#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
FLI1	2313	broad.mit.edu	37	11	128680406	128680406	+	Silent	SNP	C	C	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr11:128680406C>T	ENST00000527786.2	+	9	1371	c.882C>T	c.(880-882)agC>agT	p.S294S	FLI1_ENST00000344954.6_Silent_p.S261S|FLI1_ENST00000534087.2_Silent_p.S261S|FLI1_ENST00000525560.1_Silent_p.S101S|FLI1_ENST00000281428.8_Silent_p.S228S	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	294				S -> N (in Ref. 8; BAG61938). {ECO:0000305}.	blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TCTCCGACAGCGCCAACGCCA	0.627			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(781-783)agC>agT		Fli-1 proto-oncogene, ETS transcription factor							17.0	19.0	19.0					11																	128680406		2180	4292	6472	SO:0001819	synonymous_variant	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680406C>T	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.882C>T	11.37:g.128680406C>T						FLI1_ENST00000525560.1_Silent_p.S101S|FLI1_ENST00000534087.1_Silent_p.S261S|FLI1_ENST00000281428.8_Silent_p.S228S|FLI1_ENST00000429175.2_Silent_p.S294S	p.S261S			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	9	1171	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	294					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	c.783C>T	CCDS44768.1																																																																																				0.627	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		3	12	0	0	0	1	0	3	12				
POTEE	445582	broad.mit.edu	37	2	132021658	132021658	+	Missense_Mutation	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr2:132021658G>A	ENST00000356920.5	+	15	2724	c.2630G>A	c.(2629-2631)cGc>cAc	p.R877H	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	877	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GCCACCCTGCGCCTAGACCTG	0.612																																						ENST00000356920.5																			0											c.(2629-2631)cGc>cAc		POTE ankyrin domain family, member E							28.0	30.0	29.0					2																	132021658		2171	4240	6411	SO:0001583	missense	445582						ATP binding	g.chr2:132021658G>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2630G>A	2.37:g.132021658G>A	ENSP00000439189:p.Arg877His					PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	p.R877H	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			15	2724	+			877			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.2630G>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	11.54	1.670073	0.29693	.	.	ENSG00000188219	ENST00000356920	D	0.94966	-3.57	.	.	.	.	.	.	.	.	D	0.92067	0.7486	M	0.87900	2.915	0.80722	D	1	D	0.62365	0.991	B	0.36885	0.235	D	0.88086	0.2810	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	877	Q6S8J3	POTEE_HUMAN	H	877	ENSP00000439189:R877H	ENSP00000439189:R877H	R	+	2	0	AC131180.1	131738128	1.000000	0.71417	0.094000	0.20943	0.095000	0.18619	6.504000	0.73704	0.119000	0.18210	0.121000	0.15741	CGC		0.612	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		13	60	0	0	0	1	0	13	60				
C14orf159	80017	broad.mit.edu	37	14	91639708	91639708	+	Missense_Mutation	SNP	A	A	C			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr14:91639708A>C	ENST00000523771.1	+	6	1120	c.517A>C	c.(517-519)Aag>Cag	p.K173Q	C14orf159_ENST00000428926.2_Missense_Mutation_p.K173Q|C14orf159_ENST00000521077.2_Missense_Mutation_p.K178Q|C14orf159_ENST00000412671.2_Missense_Mutation_p.K178Q|C14orf159_ENST00000523816.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000525393.2_Missense_Mutation_p.K49Q|C14orf159_ENST00000518868.1_Missense_Mutation_p.K178Q|C14orf159_ENST00000256324.10_Missense_Mutation_p.K178Q|C14orf159_ENST00000522322.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000520328.1_Missense_Mutation_p.K173Q			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	173						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TCCCAAGGACAAGCTGGAAGG	0.567											OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518868.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(532-534)Aag>Cag		chromosome 14 open reading frame 159							59.0	53.0	55.0					14																	91639708		2203	4300	6503	SO:0001583	missense	80017					mitochondrion		g.chr14:91639708A>C	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.517A>C	14.37:g.91639708A>C	ENSP00000429655:p.Lys173Gln		OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1284	C14orf159_ENST00000520328.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000428926.2_Missense_Mutation_p.K173Q|C14orf159_ENST00000412671.2_Missense_Mutation_p.K178Q|C14orf159_ENST00000256324.10_Missense_Mutation_p.K178Q|C14orf159_ENST00000525393.2_Missense_Mutation_p.K49Q|C14orf159_ENST00000523816.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000523771.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000522322.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000521077.2_Missense_Mutation_p.K178Q	p.K178Q			Q7Z3D6	CN159_HUMAN		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)	9	1222	+		all_cancers(154;0.0191)|all_epithelial(191;0.241)	173					B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	37	c.532A>C	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	A	12.63	1.995561	0.35226	.	.	ENSG00000133943	ENST00000520328;ENST00000256324;ENST00000522170;ENST00000519950;ENST00000521077;ENST00000518868;ENST00000523816;ENST00000517518;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671	T;T;T;T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	4.55	0.675	0.17952	.	0.494236	0.21773	N	0.069328	T	0.29524	0.0736	L	0.27975	0.815	0.36398	D	0.862926	B;B;P;P;B;P	0.36412	0.232;0.295;0.552;0.496;0.194;0.496	B;B;B;B;B;B	0.42462	0.172;0.131;0.388;0.269;0.107;0.269	T	0.16748	-1.0392	10	0.32370	T	0.25	.	6.2781	0.20991	0.5771:0.3384:0.0845:0.0	.	173;49;178;173;178;178	Q7Z3D6;Q8NB88;B3KVU6;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	CN159_HUMAN;.;.;.;.;.	Q	173;178;178;178;178;178;173;178;49;173;173;173;178	ENSP00000429453:K173Q;ENSP00000256324:K178Q;ENSP00000430666:K178Q;ENSP00000428296:K178Q;ENSP00000430137:K178Q;ENSP00000428263:K178Q;ENSP00000428974:K173Q;ENSP00000428652:K178Q;ENSP00000435459:K49Q;ENSP00000404343:K173Q;ENSP00000427953:K173Q;ENSP00000429655:K173Q;ENSP00000404196:K178Q	ENSP00000256324:K178Q	K	+	1	0	C14orf159	90709461	0.989000	0.36119	0.203000	0.23512	0.003000	0.03518	0.490000	0.22403	0.018000	0.15052	-0.441000	0.05720	AAG		0.567	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		4	59	0	0	0	1	0	4	59				
LRRK2	120892	broad.mit.edu	37	12	40697958	40697958	+	Intron	SNP	A	A	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr12:40697958A>T	ENST00000298910.7	+	27	3835				LRRK2_ENST00000343742.2_Nonsense_Mutation_p.K1267*	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATTGCCACTTAAAAAATATAC	0.299																																						ENST00000343742.2																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(3799-3801)Aaa>Taa		leucine-rich repeat kinase 2							40.0	43.0	42.0					12																	40697958		2203	4298	6501	SO:0001627	intron_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40697958A>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3777+22A>T	12.37:g.40697958A>T						LRRK2_ENST00000298910.7_Intron	p.K1267*			Q5S007	LRRK2_HUMAN			27	3920	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	0					A6NJU2|Q6ZS50|Q8NCX9	Nonsense_Mutation	SNP	ENST00000298910.7	37	c.3799A>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	38	7.035591	0.98017	.	.	ENSG00000188906	ENST00000343742	.	.	.	4.98	-2.99	0.05497	.	.	.	.	.	.	.	.	.	.	.	0.25736	N	0.985217	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.4635	0.02401	0.2954:0.0794:0.2464:0.3788	.	.	.	.	X	1267	.	ENSP00000341930:K1267X	K	+	1	0	LRRK2	38984225	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-0.537000	0.06128	-0.727000	0.04888	-0.451000	0.05528	AAA		0.299	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		10	24	0	0	0	1	0	10	24				
APBB2	323	broad.mit.edu	37	4	40892409	40892409	+	Missense_Mutation	SNP	C	C	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr4:40892409C>T	ENST00000295974.8	-	12	2127	c.1498G>A	c.(1498-1500)Gtg>Atg	p.V500M	APBB2_ENST00000506352.1_Missense_Mutation_p.V479M|APBB2_ENST00000508593.1_Missense_Mutation_p.V501M|APBB2_ENST00000513140.1_Missense_Mutation_p.V479M	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	500	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						ACGCCCCACACGCGGATGCTG	0.637																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(1498-1500)Gtg>Atg		amyloid beta (A4) precursor protein-binding, family B, member 2							50.0	53.0	52.0					4																	40892409		2144	4262	6406	SO:0001583	missense	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:40892409C>T	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1498G>A	4.37:g.40892409C>T	ENSP00000295974:p.Val500Met					APBB2_ENST00000513140.1_Missense_Mutation_p.V479M|APBB2_ENST00000508593.1_Missense_Mutation_p.V501M|APBB2_ENST00000506352.1_Missense_Mutation_p.V479M	p.V500M	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			12	2127	-			500			PID 1.		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.1498G>A	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.513924|5.513924	0.96402|0.96402	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000513611|ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352;ENST00000512510	T|T;T;T;T;T	0.20463|0.20881	2.07|2.04;2.04;2.04;2.04;2.04	5.98|5.98	5.98|5.98	0.97165|0.97165	.|Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	.|0.060636	.|0.64402	.|D	.|0.000003	T|T	0.53061|0.53061	0.1773|0.1773	M|M	0.83118|0.83118	2.625|2.625	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.994;1.0;1.0;1.0	.|P;D;D;D	.|0.71184	.|0.872;0.972;0.952;0.972	T|T	0.55036|0.55036	-0.8203|-0.8203	7|10	0.87932|0.87932	D|D	0|0	-16.733|-16.733	20.452|20.452	0.99131|0.99131	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|462;501;479;500	.|B4DJ88;E9PG87;Q92870-2;Q92870	.|.;.;.;APBB2_HUMAN	H|M	469|500;499;479;501;479;12	ENSP00000427307:R469H|ENSP00000295974:V500M;ENSP00000426018:V479M;ENSP00000427211:V501M;ENSP00000421539:V479M;ENSP00000426429:V12M	ENSP00000427307:R469H|ENSP00000295974:V500M	R|V	-|-	2|1	0|0	APBB2|APBB2	40587166|40587166	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	7.406000|7.406000	0.80017|0.80017	2.838000|2.838000	0.97847|0.97847	0.591000|0.591000	0.81541|0.81541	CGT|GTG		0.637	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		17	47	0	0	0	1	0	17	47				
