112-117)tgtggcfs	p.CG38fs	KRTAP20-1_ENST00000334664.2_5'Flank	NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	38						cytosol (GO:0005829)|intermediate filament (GO:0005882)				breast(2)|endometrium(1)|lung(7)	10						AAGCCACAGCCACAGCAGGAGC	0.589																																						ENST00000329122.2																			0				breast(2)|endometrium(1)|lung(7)	10						c.(112-117)tggcfs		keratin associated protein 6-1																																				SO:0001589	frameshift_variant	337966					cytosol|intermediate filament		g.chr21:31986109_31986110delCA	AP001708	CCDS13602.1	21q22.1	2006-03-13			ENSG00000184724	ENSG00000184724		"""Keratin associated proteins"""	18931	protein-coding gene	gene with protein product						12359730	Standard	NM_181602		Approved	KAP6.1, C21orf103	uc002yop.3	Q3LI64	OTTHUMG00000057788	ENST00000329122.2:c.114_115delTG	21.37:g.31986111_31986112delCA	ENSP00000332690:p.Cys38fs						p.CG40fs	NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN			1	139_140	-			40						Frame_Shift_Del	DEL	ENST00000329122.2	37	c.114_115delTG	CCDS13602.1																																																																																				0.589	KRTAP6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128240.2	NM_181602		82	124						82	124	---	---	---	---
FAM19A5	25817	broad.mit.edu	37	22	49103578	49103578	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chr22:49103578delG	ENST00000402357.1	+	3	445	c.312delG	c.(310-312)gagfs	p.E104fs	FAM19A5_ENST00000358295.5_Frame_Shift_Del_p.E97fs|FAM19A5_ENST00000473898.1_3'UTR|FAM19A5_ENST00000406880.1_Frame_Shift_Del_p.E25fs	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	104						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		CGTGTCTGGAGGGGGAAGGCT	0.562																																						ENST00000358295.5																			0				large_intestine(1)|lung(6)	7						c.(289-291)gafs		family with sequence similarity 19 (chemokine (C-C motif)-like), member A5							83.0	91.0	88.0					22																	49103578		2125	4239	6364	SO:0001589	frameshift_variant	25817					extracellular region|integral to membrane		g.chr22:49103578delG	AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.312delG	22.37:g.49103578delG	ENSP00000383933:p.Glu104fs					FAM19A5_ENST00000402357.1_Frame_Shift_Del_p.E104fs|FAM19A5_ENST00000473898.1_3'UTR|FAM19A5_ENST00000406880.1_Frame_Shift_Del_p.E25fs	p.E97fs	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)	3	466	+		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)	104					A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Frame_Shift_Del	DEL	ENST00000402357.1	37	c.291delG	CCDS46728.1																																																																																				0.562	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317504.1	NM_015381		30	66						30	66	---	---	---	---
MAP2K4P1	139201	broad.mit.edu	37	X	72745220	72745220	+	RNA	DEL	T	T	-			TCGA-KU-A66S-01A-21D-A30E-08	TCGA-KU-A66S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b56dba7-ed5b-418e-95fe-52b7ac6a00ed	a422a675-0e07-4b29-a8b8-5718c95f8c5d	g.chrX:72745220delT	ENST00000602584.1	-	0	1429					NR_029423.1				mitogen-activated protein kinase kinase 4 pseudogene 1																		GTCTTGGCAATAGAGTCCACA	0.423																																						ENST00000602584.1																			0																																																			139201							g.chrX:72745220delT			Xq13.2	2013-08-05			ENSG00000269904	ENSG00000269904			43837	pseudogene	pseudogene							Standard	NR_029423		Approved		uc022bza.1		OTTHUMG00000021833		X.37:g.72745220delT								NR_029423.1						0	1429	-									RNA	DEL	ENST00000602584.1	37																																																																																						0.423	MAP2K4P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467477.1			12	19						12	19	---	---	---	---