CLCN2	1181	broad.mit.edu	37	3	184071129	184071129	+	Missense_Mutation	SNP	C	C	T	rs115961753	byFrequency	TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr3:184071129C>T	ENST00000265593.4	-	17	2108	c.1937G>A	c.(1936-1938)cGg>cAg	p.R646Q	CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.R629Q|CLCN2_ENST00000457512.1_Missense_Mutation_p.R646Q|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.R602Q|CLCN2_ENST00000475279.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	646			R -> Q (reduces channel activity; dbSNP:rs115961753). {ECO:0000269|PubMed:17762171}.		cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CATGTGCTGCCGCCGGCGGGC	0.627													C|||	5	0.000998403	0.0038	0.0	5008	,	,		16816	0.0		0.0	False		,,,				2504	0.0					ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	GRCh37	CM074751	CLCN2	M	rs115961753	c.(1936-1938)cGg>cAg		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	24,4380	30.8+/-60.4	0,24,2178	43.0	47.0	45.0		1886,1805,1937,1937	5.6	1.0	3	dbSNP_133	45	0,8600		0,0,4300	yes	missense,missense,missense,missense	CLCN2	NM_001171087.1,NM_001171088.1,NM_001171089.1,NM_004366.4	43,43,43,43	0,24,6478	TT,TC,CC		0.0,0.545,0.1846	benign,benign,benign,benign	629/882,602/855,646/870,646/899	184071129	24,12980	2202	4300	6502	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184071129C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1937G>A	3.37:g.184071129C>T	ENSP00000265593:p.Arg646Gln					EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.R629Q|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000434054.2_Missense_Mutation_p.R602Q|CLCN2_ENST00000457512.1_Missense_Mutation_p.R646Q	p.R646Q	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		17	2108	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		646		R -> Q (reduces channel activity).			B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.1937G>A	CCDS3263.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	c	14.67	2.605724	0.46527	0.00545	0.0	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	5.62	5.62	0.85841	.	0.066323	0.64402	D	0.000010	T	0.78672	0.4320	M	0.61703	1.905	0.80722	D	1	B;B;B;B;B	0.26400	0.148;0.089;0.145;0.089;0.089	B;B;B;B;B	0.17722	0.011;0.019;0.018;0.011;0.007	T	0.76735	-0.2850	10	0.35671	T	0.21	-23.6705	9.3767	0.38288	0.2582:0.6088:0.133:0.0	.	602;646;629;646;602	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	Q	646;629;602;646	ENSP00000265593:R646Q;ENSP00000345056:R629Q;ENSP00000400425:R602Q;ENSP00000391928:R646Q	ENSP00000265593:R646Q	R	-	2	0	CLCN2	185553823	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.463000	0.53050	2.651000	0.90000	0.563000	0.77884	CGG		0.627	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			11	69	0	0	0	1	0	11	69				
LRRK2	120892	broad.mit.edu	37	12	40697959	40697959	+	Intron	SNP	A	A	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr12:40697959A>T	ENST00000298910.7	+	27	3835				LRRK2_ENST00000343742.2_Missense_Mutation_p.K1267I	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTGCCACTTAAAAAATATACT	0.294																																						ENST00000343742.2																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(3799-3801)aAa>aTa		leucine-rich repeat kinase 2							39.0	42.0	41.0					12																	40697959		2203	4298	6501	SO:0001627	intron_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40697959A>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3777+23A>T	12.37:g.40697959A>T						LRRK2_ENST00000298910.7_Intron	p.K1267I			Q5S007	LRRK2_HUMAN			27	3921	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	0					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.3800A>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	11.06	1.527588	0.27299	.	.	ENSG00000188906	ENST00000343742	T	0.18338	2.22	4.98	-6.28	0.02020	.	.	.	.	.	T	0.08891	0.0220	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36040	-0.9764	8	0.42905	T	0.14	.	4.6058	0.12376	0.3612:0.0:0.2687:0.3701	.	1267	E9PC85	.	I	1267	ENSP00000341930:K1267I	ENSP00000341930:K1267I	K	+	2	0	LRRK2	38984226	0.002000	0.14202	0.000000	0.03702	0.022000	0.10575	0.281000	0.18810	-0.906000	0.03866	-0.263000	0.10527	AAA		0.294	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		10	22	0	0	0	1	0	10	22				
ITGB4	3691	broad.mit.edu	37	17	73728052	73728052	+	Silent	SNP	C	C	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr17:73728052C>T	ENST00000200181.3	+	11	1562	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Silent_p.L459L|ITGB4_ENST00000450894.3_Silent_p.L459L|ITGB4_ENST00000449880.2_Silent_p.L459L|ITGB4_ENST00000339591.3_Silent_p.L459L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	459	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACCTGCGAGCTGGTACAACG	0.617																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(1375-1377)Ctg>Ttg		integrin, beta 4							72.0	60.0	64.0					17																	73728052		2203	4300	6503	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73728052C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1375C>T	17.37:g.73728052C>T						ITGB4_ENST00000450894.3_Silent_p.L459L|ITGB4_ENST00000579662.1_Silent_p.L459L|ITGB4_ENST00000449880.2_Silent_p.L459L|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Silent_p.L459L	p.L459L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		11	1562	+	all_cancers(13;1.5e-07)		459			Cysteine-rich tandem repeats.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.1375C>T	CCDS11727.1																																																																																				0.617	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			5	42	0	0	0	1	0	5	42				
PKHD1	5314	broad.mit.edu	37	6	51935833	51935833	+	Missense_Mutation	SNP	A	A	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr6:51935833A>G	ENST00000371117.3	-	9	913	c.638T>C	c.(637-639)cTg>cCg	p.L213P	PKHD1_ENST00000340994.4_Missense_Mutation_p.L213P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	213	IPT/TIG 2.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGGCACTGCAGAGTCCCAAG	0.413																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(637-639)cTg>cCg		polycystic kidney and hepatic disease 1 (autosomal recessive)							99.0	95.0	97.0					6																	51935833		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51935833A>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.638T>C	6.37:g.51935833A>G	ENSP00000360158:p.Leu213Pro					PKHD1_ENST00000340994.4_Missense_Mutation_p.L213P	p.L213P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			9	913	-	Lung NSC(77;0.0605)		213			IPT/TIG 2.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.638T>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.206153	0.39003	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89617	-2.35;-2.54	5.18	5.18	0.71444	.	0.384185	0.21689	N	0.070607	D	0.85609	0.5736	L	0.50333	1.59	0.46654	D	0.99914	P;B	0.36909	0.573;0.437	P;B	0.45071	0.468;0.143	D	0.87631	0.2516	10	0.66056	D	0.02	.	12.957	0.58434	1.0:0.0:0.0:0.0	.	213;213	P08F94-2;P08F94	.;PKHD1_HUMAN	P	213	ENSP00000360158:L213P;ENSP00000341097:L213P	ENSP00000341097:L213P	L	-	2	0	PKHD1	52043792	1.000000	0.71417	0.991000	0.47740	0.015000	0.08874	5.203000	0.65174	2.178000	0.69098	0.529000	0.55759	CTG		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		18	62	0	0	0	1	0	18	62				
GNAZ	2781	broad.mit.edu	37	22	23438412	23438412	+	Missense_Mutation	SNP	G	G	A	rs369848697		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr22:23438412G>A	ENST00000248996.4	+	2	1196	c.530G>A	c.(529-531)cGc>cAc	p.R177H	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	177					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)	p.R177P(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GACATCCTGCGCTCCCGGGAC	0.597																																						ENST00000248996.4																			1	Substitution - Missense(1)	p.R177P(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(529-531)cGc>cAc		guanine nucleotide binding protein (G protein), alpha z polypeptide		G	HIS/ARG,	1,4405	2.1+/-5.4	0,1,2202	113.0	97.0	103.0		530,	3.7	1.0	22		103	0,8600		0,0,4300	no	missense,intron	GNAZ,RTDR1	NM_002073.2,NM_014433.2	29,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,	177/356,	23438412	1,13005	2203	4300	6503	SO:0001583	missense	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438412G>A		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.530G>A	22.37:g.23438412G>A	ENSP00000248996:p.Arg177His					RTDR1_ENST00000216036.4_Intron	p.R177H	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	1196	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		177					B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	c.530G>A	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681459	0.88542	2.27E-4	0.0	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.88975	-2.45	4.7	3.68	0.42216	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	D	0.000000	D	0.87200	0.6118	M	0.72118	2.19	0.80722	D	1	B	0.17667	0.023	B	0.04013	0.001	D	0.84701	0.0728	10	0.59425	D	0.04	.	12.0629	0.53572	0.0842:0.0:0.9158:0.0	.	177	P19086	GNAZ_HUMAN	H	177;125	ENSP00000248996:R177H	ENSP00000248996:R177H	R	+	2	0	GNAZ	21768412	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.597000	0.98273	1.132000	0.42129	0.655000	0.94253	CGC		0.597	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		17	45	0	0	0	1	0	17	45				
FAT3	120114	broad.mit.edu	37	11	92624013	92624013	+	Missense_Mutation	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr11:92624013G>A	ENST00000298047.6	+	27	13521	c.13504G>A	c.(13504-13506)Gaa>Aaa	p.E4502K	FAT3_ENST00000525166.1_Missense_Mutation_p.E4352K|FAT3_ENST00000409404.2_Missense_Mutation_p.E4470K|FAT3_ENST00000533797.1_Missense_Mutation_p.E805K|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4502	Pro-rich.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTCCCCAACGAAACGGATTT	0.592										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(13504-13506)Gaa>Aaa		FAT atypical cadherin 3							40.0	42.0	41.0					11																	92624013		1965	4139	6104	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92624013G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.13504G>A	11.37:g.92624013G>A	ENSP00000298047:p.Glu4502Lys	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.E4352K|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000533797.1_Missense_Mutation_p.E805K|FAT3_ENST00000409404.2_Missense_Mutation_p.E4470K	p.E4502K			Q8TDW7	FAT3_HUMAN			27	13521	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4502			Pro-rich.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.13504G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.126139	0.94429	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.66	5.66	0.87406	.	.	.	.	.	T	0.44117	0.1278	M	0.61703	1.905	0.80722	D	1	D;D	0.57571	0.974;0.98	P;P	0.48738	0.458;0.588	T	0.39921	-0.9590	9	0.62326	D	0.03	.	19.756	0.96291	0.0:0.0:1.0:0.0	.	4470;4502	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	K	4502;4470;4352;805	ENSP00000298047:E4502K;ENSP00000387040:E4470K;ENSP00000432586:E4352K;ENSP00000436399:E805K	ENSP00000298047:E4502K	E	+	1	0	FAT3	92263661	1.000000	0.71417	0.953000	0.39169	0.929000	0.56500	4.722000	0.61958	2.665000	0.90641	0.655000	0.94253	GAA		0.592	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		9	22	0	0	0	1	0	9	22				
HMCN1	83872	broad.mit.edu	37	1	186024595	186024595	+	Silent	SNP	C	C	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:186024595C>T	ENST00000271588.4	+	45	7162	c.6933C>T	c.(6931-6933)tcC>tcT	p.S2311S	HMCN1_ENST00000367492.2_Silent_p.S2311S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2311	Ig-like C2-type 21.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAGTATCTCCTTGGAGTGTG	0.478																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(6931-6933)tcC>tcT		hemicentin 1							91.0	85.0	87.0					1																	186024595		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186024595C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6933C>T	1.37:g.186024595C>T						HMCN1_ENST00000367492.2_Silent_p.S2311S	p.S2311S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			45	7162	+			2311			Ig-like C2-type 21.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.6933C>T	CCDS30956.1																																																																																				0.478	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		10	37	0	0	0	1	0	10	37				
MED12L	116931	broad.mit.edu	37	3	151129183	151129183	+	Missense_Mutation	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr3:151129183G>A	ENST00000474524.1	+	39	5961	c.5923G>A	c.(5923-5925)Gca>Aca	p.A1975T	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1975	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTATCCGGCCGCACATTCCAA	0.572																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(5923-5925)Gca>Aca		mediator complex subunit 12-like							93.0	88.0	90.0					3																	151129183		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151129183G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5923G>A	3.37:g.151129183G>A	ENSP00000417235:p.Ala1975Thr					MED12L_ENST00000273432.4_Intron	p.A1975T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		39	5961	+			1975			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.5923G>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	3.420	-0.118393	0.06838	.	.	ENSG00000144893	ENST00000474524	T	0.56444	0.46	5.75	-2.08	0.07254	Mediator complex, subunit Med12, catenin-binding (1);	0.524287	0.22060	N	0.065195	T	0.16727	0.0402	N	0.02142	-0.665	0.28485	N	0.914745	B	0.13145	0.007	B	0.09377	0.004	T	0.29941	-0.9995	10	0.08599	T	0.76	-2.7763	5.7809	0.18306	0.4389:0.0:0.4404:0.1207	.	1975	Q86YW9	MD12L_HUMAN	T	1975	ENSP00000417235:A1975T	ENSP00000417235:A1975T	A	+	1	0	MED12L	152611873	0.000000	0.05858	0.008000	0.14137	0.644000	0.38419	-0.161000	0.10026	-0.135000	0.11495	-0.145000	0.13849	GCA		0.572	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		4	92	0	0	0	1	0	4	92				
NTM	50863	broad.mit.edu	37	11	132016375	132016375	+	Missense_Mutation	SNP	C	C	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr11:132016375C>T	ENST00000374786.1	+	2	846	c.367C>T	c.(367-369)Cca>Tca	p.P123S	NTM_ENST00000374791.3_Missense_Mutation_p.P123S|NTM_ENST00000427481.2_Missense_Mutation_p.P114S|NTM_ENST00000539799.1_Missense_Mutation_p.P123S|NTM_ENST00000374784.1_Missense_Mutation_p.P123S|NTM_ENST00000425719.2_Missense_Mutation_p.P123S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	123	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGACAACCACCCAAAGACCTC	0.572																																						ENST00000374786.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(367-369)Cca>Tca		neurotrimin							115.0	84.0	95.0					11																	132016375		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132016375C>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.367C>T	11.37:g.132016375C>T	ENSP00000363918:p.Pro123Ser					NTM_ENST00000539799.1_Missense_Mutation_p.P123S|NTM_ENST00000425719.2_Missense_Mutation_p.P123S|NTM_ENST00000427481.2_Missense_Mutation_p.P114S|NTM_ENST00000374784.1_Missense_Mutation_p.P123S|NTM_ENST00000374791.3_Missense_Mutation_p.P123S	p.P123S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			2	846	+			123			Ig-like C2-type 1.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.367C>T	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144548	0.77888	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.58	5.58	0.84498	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80717	0.4676	M	0.82132	2.575	0.80722	D	1	D;P;D;P;P;D	0.65815	0.995;0.87;0.958;0.942;0.849;0.984	D;D;P;D;P;P	0.67382	0.951;0.934;0.835;0.919;0.55;0.868	T	0.82372	-0.0490	10	0.66056	D	0.02	-13.4348	19.5604	0.95369	0.0:1.0:0.0:0.0	.	123;114;123;123;123;123	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	S	123;123;114;114;123;123;123	ENSP00000363923:P123S;ENSP00000437668:P123S;ENSP00000448104:P114S;ENSP00000416320:P114S;ENSP00000363918:P123S;ENSP00000396722:P123S;ENSP00000363916:P123S	ENSP00000363916:P123S	P	+	1	0	NTM	131521585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.024000	0.70857	2.631000	0.89168	0.655000	0.94253	CCA		0.572	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		11	35	0	0	0	1	0	11	35				
PSD4	23550	broad.mit.edu	37	2	113958986	113958986	+	Silent	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr2:113958986G>A	ENST00000245796.6	+	17	3360	c.3165G>A	c.(3163-3165)caG>caA	p.Q1055Q	PSD4_ENST00000441564.3_Silent_p.Q1026Q	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	1055					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCGCAATCAGCTGTGAAGCC	0.562																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(3163-3165)caG>caA		pleckstrin and Sec7 domain containing 4							84.0	74.0	78.0					2																	113958986		2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113958986G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.3165G>A	2.37:g.113958986G>A						PSD4_ENST00000441564.2_Silent_p.Q1026Q	p.Q1055Q	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			17	3360	+			1055					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.3165G>A	CCDS33276.1																																																																																				0.562	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		12	24	0	0	0	1	0	12	24				
NOVA2	4858	broad.mit.edu	37	19	46444191	46444191	+	Missense_Mutation	SNP	C	C	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr19:46444191C>T	ENST00000263257.5	-	4	603	c.409G>A	c.(409-411)Gtc>Atc	p.V137I		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	137	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		CTGTTGGGGACGATCAGCTTG	0.537																																						ENST00000263257.5																			0				endometrium(3)|large_intestine(5)|lung(13)	21						c.(409-411)Gtc>Atc		neuro-oncological ventral antigen 2							23.0	23.0	23.0					19																	46444191		2186	4275	6461	SO:0001583	missense	4858					nucleus	RNA binding	g.chr19:46444191C>T	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.409G>A	19.37:g.46444191C>T	ENSP00000263257:p.Val137Ile						p.V137I	NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	4	603	-		all_neural(266;0.113)|Ovarian(192;0.127)	137			KH 2.		O43267|Q9UEA1	Missense_Mutation	SNP	ENST00000263257.5	37	c.409G>A	CCDS12679.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995832	0.54147	.	.	ENSG00000104967	ENST00000263257	T	0.31769	1.48	3.82	3.82	0.43975	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.148584	0.44097	D	0.000490	T	0.42314	0.1197	L	0.36672	1.1	0.58432	D	0.999991	D	0.76494	0.999	D	0.74674	0.984	T	0.17198	-1.0377	10	0.34782	T	0.22	-15.1181	13.2376	0.59979	0.0:1.0:0.0:0.0	.	137	Q9UNW9	NOVA2_HUMAN	I	137	ENSP00000263257:V137I	ENSP00000263257:V137I	V	-	1	0	NOVA2	51136031	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.577000	0.82486	1.994000	0.58287	0.484000	0.47621	GTC		0.537	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		8	31	0	0	0	1	0	8	31				
AJAP1	55966	broad.mit.edu	37	1	4832547	4832547	+	Silent	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:4832547G>A	ENST00000378191.4	+	4	1506	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S	AJAP1_ENST00000378190.3_Silent_p.S375S	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	375	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CGCTGCACTCGACGACGGGGG	0.582																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(1123-1125)tcG>tcA		adherens junctions associated protein 1							54.0	52.0	53.0					1																	4832547		2203	4300	6503	SO:0001819	synonymous_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4832547G>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1125G>A	1.37:g.4832547G>A						AJAP1_ENST00000378190.3_Silent_p.S375S	p.S375S	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	4	1506	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	375			Targeting signals.		Q9Y229	Silent	SNP	ENST00000378191.4	37	c.1125G>A	CCDS54.1																																																																																				0.582	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		13	20	0	0	0	1	0	13	20				
CHD6	84181	broad.mit.edu	37	20	40127969	40127969	+	Missense_Mutation	SNP	A	A	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr20:40127969A>G	ENST00000373233.3	-	6	1058	c.881T>C	c.(880-882)aTt>aCt	p.I294T	CHD6_ENST00000373222.3_Missense_Mutation_p.I329T|CHD6_ENST00000309279.7_Missense_Mutation_p.I294T	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	294	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.|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)				GATCTTCTCAATGATGTTTGC	0.378																																						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.(880-882)aTt>aCt		chromodomain helicase DNA binding protein 6							73.0	60.0	65.0					20																	40127969		2203	4300	6503	SO:0001583	missense	0				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.chr20:40127969A>G	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.881T>C	20.37:g.40127969A>G	ENSP00000362330:p.Ile294Thr					CHD6_ENST00000309279.7_Missense_Mutation_p.I294T|CHD6_ENST00000373222.3_Missense_Mutation_p.I329T	p.I294T	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			6	1058	-		Myeloproliferative disorder(115;0.00425)	294			Chromo 1.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.881T>C	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.142306	0.77775	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222	T;T;T	0.74209	-0.82;-0.82;0.44	4.59	4.59	0.56863	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (1);	0.097937	0.45126	D	0.000394	D	0.84853	0.5564	M	0.74881	2.28	0.58432	D	0.999999	D;D	0.89917	1.0;0.973	D;D	0.87578	0.998;0.932	D	0.85445	0.1157	10	0.45353	T	0.12	-11.6552	14.4221	0.67190	1.0:0.0:0.0:0.0	.	329;294	Q8TD26-2;Q8TD26	.;CHD6_HUMAN	T	294;294;329	ENSP00000362330:I294T;ENSP00000308684:I294T;ENSP00000362319:I329T	ENSP00000308684:I294T	I	-	2	0	CHD6	39561383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.667000	0.91153	2.052000	0.61016	0.402000	0.26972	ATT		0.378	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			8	11	0	0	0	1	0	8	11				
ASB18	401036	broad.mit.edu	37	2	237172857	237172857	+	Silent	SNP	G	G	A	rs201818790		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr2:237172857G>A	ENST00000409749.3	-	1	131	c.132C>T	c.(130-132)gaC>gaT	p.D44D	AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	44					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		CTATCACAGCGTCCACAGGCG	0.517													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19851	0.0		0.0	False		,,,				2504	0.0					ENST00000409749.3																			0				large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6						c.(130-132)gaC>gaT		ankyrin repeat and SOCS box containing 18		G		5,4109		0,5,2052	113.0	109.0	110.0		132	1.9	0.7	2		110	0,8414		0,0,4207	no	coding-synonymous	ASB18	NM_212556.2		0,5,6259	AA,AG,GG		0.0,0.1215,0.0399		44/467	237172857	5,12523	2057	4207	6264	SO:0001819	synonymous_variant	401036				intracellular signal transduction			g.chr2:237172857G>A	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.132C>T	2.37:g.237172857G>A						AC079135.1_ENST00000415226.1_RNA	p.D44D	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)	1	131	-		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)	44					B6ZDL7	Silent	SNP	ENST00000409749.3	37	c.132C>T	CCDS46548.1																																																																																				0.517	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		4	18	0	0	0	1	0	4	18				
PCDHGA12	26025	broad.mit.edu	37	5	140811043	140811043	+	Silent	SNP	A	A	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr5:140811043A>G	ENST00000252085.3	+	1	859	c.717A>G	c.(715-717)gcA>gcG	p.A239A	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	239	Cadherin 2. {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)			ACGACAACGCACCAGCGTTTG	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.(715-717)gcA>gcG									54.0	55.0	55.0					5																	140811043		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140811043A>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.717A>G	5.37:g.140811043A>G						PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron	p.A239A	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	859	+								O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.717A>G	CCDS4260.1																																																																																				0.657	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		14	41	0	0	0	1	0	14	41				
XBP1	7494	broad.mit.edu	37	22	29195090	29195090	+	Silent	SNP	A	A	C			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr22:29195090A>C	ENST00000216037.6	-	2	351	c.279T>G	c.(277-279)gcT>gcG	p.A93A	CTA-292E10.6_ENST00000458080.1_RNA|XBP1_ENST00000405219.3_Silent_p.A43A|XBP1_ENST00000403532.3_Silent_p.A93A|CTA-292E10.6_ENST00000451486.1_RNA|XBP1_ENST00000344347.5_Silent_p.A93A|CTA-292E10.6_ENST00000418292.1_RNA|CTA-292E10.6_ENST00000585003.1_RNA	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	93	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial cell maturation involved in salivary gland development (GO:0060691)|exocrine pancreas development (GO:0031017)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|serotonin secretion, neurotransmission (GO:0060096)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						CACTCATTCGAGCCTTCTTTC	0.403																																						ENST00000216037.6																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						c.(277-279)gcT>gcG		X-box binding protein 1							120.0	107.0	111.0					22																	29195090		2203	4300	6503	SO:0001819	synonymous_variant	7494				immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:29195090A>C	M31627	CCDS13847.1	22q12.1	2013-01-10			ENSG00000100219	ENSG00000100219		"""basic leucine zipper proteins"""	12801	protein-coding gene	gene with protein product		194355		XBP2		1718857, 2196176	Standard	NM_001079539		Approved		uc003aec.3	P17861	OTTHUMG00000151094	ENST00000216037.6:c.279T>G	22.37:g.29195090A>C						XBP1_ENST00000403532.3_Silent_p.A93A|XBP1_ENST00000405219.3_Silent_p.A43A|XBP1_ENST00000344347.5_Silent_p.A93A	p.A93A	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN			2	351	-			93					Q8WYK6|Q969P1|Q96BD7	Silent	SNP	ENST00000216037.6	37	c.279T>G	CCDS13847.1																																																																																				0.403	XBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321274.1	NM_005080		15	49	0	0	0	1	0	15	49				
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					ENST00000424775.1																			0				endometrium(1)	1																																														0							g.chr22:42538870A>C																													22.37:g.42538870A>C						CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA								0	440	-									RNA	SNP	ENST00000428786.1	37			30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			3	26	0	0	0	1	0	3	26				
OBSCN	84033	broad.mit.edu	37	1	228444396	228444396	+	Missense_Mutation	SNP	G	G	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:228444396G>T	ENST00000422127.1	+	15	4398	c.4354G>T	c.(4354-4356)Gtg>Ttg	p.V1452L	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.V16L|OBSCN_ENST00000570156.2_Missense_Mutation_p.V1544L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1452L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1452	Ig-like 15.				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)				GCACAGGGAGGTGCAGGCCCA	0.617																																						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.(4630-4632)Gtg>Ttg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							44.0	46.0	45.0					1																	228444396		2053	4189	6242	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.chr1:228444396G>T	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.4354G>T	1.37:g.228444396G>T	ENSP00000409493:p.Val1452Leu					OBSCN_ENST00000422127.1_Missense_Mutation_p.V1452L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.V16L|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1452L	p.V1544L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			16	4704	+		Prostate(94;0.0405)	521			Ig-like 16.		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.4630G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	15.56	2.868316	0.51588	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.69561	-0.41;-0.41;-0.41	4.7	4.7	0.59300	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.181728	0.35179	N	0.003392	T	0.64940	0.2644	L	0.53617	1.68	0.80722	D	1	B;P	0.40638	0.011;0.725	B;B	0.41374	0.022;0.355	T	0.64110	-0.6484	10	0.26408	T	0.33	.	17.6128	0.88059	0.0:0.0:1.0:0.0	.	1452;1452	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	1452;1452;16	ENSP00000284548:V1452L;ENSP00000409493:V1452L;ENSP00000352613:V16L	ENSP00000284548:V1452L	V	+	1	0	OBSCN	226511019	1.000000	0.71417	0.964000	0.40570	0.105000	0.19272	4.030000	0.57260	2.157000	0.67596	0.491000	0.48974	GTG		0.617	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		15	45	1	0	1.15088e-07	1	1.15088e-07	15	45				
ATP5J	522	broad.mit.edu	37	21	27101953	27101953	+	Missense_Mutation	SNP	T	T	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr21:27101953T>G	ENST00000400093.3	-	2	844	c.153A>C	c.(151-153)aaA>aaC	p.K51N	ATP5J_ENST00000284971.3_Missense_Mutation_p.K51N|ATP5J_ENST00000400094.1_Missense_Mutation_p.K51N|ATP5J_ENST00000400099.1_Missense_Mutation_p.K51N|ATP5J_ENST00000457143.2_Missense_Mutation_p.K59N|ATP5J_ENST00000400090.3_Missense_Mutation_p.K51N|ATP5J_ENST00000400087.3_Missense_Mutation_p.K51N	NM_001003701.1|NM_001003703.1|NM_001685.4	NP_001003701.1|NP_001003703.1|NP_001676.2	P18859	ATP5J_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6	51					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						GTCGCTTAGATTTGTATTCTC	0.328																																					Colon(101;404 1513 9184 32221 46005)	ENST00000400093.3																			0				cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						c.(151-153)aaA>aaC		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6							44.0	41.0	42.0					21																	27101953		2203	4300	6503	SO:0001583	missense	522				ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity	g.chr21:27101953T>G	M37104	CCDS13574.1, CCDS46637.1	21q21.1	2012-10-12	2010-06-11		ENSG00000154723	ENSG00000154723		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	847	protein-coding gene	gene with protein product	"""coupling factor 6"""	603152	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6"""	ATP5A, ATP5, ATPM		1830479, 1825642	Standard	NM_001685		Approved	CF6	uc002ylt.3	P18859	OTTHUMG00000078442	ENST00000400093.3:c.153A>C	21.37:g.27101953T>G	ENSP00000382965:p.Lys51Asn					ATP5J_ENST00000400090.3_Missense_Mutation_p.K51N|ATP5J_ENST00000400087.3_Missense_Mutation_p.K51N|ATP5J_ENST00000457143.2_Missense_Mutation_p.K59N|ATP5J_ENST00000400094.1_Missense_Mutation_p.K51N|ATP5J_ENST00000400099.1_Missense_Mutation_p.K51N|ATP5J_ENST00000284971.3_Missense_Mutation_p.K51N	p.K51N	NM_001003701.1|NM_001003703.1|NM_001685.4	NP_001003701.1|NP_001003703.1|NP_001676.2	P18859	ATP5J_HUMAN			2	844	-			51					J3KQ83	Missense_Mutation	SNP	ENST00000400093.3	37	c.153A>C	CCDS13574.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.994113	0.54041	.	.	ENSG00000154723	ENST00000400099;ENST00000400094;ENST00000284971;ENST00000457143;ENST00000400090;ENST00000400087;ENST00000400093	.	.	.	4.98	3.81	0.43845	.	0.396133	0.31370	N	0.007762	T	0.30070	0.0753	L	0.31420	0.93	0.31465	N	0.669137	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.007	T	0.22521	-1.0214	9	0.19147	T	0.46	-0.9723	5.9436	0.19207	0.0:0.0865:0.268:0.6455	.	51;51	Q6IB54;P18859	.;ATP5J_HUMAN	N	51;51;51;59;51;51;51	.	ENSP00000284971:K51N	K	-	3	2	ATP5J	26023824	0.975000	0.34042	0.752000	0.31206	0.976000	0.68499	0.824000	0.27379	1.015000	0.39444	0.533000	0.62120	AAA		0.328	ATP5J-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171357.1	NM_001685		11	29	0	0	0	1	0	11	29				
CCDC88C	440193	broad.mit.edu	37	14	91787515	91787515	+	Silent	SNP	G	G	A	rs368539046		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr14:91787515G>A	ENST00000389857.6	-	13	1562	c.1476C>T	c.(1474-1476)agC>agT	p.S492S		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	492					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ACTTGAGGCCGCTCTCCTCCA	0.627																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(1474-1476)agC>agT		coiled-coil domain containing 88C		G		0,4056		0,0,2028	48.0	49.0	49.0		1476	5.4	1.0	14		49	1,8351		0,1,4175	no	coding-synonymous	CCDC88C	NM_001080414.3		0,1,6203	AA,AG,GG		0.012,0.0,0.0081		492/2029	91787515	1,12407	2028	4176	6204	SO:0001819	synonymous_variant	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91787515G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.1476C>T	14.37:g.91787515G>A							p.S492S	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			13	1562	-		all_cancers(154;0.0468)	492					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	c.1476C>T	CCDS45151.1																																																																																				0.627	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		6	18	0	0	0	1	0	6	18				
PRG2	5553	broad.mit.edu	37	11	57154994	57154994	+	Missense_Mutation	SNP	C	C	T	rs146228047		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr11:57154994C>T	ENST00000311862.5	-	6	696	c.623G>A	c.(622-624)cGt>cAt	p.R208H	PRG2_ENST00000525955.1_Missense_Mutation_p.R208H|PRG2_ENST00000533605.1_Missense_Mutation_p.R197H	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	208	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				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)	Sargramostim(DB00020)	GTGGGCTCGACGCCAGTGGCC	0.587																																						ENST00000311862.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10						c.(622-624)cGt>cAt		proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)							68.0	68.0	68.0					11																	57154994		2201	4296	6497	SO:0001583	missense	5553							g.chr11:57154994C>T	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.623G>A	11.37:g.57154994C>T	ENSP00000312134:p.Arg208His					PRG2_ENST00000525955.1_Missense_Mutation_p.R208H|PRG2_ENST00000533605.1_Missense_Mutation_p.R197H	p.R208H	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3				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)	6	696	-								A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	c.623G>A	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	C	5.057	0.196159	0.09599	.	.	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	T;T;T	0.18810	2.19;2.19;2.19	4.81	0.656	0.17844	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.681378	0.12165	N	0.493585	T	0.18964	0.0455	L	0.58428	1.81	0.09310	N	0.999999	B;B	0.25955	0.017;0.138	B;B	0.26864	0.015;0.074	T	0.28038	-1.0056	10	0.62326	D	0.03	.	4.1936	0.10433	0.0:0.5228:0.1692:0.308	.	197;208	A6XMW0;P13727	.;PRG2_HUMAN	H	208;197;208	ENSP00000312134:R208H;ENSP00000433231:R197H;ENSP00000433016:R208H	ENSP00000312134:R208H	R	-	2	0	PRG2	56911570	0.000000	0.05858	0.008000	0.14137	0.004000	0.04260	-0.638000	0.05452	-0.161000	0.10983	-0.143000	0.13931	CGT		0.587	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728		12	36	0	0	0	1	0	12	36				
RSBN1	54665	broad.mit.edu	37	1	114309020	114309020	+	Missense_Mutation	SNP	C	C	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:114309020C>T	ENST00000261441.5	-	7	2054	c.1991G>A	c.(1990-1992)cGt>cAt	p.R664H	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	664						nucleus (GO:0005634)		p.R664H(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTAGCATAACGAATGCCTTC	0.398																																						ENST00000261441.5																			1	Substitution - Missense(1)	p.R664H(1)	large_intestine(1)	breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(1990-1992)cGt>cAt		round spermatid basic protein 1							77.0	71.0	73.0					1																	114309020		2203	4299	6502	SO:0001583	missense	54665					nucleus		g.chr1:114309020C>T	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1991G>A	1.37:g.114309020C>T	ENSP00000261441:p.Arg664His					RSBN1_ENST00000369581.2_5'UTR	p.R664H	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	2054	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	664					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	c.1991G>A	CCDS862.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042533	0.75732	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.55657	0.1934	M	0.75615	2.305	0.80722	D	1	P	0.36125	0.538	B	0.32211	0.142	T	0.65393	-0.6179	9	0.87932	D	0	-8.6133	19.8965	0.96963	0.0:1.0:0.0:0.0	.	664	Q5VWQ0	RSBN1_HUMAN	H	664	.	ENSP00000261441:R664H	R	-	2	0	RSBN1	114110543	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.039000	0.70972	2.771000	0.95319	0.563000	0.77884	CGT		0.398	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		17	58	0	0	0	1	0	17	58				
ABCC10	89845	broad.mit.edu	37	6	43403887	43403887	+	Missense_Mutation	SNP	G	G	C			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr6:43403887G>C	ENST00000372530.4	+	6	1992	c.1777G>C	c.(1777-1779)Gag>Cag	p.E593Q	ABCC10_ENST00000244533.3_Missense_Mutation_p.E565Q	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	593					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TCCCCCTGCAGAGCCATCTAC	0.498																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1693-1695)Gag>Cag		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							117.0	119.0	119.0					6																	43403887		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43403887G>C	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1777G>C	6.37:g.43403887G>C	ENSP00000361608:p.Glu593Gln					ABCC10_ENST00000372530.4_Missense_Mutation_p.E593Q	p.E565Q	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		4	2052	+	all_lung(25;0.00536)		593					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.1693G>C	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	9.997	1.232514	0.22626	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.91631	-2.44;-2.88;-2.87	5.63	4.67	0.58626	.	0.420235	0.25052	N	0.033516	T	0.77955	0.4208	L	0.31294	0.92	0.23862	N	0.996633	B;B	0.24132	0.098;0.047	B;B	0.28553	0.091;0.024	T	0.65894	-0.6057	10	0.23302	T	0.38	-18.491	11.9865	0.53151	0.0914:0.0:0.9086:0.0	.	565;593	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Q	149;593;565	ENSP00000361593:E149Q;ENSP00000361608:E593Q;ENSP00000244533:E565Q	ENSP00000244533:E565Q	E	+	1	0	ABCC10	43511865	0.805000	0.28982	0.770000	0.31555	0.369000	0.29798	3.251000	0.51453	1.219000	0.43474	0.462000	0.41574	GAG		0.498	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		42	116	0	0	0	1	0	42	116				
PHF3	23469	broad.mit.edu	37	6	64422424	64422424	+	Missense_Mutation	SNP	A	A	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr6:64422424A>G	ENST00000262043.3	+	16	5280	c.4940A>G	c.(4939-4941)aAc>aGc	p.N1647S	PHF3_ENST00000393387.1_Missense_Mutation_p.N1647S			Q92576	PHF3_HUMAN	PHD finger protein 3	1647					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CAGTTTATCAACCTGAAAAGG	0.433																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(4939-4941)aAc>aGc		PHD finger protein 3							53.0	52.0	52.0					6																	64422424		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64422424A>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4940A>G	6.37:g.64422424A>G	ENSP00000262043:p.Asn1647Ser					PHF3_ENST00000393387.1_Missense_Mutation_p.N1647S	p.N1647S			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		16	5280	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1647					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.4940A>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.782233	0.31502	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.23754	1.89;1.89	6.07	6.07	0.98685	.	0.000000	0.43260	D	0.000593	T	0.06826	0.0174	N	0.24115	0.695	0.41272	D	0.986852	P	0.42692	0.787	B	0.33121	0.158	T	0.18808	-1.0325	9	.	.	.	-18.2361	10.8883	0.46981	0.9305:0.0:0.0695:0.0	.	1647	Q92576	PHF3_HUMAN	S	1647	ENSP00000262043:N1647S;ENSP00000377048:N1647S	.	N	+	2	0	PHF3	64480383	0.999000	0.42202	0.999000	0.59377	0.858000	0.48976	3.718000	0.54919	2.326000	0.78906	0.533000	0.62120	AAC		0.433	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			5	19	0	0	0	1	0	5	19				
LGI1	9211	broad.mit.edu	37	10	95557115	95557115	+	Missense_Mutation	SNP	T	T	C			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr10:95557115T>C	ENST00000371418.4	+	8	1489	c.1229T>C	c.(1228-1230)aTt>aCt	p.I410T	LGI1_ENST00000542308.1_Missense_Mutation_p.I362T|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	410					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)	p.I410T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				CGTCCTGTAATTTATCAGTGG	0.423																																						ENST00000371418.4																			1	Substitution - Missense(1)	p.I410T(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29						c.(1228-1230)aTt>aCt		leucine-rich, glioma inactivated 1							110.0	98.0	102.0					10																	95557115		2203	4300	6503	SO:0001583	missense	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95557115T>C	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1229T>C	10.37:g.95557115T>C	ENSP00000360472:p.Ile410Thr					LGI1_ENST00000542308.1_Missense_Mutation_p.I362T|LGI1_ENST00000371413.3_Intron	p.I410T	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN			8	1489	+		Colorectal(252;0.124)	410					A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	ENST00000371418.4	37	c.1229T>C	CCDS7431.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.296106	0.60086	.	.	ENSG00000108231	ENST00000542308;ENST00000371418	D;D	0.86497	-2.13;-2.13	5.17	5.17	0.71159	.	0.156350	0.56097	D	0.000028	D	0.90317	0.6971	L	0.59436	1.845	0.80722	D	1	P;D	0.59357	0.952;0.985	P;P	0.57009	0.523;0.811	D	0.91483	0.5206	10	0.87932	D	0	-11.7938	15.1922	0.73053	0.0:0.0:0.0:1.0	.	362;410	O95970-3;O95970	.;LGI1_HUMAN	T	362;410	ENSP00000440763:I362T;ENSP00000360472:I410T	ENSP00000360472:I410T	I	+	2	0	LGI1	95547105	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.868000	0.87116	2.168000	0.68352	0.533000	0.62120	ATT		0.423	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		22	60	0	0	0	1	0	22	60				
RANBP3	8498	broad.mit.edu	37	19	5923895	5923895	+	Missense_Mutation	SNP	C	C	G	rs202125680		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr19:5923895C>G	ENST00000340578.6	-	12	1084	c.1027G>C	c.(1027-1029)Gat>Cat	p.D343H	RANBP3_ENST00000591092.1_Missense_Mutation_p.D270H|RANBP3_ENST00000541471.1_Missense_Mutation_p.D215H|RANBP3_ENST00000439268.2_Missense_Mutation_p.D338H|RANBP3_ENST00000034275.8_Missense_Mutation_p.D275H	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	343					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CTGTTGGCATCTGAACTGACC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		18656	0.0		0.001	False		,,,				2504	0.0					ENST00000340578.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						c.(1027-1029)Gat>Cat		RAN binding protein 3		C	HIS/ASP,HIS/ASP,HIS/ASP	0,4274		0,0,2137	67.0	72.0	70.0		1012,823,1027	5.7	0.7	19		70	1,8511		0,1,4255	yes	missense,missense,missense	RANBP3	NM_003624.2,NM_007320.2,NM_007322.2	81,81,81	0,1,6392	GG,GC,CC		0.0117,0.0,0.0078	possibly-damaging,possibly-damaging,possibly-damaging	338/563,275/500,343/568	5923895	1,12785	2137	4256	6393	SO:0001583	missense	8498				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	g.chr19:5923895C>G	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.1027G>C	19.37:g.5923895C>G	ENSP00000341483:p.Asp343His					RANBP3_ENST00000034275.8_Missense_Mutation_p.D275H|RANBP3_ENST00000541471.1_Missense_Mutation_p.D215H|RANBP3_ENST00000439268.2_Missense_Mutation_p.D338H|RANBP3_ENST00000591092.1_Missense_Mutation_p.D270H	p.D343H	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN			12	1084	-			343					B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	c.1027G>C	CCDS42478.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.9	4.578487	0.86645	0.0	1.17E-4	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.34472	1.36;1.37;2.11;1.38	5.73	5.73	0.89815	.	0.263772	0.35772	N	0.002989	T	0.54679	0.1873	L	0.53249	1.67	0.58432	D	0.999999	D;D;D;D;D;D;D	0.71674	0.996;0.997;0.977;0.96;0.987;0.998;0.997	D;P;P;P;P;D;P	0.64144	0.914;0.838;0.778;0.778;0.889;0.922;0.838	T	0.52837	-0.8522	10	0.59425	D	0.04	-11.028	17.3865	0.87417	0.0:1.0:0.0:0.0	.	215;338;215;270;275;338;343	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	H	343;338;275;274;215	ENSP00000341483:D343H;ENSP00000404837:D338H;ENSP00000034275:D275H;ENSP00000445071:D215H	ENSP00000034275:D275H	D	-	1	0	RANBP3	5874895	1.000000	0.71417	0.701000	0.30321	0.892000	0.51952	6.864000	0.75494	2.709000	0.92574	0.563000	0.77884	GAT		0.557	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		8	69	0	0	0	1	0	8	69				
FAM83H	286077	broad.mit.edu	37	8	144810218	144810218	+	Silent	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr8:144810218G>A	ENST00000388913.3	-	5	1538	c.1413C>T	c.(1411-1413)ggC>ggT	p.G471G		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	471					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCTCGAACAGGCCTTGCGGGC	0.716																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(1411-1413)ggC>ggT		family with sequence similarity 83, member H							23.0	33.0	29.0					8																	144810218		2019	4144	6163	SO:0001819	synonymous_variant	286077				biomineral tissue development			g.chr8:144810218G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.1413C>T	8.37:g.144810218G>A							p.G471G	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	1538	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		471					A0JLS2|Q8N4W0	Silent	SNP	ENST00000388913.3	37	c.1413C>T	CCDS6410.2																																																																																				0.716	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		3	5	0	0	0	1	0	3	5				
KBTBD4	55709	broad.mit.edu	37	11	47599133	47599133	+	Missense_Mutation	SNP	C	C	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr11:47599133C>T	ENST00000526005.1	-	2	572	c.419G>A	c.(418-420)cGc>cAc	p.R140H	KBTBD4_ENST00000450908.1_5'Flank|NDUFS3_ENST00000533507.1_Intron|NDUFS3_ENST00000534208.1_5'Flank|KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H|KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H|KBTBD4_ENST00000533290.1_Missense_Mutation_p.R165H|NDUFS3_ENST00000528192.1_5'Flank|NDUFS3_ENST00000534716.2_5'Flank|NDUFS3_ENST00000263774.4_5'Flank|NDUFS3_ENST00000529276.1_5'Flank|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	140								p.R140H(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TTGCACTGTGCGGGCCAAAAA	0.517																																						ENST00000533290.1																			2	Substitution - Missense(2)	p.R140H(2)	large_intestine(1)|lung(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(493-495)cGc>cAc		kelch repeat and BTB (POZ) domain containing 4							174.0	172.0	173.0					11																	47599133		2201	4298	6499	SO:0001583	missense	55709							g.chr11:47599133C>T	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.419G>A	11.37:g.47599133C>T	ENSP00000433340:p.Arg140His					KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H|KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H|KBTBD4_ENST00000526005.1_Missense_Mutation_p.R140H	p.R165H			Q9NVX7	KBTB4_HUMAN			1	1208	-			140			BACK.		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	c.494G>A	CCDS7940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.836560|4.836560	0.91117|0.91117	.|.	.|.	ENSG00000123444|ENSG00000123444	ENST00000359900|ENST00000526005;ENST00000533290;ENST00000395288;ENST00000430070;ENST00000525720;ENST00000529499;ENST00000531067;ENST00000529946;ENST00000534239	.|T;T;T;T;T;T;T;T;T	.|0.73047	.|-0.64;-0.71;-0.64;-0.7;-0.57;-0.57;-0.57;-0.57;-0.57	5.4|5.4	5.4|5.4	0.78164|0.78164	.|BTB/POZ-like (1);BTB/POZ fold (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82591|0.82591	0.5070|0.5070	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;1.0	.|D;D;D	.|0.81914	.|0.991;0.995;0.995	D|D	0.83844|0.83844	0.0259|0.0259	6|10	0.02654|0.72032	T|D	1|0.01	-17.6736|-17.6736	19.1652|19.1652	0.93553|0.93553	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|156;140;165	.|Q9NVX7-2;Q9NVX7;B3KRH9	.|.;KBTB4_HUMAN;.	T|H	155|140;165;140;156;189;140;140;140;165	.|ENSP00000433340:R140H;ENSP00000436713:R165H;ENSP00000378703:R140H;ENSP00000415106:R156H;ENSP00000434477:R189H;ENSP00000433404:R140H;ENSP00000433653:R140H;ENSP00000435651:R140H;ENSP00000433124:R165H	ENSP00000352971:A155T|ENSP00000378703:R140H	A|R	-|-	1|2	0|0	KBTBD4|KBTBD4	47555709|47555709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.487000|7.487000	0.81328|0.81328	2.520000|2.520000	0.84964|0.84964	0.462000|0.462000	0.41574|0.41574	GCA|CGC		0.517	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		4	129	0	0	0	1	0	4	129				
LETMD1	25875	broad.mit.edu	37	12	51442945	51442945	+	Missense_Mutation	SNP	T	T	C			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr12:51442945T>C	ENST00000262055.4	+	2	290	c.251T>C	c.(250-252)gTc>gCc	p.V84A	LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000380123.2_Missense_Mutation_p.V84A|LETMD1_ENST00000547008.1_Missense_Mutation_p.V84A|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000550929.1_Missense_Mutation_p.V28A|LETMD1_ENST00000418425.2_Missense_Mutation_p.V84A	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	84	LETM1.|Required and sufficient for mitochondrial import.		V -> I (in dbSNP:rs12379). {ECO:0000269|PubMed:12879013, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.2}.			integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CGCTTCTATGTCCTGTACACA	0.398																																						ENST00000418425.2																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						c.(250-252)gTc>gCc		LETM1 domain containing 1							99.0	90.0	93.0					12																	51442945		2203	4300	6503	SO:0001583	missense	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51442945T>C	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.251T>C	12.37:g.51442945T>C	ENSP00000262055:p.Val84Ala					LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000262055.4_Missense_Mutation_p.V84A|LETMD1_ENST00000550929.1_Missense_Mutation_p.V28A|LETMD1_ENST00000547008.1_Missense_Mutation_p.V84A|LETMD1_ENST00000380123.2_Missense_Mutation_p.V84A	p.V84A	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN			2	270	+			84		V -> I (in dbSNP:rs12379).	LETM1.|Required and sufficient for mitochondrial import.		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	c.251T>C	CCDS8806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.903|9.903	1.207373|1.207373	0.22205|0.22205	.|.	.|.	ENSG00000050426|ENSG00000050426	ENST00000547256|ENST00000551477;ENST00000550929;ENST00000262055;ENST00000550442;ENST00000549340;ENST00000548209;ENST00000548251;ENST00000380123;ENST00000548401;ENST00000418425;ENST00000448283;ENST00000547008	.|T;T;T;T;T;T;T;T;T;T;T	.|0.45668	.|1.08;1.08;1.08;0.93;0.92;0.89;0.95;0.94;0.93;1.08;0.99	4.78|4.78	2.0|2.0	0.26442|0.26442	.|LETM1-like (1);	.|0.949792	.|0.08768	.|N	.|0.896721	T|T	0.20618|0.20618	0.0496|0.0496	N|N	0.10809|0.10809	0.05|0.05	0.25777|0.25777	N|N	0.98478|0.98478	.|B;B;B;B;B;B	.|0.09022	.|0.002;0.0;0.002;0.001;0.0;0.002	.|B;B;B;B;B;B	.|0.14023	.|0.006;0.002;0.007;0.004;0.002;0.01	T|T	0.29792|0.29792	-1.0000|-1.0000	5|10	.|0.08179	.|T	.|0.78	0.0|0.0	6.7697|6.7697	0.23587|0.23587	0.0:0.2576:0.0:0.7424|0.0:0.2576:0.0:0.7424	.|.	.|84;84;84;84;84;84	.|B7Z9A7;F8VVQ3;B3KXK7;F8W6J0;F8W1Z2;Q6P1Q0	.|.;.;.;.;.;LTMD1_HUMAN	P|A	29|51;28;84;84;84;84;84;84;91;84;84;84	.|ENSP00000446862:V51A;ENSP00000450163:V28A;ENSP00000262055:V84A;ENSP00000448110:V84A;ENSP00000449896:V84A;ENSP00000450275:V84A;ENSP00000447166:V84A;ENSP00000369466:V84A;ENSP00000450082:V91A;ENSP00000389903:V84A;ENSP00000447419:V84A	.|ENSP00000262055:V84A	S|V	+|+	1|2	0|0	LETMD1|LETMD1	49729212|49729212	0.123000|0.123000	0.22298|0.22298	0.973000|0.973000	0.42090|0.42090	0.984000|0.984000	0.73092|0.73092	2.117000|2.117000	0.41939|0.41939	0.277000|0.277000	0.22141|0.22141	0.533000|0.533000	0.62120|0.62120	TCC|GTC		0.398	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		12	48	0	0	0	1	0	12	48				
STAB2	55576	broad.mit.edu	37	12	104136330	104136330	+	Missense_Mutation	SNP	T	T	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr12:104136330T>G	ENST00000388887.2	+	56	6233	c.6029T>G	c.(6028-6030)cTg>cGg	p.L2010R		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTGATTGTCTGCGTATGTGG	0.557																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(6028-6030)cTg>cGg		stabilin 2							192.0	171.0	178.0					12																	104136330		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104136330T>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6029T>G	12.37:g.104136330T>G	ENSP00000373539:p.Leu2010Arg						p.L2010R	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			56	6233	+			2010			Laminin EGF-like 2.			Missense_Mutation	SNP	ENST00000388887.2	37	c.6029T>G	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	T	0.664	-0.804725	0.02819	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	T	0.33438	1.41	4.9	3.74	0.42951	EGF-like, laminin (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.356149	0.26331	N	0.024990	T	0.11580	0.0282	N	0.03268	-0.37	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10613	-1.0622	10	0.15066	T	0.55	.	6.7841	0.23664	0.7826:0.0:0.0769:0.1404	.	2010	Q8WWQ8	STAB2_HUMAN	R	2010;697	ENSP00000373539:L2010R	ENSP00000258495:L697R	L	+	2	0	STAB2	102660460	1.000000	0.71417	0.980000	0.43619	0.046000	0.14306	1.602000	0.36783	0.682000	0.31407	-0.624000	0.04008	CTG		0.557	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			42	115	0	0	0	1	0	42	115				
NPS	594857	broad.mit.edu	37	10	129350860	129350860	+	Missense_Mutation	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr10:129350860G>A	ENST00000398023.1	+	3	247	c.227G>A	c.(226-228)gGc>gAc	p.G76D		NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN	neuropeptide S	76					neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|visual learning (GO:0008542)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						AATGGAGTTGGCACAGGGATG	0.418																																						ENST00000398023.1																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						c.(226-228)gGc>gAc		neuropeptide S							163.0	160.0	161.0					10																	129350860		1861	4103	5964	SO:0001583	missense	594857				neuropeptide signaling pathway	extracellular region		g.chr10:129350860G>A	BC148465	CCDS41577.1	10q26.2	2013-02-26			ENSG00000214285	ENSG00000214285		"""Endogenous ligands"""	33940	protein-coding gene	gene with protein product	"""prepro-neuropeptide S"""	609513				18181564, 15312648	Standard	NM_001030013		Approved		uc001ljx.1	P0C0P6		ENST00000398023.1:c.227G>A	10.37:g.129350860G>A	ENSP00000381105:p.Gly76Asp						p.G76D	NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN			3	247	+			76						Missense_Mutation	SNP	ENST00000398023.1	37	c.227G>A	CCDS41577.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501980	0.85176	.	.	ENSG00000214285	ENST00000398023	T	0.69306	-0.39	5.59	5.59	0.84812	.	0.000000	0.31949	U	0.006805	D	0.83538	0.5276	.	.	.	0.48341	D	0.999633	D	0.76494	0.999	D	0.75484	0.986	D	0.85230	0.1032	9	0.87932	D	0	-10.1784	19.5844	0.95485	0.0:0.0:1.0:0.0	.	76	P0C0P6	NPS_HUMAN	D	76	ENSP00000381105:G76D	ENSP00000381105:G76D	G	+	2	0	NPS	129240850	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	6.210000	0.72176	2.638000	0.89438	0.585000	0.79938	GGC		0.418	NPS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001030013		39	110	0	0	0	1	0	39	110				
ZNF169	169841	broad.mit.edu	37	9	97062646	97062646	+	Missense_Mutation	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr9:97062646G>A	ENST00000395395.2	+	5	896	c.806G>A	c.(805-807)cGt>cAt	p.R269H	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	269					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(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GAGTGTGGGCGTCGGTTTAGC	0.567																																						ENST00000395395.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(805-807)cGt>cAt		zinc finger protein 169							73.0	77.0	76.0					9																	97062646		2203	4300	6503	SO:0001583	missense	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97062646G>A	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.806G>A	9.37:g.97062646G>A	ENSP00000378792:p.Arg269His					ZNF169_ENST00000340911.4_3'UTR	p.R269H	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN			5	896	+		Acute lymphoblastic leukemia(62;0.136)	269					A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	ENST00000395395.2	37	c.806G>A	CCDS6709.2	.	.	.	.	.	.	.	.	.	.	G	4.896	0.166524	0.09339	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	T	0.19669	2.13	2.73	-2.77	0.05877	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22322	0.0538	M	0.72479	2.2	0.24261	N	0.995287	P	0.42556	0.783	B	0.42245	0.381	T	0.13872	-1.0493	9	0.87932	D	0	.	5.4657	0.16642	0.6012:0.1697:0.2291:0.0	.	269	Q14929	ZN169_HUMAN	H	269;78	ENSP00000378792:R269H	ENSP00000340711:R78H	R	+	2	0	ZNF169	96102467	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.004000	0.12878	-0.739000	0.04809	-1.087000	0.02190	CGT		0.567	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		14	49	0	0	0	1	0	14	49				
C11orf24	53838	broad.mit.edu	37	11	68029279	68029279	+	Missense_Mutation	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr11:68029279G>A	ENST00000304271.6	-	4	1586	c.1184C>T	c.(1183-1185)gCc>gTc	p.A395V	C11orf24_ENST00000530166.1_5'Flank|C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	395						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						GTCTACCACGGCCTGGGTGAG	0.587																																					NSCLC(21;855 905 4198 36694)	ENST00000304271.6																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						c.(1183-1185)gCc>gTc		chromosome 11 open reading frame 24							101.0	92.0	95.0					11																	68029279		2200	4294	6494	SO:0001583	missense	53838					integral to membrane		g.chr11:68029279G>A	AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.1184C>T	11.37:g.68029279G>A	ENSP00000307264:p.Ala395Val					C11orf24_ENST00000533310.1_Intron	p.A395V	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN			4	1586	-			395					Q9H2K4	Missense_Mutation	SNP	ENST00000304271.6	37	c.1184C>T	CCDS8180.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486281	0.63962	.	.	ENSG00000171067	ENST00000304271	T	0.31769	1.48	4.89	1.63	0.23807	.	0.571965	0.13605	N	0.375588	T	0.19886	0.0478	L	0.43152	1.355	0.09310	N	0.999994	P	0.39311	0.667	B	0.32928	0.155	T	0.09975	-1.0650	10	0.36615	T	0.2	-3.8734	5.7176	0.17968	0.1947:0.0:0.5903:0.2151	.	395	Q96F05	CK024_HUMAN	V	395	ENSP00000307264:A395V	ENSP00000307264:A395V	A	-	2	0	C11orf24	67785855	0.014000	0.17966	0.001000	0.08648	0.010000	0.07245	1.693000	0.37742	0.475000	0.27415	0.484000	0.47621	GCC		0.587	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1	NM_022338		16	42	0	0	0	1	0	16	42				
PCDHA4	56144	broad.mit.edu	37	5	140187407	140187407	+	Missense_Mutation	SNP	T	T	C			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr5:140187407T>C	ENST00000530339.1	+	1	635	c.635T>C	c.(634-636)cTc>cCc	p.L212P	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.L212P|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.L212P|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	212	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTTAGTGCTCACAGCCACT	0.468																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(634-636)cTc>cCc									51.0	58.0	55.0					5																	140187407		2203	4300	6503	SO:0001583	missense	0							g.chr5:140187407T>C	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.635T>C	5.37:g.140187407T>C	ENSP00000435300:p.Leu212Pro					PCDHA4_ENST00000356878.4_Missense_Mutation_p.L212P|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.L212P|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.L212P	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	635	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.635T>C	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	t	12.79	2.043654	0.36085	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.42513	0.97;0.97;0.97	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	0.000000	0.36066	U	0.002815	T	0.79240	0.4412	H	0.99507	4.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.991;0.997;0.997	D	0.88082	0.2807	10	0.87932	D	0	.	13.8071	0.63238	0.0:0.0:0.0:1.0	.	212;212;212	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	P	212	ENSP00000423470:L212P;ENSP00000349344:L212P;ENSP00000435300:L212P	ENSP00000349344:L212P	L	+	2	0	PCDHA4	140167591	0.992000	0.36948	0.097000	0.21041	0.126000	0.20510	7.997000	0.88414	1.735000	0.51646	0.383000	0.25322	CTC		0.468	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		24	62	0	0	0	1	0	24	62				
RAET1E	135250	broad.mit.edu	37	6	150211114	150211114	+	Missense_Mutation	SNP	T	T	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr6:150211114T>A	ENST00000357183.4	-	2	385	c.253A>T	c.(253-255)Agc>Tgc	p.S85C	RAET1E_ENST00000529948.1_Missense_Mutation_p.S85C|RAET1E_ENST00000532335.1_Missense_Mutation_p.S85C|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E_ENST00000367363.3_Missense_Mutation_p.S49C|RAET1E-AS1_ENST00000605899.1_RNA	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	85	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CCCCAAGTGCTGGTGGCATAT	0.493																																						ENST00000532335.1																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10						c.(253-255)Agc>Tgc		retinoic acid early transcript 1E							107.0	98.0	101.0					6																	150211114		2203	4300	6503	SO:0001583	missense	135250				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150211114T>A	AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.253A>T	6.37:g.150211114T>A	ENSP00000349709:p.Ser85Cys					RP11-244K5.1_ENST00000605899.1_RNA|RAET1E_ENST00000367363.3_Missense_Mutation_p.S49C|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000529948.1_Missense_Mutation_p.S85C|RAET1E_ENST00000357183.4_Missense_Mutation_p.S85C	p.S85C	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	3	599	-		Ovarian(120;0.0907)	85			MHC class I alpha-1 like.		A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Missense_Mutation	SNP	ENST00000357183.4	37	c.253A>T	CCDS5221.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.679685	0.47886	.	.	ENSG00000164520	ENST00000532335;ENST00000357183;ENST00000367363;ENST00000529948	T;T;T;T	0.07114	3.22;3.22;3.22;3.22	3.73	1.37	0.22104	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.812302	0.10943	N	0.617051	T	0.05823	0.0152	N	0.22421	0.69	0.09310	N	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.75484	0.986;0.975;0.965	T	0.29941	-0.9995	10	0.72032	D	0.01	-7.3823	5.1791	0.15150	0.0:0.2422:0.0:0.7578	.	85;49;85	Q8TD07;Q8TD07-2;Q8TD07-3	N2DL4_HUMAN;.;.	C	85;85;49;85	ENSP00000437067:S85C;ENSP00000349709:S85C;ENSP00000356332:S49C;ENSP00000432366:S85C	ENSP00000349709:S85C	S	-	1	0	RAET1E	150252807	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.604000	0.05667	0.300000	0.22699	0.482000	0.46254	AGC		0.493	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165		6	47	0	0	0	1	0	6	47				
ADARB2	105	broad.mit.edu	37	10	1229245	1229245	+	Missense_Mutation	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr10:1229245G>A	ENST00000381312.1	-	10	2433	c.2108C>T	c.(2107-2109)gCg>gTg	p.A703V	ADARB2_ENST00000381310.3_Missense_Mutation_p.A212V|ADARB2_ENST00000381305.1_Missense_Mutation_p.A105V	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	703	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTAGGTGTGCGCCCCCAGCTT	0.592																																						ENST00000381312.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(2107-2109)gCg>gTg		adenosine deaminase, RNA-specific, B2 (non-functional)							63.0	59.0	60.0					10																	1229245		2203	4300	6503	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1229245G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.2108C>T	10.37:g.1229245G>A	ENSP00000370713:p.Ala703Val					ADARB2_ENST00000381305.1_Missense_Mutation_p.A105V|ADARB2_ENST00000381310.3_Missense_Mutation_p.A212V	p.A703V	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	10	2433	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	703			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.2108C>T	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049338	0.75846	.	.	ENSG00000185736	ENST00000381312;ENST00000381310;ENST00000381305	D;D;D	0.94862	-3.54;-3.54;-3.54	5.32	5.32	0.75619	Adenosine deaminase/editase (3);	0.104162	0.64402	D	0.000003	D	0.96488	0.8854	M	0.70787	2.145	0.58432	D	0.999998	D;D;D	0.89917	0.995;0.999;1.0	P;P;D	0.87578	0.559;0.622;0.998	D	0.95478	0.8558	10	0.34782	T	0.22	-24.9767	13.9181	0.63914	0.0:0.0:0.8479:0.1521	.	703;105;212	Q9NS39;Q5VW43;Q5VW42	RED2_HUMAN;.;.	V	703;212;105	ENSP00000370713:A703V;ENSP00000370711:A212V;ENSP00000370706:A105V	ENSP00000370706:A105V	A	-	2	0	ADARB2	1219245	1.000000	0.71417	0.961000	0.40146	0.987000	0.75469	6.563000	0.73964	2.502000	0.84385	0.561000	0.74099	GCG		0.592	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		12	26	0	0	0	1	0	12	26				
ARID2	196528	broad.mit.edu	37	12	46245717	46245717	+	Missense_Mutation	SNP	T	T	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr12:46245717T>G	ENST00000334344.6	+	15	3983	c.3811T>G	c.(3811-3813)Tgc>Ggc	p.C1271G	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.C1122G|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.C881G	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1271					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GAACCCGTCCTGCCGACGAGG	0.423			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3811-3813)Tgc>Ggc		AT rich interactive domain 2 (ARID, RFX-like)							52.0	51.0	52.0					12																	46245717		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245717T>G		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3811T>G	12.37:g.46245717T>G	ENSP00000335044:p.Cys1271Gly					ARID2_ENST00000444670.1_Missense_Mutation_p.C881G|ARID2_ENST00000422737.1_Missense_Mutation_p.C1122G|ARID2_ENST00000479608.1_3'UTR	p.C1271G	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3983	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1271					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.3811T>G	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.811657	0.32053	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.32988	1.43	6.17	6.17	0.99709	.	0.138871	0.64402	D	0.000002	T	0.35248	0.0925	L	0.27053	0.805	0.80722	D	1	P;D;P	0.56035	0.949;0.974;0.915	P;P;B	0.51415	0.465;0.669;0.217	T	0.11470	-1.0586	10	0.87932	D	0	-3.5913	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1271;881;1271	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	G	1271;388;388;1122;881	ENSP00000335044:C1271G	ENSP00000335044:C1271G	C	+	1	0	ARID2	44531984	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.321000	0.43805	2.371000	0.80710	0.533000	0.62120	TGC		0.423	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		15	21	0	0	0	1	0	15	21				
SLIT3	6586	broad.mit.edu	37	5	168093525	168093525	+	Silent	SNP	C	C	T	rs143047334	byFrequency	TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr5:168093525C>T	ENST00000519560.1	-	36	4925	c.4506G>A	c.(4504-4506)acG>acA	p.T1502T	SLIT3_ENST00000332966.8_Silent_p.T1509T|CTC-558O2.2_ENST00000520041.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1502	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGAGCCGTCCGTGCACTGGA	0.642													C|||	5	0.000998403	0.0008	0.0043	5008	,	,		14935	0.0		0.001	False		,,,				2504	0.0				Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(4504-4506)acG>acA		slit homolog 3 (Drosophila)		C		14,4392	21.2+/-45.6	0,14,2189	47.0	39.0	42.0		4506	-9.4	0.5	5	dbSNP_134	42	44,8556	28.5+/-78.6	1,42,4257	no	coding-synonymous	SLIT3	NM_003062.2		1,56,6446	TT,TC,CC		0.5116,0.3177,0.4459		1502/1524	168093525	58,12948	2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168093525C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4506G>A	5.37:g.168093525C>T						CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Silent_p.T1509T	p.T1502T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		36	4925	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1502			CTCK.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.4506G>A	CCDS4369.1																																																																																				0.642	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		3	10	0	0	0	1	0	3	10				
KCNS3	3790	broad.mit.edu	37	2	18112559	18112559	+	Missense_Mutation	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr2:18112559G>A	ENST00000403915.1	+	3	735	c.284G>A	c.(283-285)tGc>tAc	p.C95Y	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.C95Y	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	95					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAGGAGCTGTGCGTATTCTCA	0.473																																						ENST00000403915.1																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(283-285)tGc>tAc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3							119.0	121.0	120.0					2																	18112559		2203	4300	6503	SO:0001583	missense	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112559G>A	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.284G>A	2.37:g.18112559G>A	ENSP00000385968:p.Cys95Tyr					KCNS3_ENST00000304101.4_Missense_Mutation_p.C95Y|KCNS3_ENST00000465292.1_Intron	p.C95Y			Q9BQ31	KCNS3_HUMAN			3	735	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		95					D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	c.284G>A	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664240	0.47572	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	T;T	0.78126	-1.15;-1.15	5.7	5.7	0.88788	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.042955	0.85682	N	0.000000	D	0.90297	0.6965	M	0.87328	2.875	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.90962	0.4813	10	0.87932	D	0	.	20.1982	0.98246	0.0:0.0:1.0:0.0	.	95	Q9BQ31	KCNS3_HUMAN	Y	95	ENSP00000385968:C95Y;ENSP00000305824:C95Y	ENSP00000305824:C95Y	C	+	2	0	KCNS3	17976040	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	9.813000	0.99286	2.848000	0.98002	0.655000	0.94253	TGC		0.473	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		33	84	0	0	0	1	0	33	84				
ABCA13	154664	broad.mit.edu	37	7	48550725	48550725	+	Missense_Mutation	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr7:48550725G>A	ENST00000435803.1	+	51	13594	c.13570G>A	c.(13570-13572)Gcc>Acc	p.A4524T	ABCA13_ENST00000544596.1_Missense_Mutation_p.A254T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4524					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGTTATTGTCGCCTTCCAGTT	0.448																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(13570-13572)Gcc>Acc		ATP-binding cassette, sub-family A (ABC1), member 13							125.0	120.0	122.0					7																	48550725		1955	4141	6096	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48550725G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13570G>A	7.37:g.48550725G>A	ENSP00000411096:p.Ala4524Thr					ABCA13_ENST00000544596.1_Missense_Mutation_p.A254T	p.A4524T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			51	13594	+			4524					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.13570G>A	CCDS47584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.155338|4.155338	0.78114|0.78114	.|.	.|.	ENSG00000179869|ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596|ENST00000435451	D;D;D|.	0.88509|.	-2.39;-2.39;-2.39|.	5.17|5.17	4.28|4.28	0.50868|0.50868	.|.	0.000000|.	0.47852|.	D|.	0.000214|.	T|T	0.72748|0.72748	0.3499|0.3499	M|M	0.74881|0.74881	2.28|2.28	0.41380|0.41380	D|D	0.987546|0.987546	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.964;0.999;0.999|.	T|T	0.74109|0.74109	-0.3771|-0.3771	10|5	0.51188|.	T|.	0.08|.	.|.	13.6025|13.6025	0.62029|0.62029	0.0:0.155:0.845:0.0|0.0:0.155:0.845:0.0	.|.	254;2226;4524|.	F5H7B7;Q86UQ4-3;Q86UQ4|.	.;.;ABCAD_HUMAN|.	T|H	4524;297;254|44	ENSP00000411096:A4524T;ENSP00000391042:A297T;ENSP00000442634:A254T|.	ENSP00000391042:A297T|.	A|R	+|+	1|2	0|0	ABCA13|ABCA13	48521271|48521271	0.999000|0.999000	0.42202|0.42202	0.848000|0.848000	0.33437|0.33437	0.879000|0.879000	0.50718|0.50718	3.349000|3.349000	0.52217|0.52217	1.251000|1.251000	0.43983|0.43983	0.563000|0.563000	0.77884|0.77884	GCC|CGC		0.448	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		8	27	0	0	0	1	0	8	27				
NCOA6	23054	broad.mit.edu	37	20	33329897	33329897	+	Missense_Mutation	SNP	C	C	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr20:33329897C>T	ENST00000374796.2	-	12	6733	c.4163G>A	c.(4162-4164)gGg>gAg	p.G1388E	NCOA6_ENST00000359003.2_Missense_Mutation_p.G1388E			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1388					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						AGGAAAGCTCCCAGGTACAGG	0.507																																						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.(4162-4164)gGg>gAg		nuclear receptor coactivator 6							78.0	82.0	81.0					20																	33329897		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.chr20:33329897C>T	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.4163G>A	20.37:g.33329897C>T	ENSP00000363929:p.Gly1388Glu					NCOA6_ENST00000359003.2_Missense_Mutation_p.G1388E	p.G1388E			Q14686	NCOA6_HUMAN			12	6733	-			1388					A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.4163G>A	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509056	0.44660	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.27557	1.66;1.66	5.33	5.33	0.75918	.	0.166949	0.41823	D	0.000808	T	0.21590	0.0520	N	0.19112	0.55	0.34062	D	0.65745	P	0.45902	0.868	P	0.44860	0.462	T	0.03887	-1.0995	10	0.02654	T	1	-5.1884	15.8349	0.78791	0.0:0.8549:0.1451:0.0	.	1388	Q14686	NCOA6_HUMAN	E	1388	ENSP00000363929:G1388E;ENSP00000351894:G1388E	ENSP00000351894:G1388E	G	-	2	0	NCOA6	32793558	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	3.915000	0.56409	2.781000	0.95711	0.591000	0.81541	GGG		0.507	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		14	40	0	0	0	1	0	14	40				
ZNF418	147686	broad.mit.edu	37	19	58437682	58437682	+	Missense_Mutation	SNP	C	C	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr19:58437682C>T	ENST00000396147.1	-	4	2158	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	ZNF418_ENST00000599852.1_Missense_Mutation_p.E538K|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.E623K|ZNF418_ENST00000425570.3_Missense_Mutation_p.E644K	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	623					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TTCCCACATTCGCTGCACTCG	0.433																																						ENST00000396147.1																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31						c.(1867-1869)Gaa>Aaa		zinc finger protein 418							116.0	119.0	118.0					19																	58437682		2201	4299	6500	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58437682C>T	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1867G>A	19.37:g.58437682C>T	ENSP00000379451:p.Glu623Lys					ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.E538K|ZNF418_ENST00000595830.1_Missense_Mutation_p.E623K|ZNF418_ENST00000425570.3_Missense_Mutation_p.E644K	p.E623K	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	2158	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	623					Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.1867G>A	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	15.37	2.814781	0.50527	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.07327	3.2;3.2	2.25	-0.726	0.11170	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06645	0.0170	L	0.28115	0.83	0.09310	N	1	D	0.61080	0.989	B	0.42771	0.397	T	0.40117	-0.9580	9	0.51188	T	0.08	.	10.2806	0.43537	0.0:0.622:0.3779:0.0	.	623	Q8TF45	ZN418_HUMAN	K	623;644;589	ENSP00000379451:E623K;ENSP00000407039:E644K	ENSP00000379451:E623K	E	-	1	0	ZNF418	63129494	0.000000	0.05858	0.001000	0.08648	0.286000	0.27126	-1.409000	0.02483	0.227000	0.20999	0.305000	0.20034	GAA		0.433	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		25	80	0	0	0	1	0	25	80				
TNRC18	84629	broad.mit.edu	37	7	5348869	5348869	+	Missense_Mutation	SNP	C	C	T	rs367586045		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr7:5348869C>T	ENST00000430969.1	-	28	8867	c.8519G>A	c.(8518-8520)cGc>cAc	p.R2840H	TNRC18_ENST00000399537.4_Missense_Mutation_p.R2840H	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2840	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCTCTGGATGCGGCCGATGTA	0.632																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(8518-8520)cGc>cAc		trinucleotide repeat containing 18		C	HIS/ARG	0,4010		0,0,2005	41.0	43.0	43.0		8519	4.6	1.0	7		43	1,8341		0,1,4170	no	missense	TNRC18	NM_001080495.2	29	0,1,6175	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	2840/2969	5348869	1,12351	2005	4171	6176	SO:0001583	missense	84629						DNA binding	g.chr7:5348869C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8519G>A	7.37:g.5348869C>T	ENSP00000395538:p.Arg2840His					TNRC18_ENST00000430969.1_Missense_Mutation_p.R2840H	p.R2840H			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	28	8867	-		Ovarian(82;0.142)	2840			BAH.		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.8519G>A	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	18.60	3.658729	0.67586	0.0	1.2E-4	ENSG00000182095	ENST00000399537;ENST00000430969	D;D	0.87729	-2.29;-2.29	5.43	4.55	0.56014	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	D	0.87609	0.6220	L	0.39898	1.24	0.41835	D	0.990099	D	0.61697	0.99	P	0.54629	0.757	D	0.87932	0.2711	9	0.51188	T	0.08	.	14.0679	0.64841	0.0:0.927:0.0:0.073	.	2840	O15417	TNC18_HUMAN	H	2840	ENSP00000382452:R2840H;ENSP00000395538:R2840H	ENSP00000382452:R2840H	R	-	2	0	TNRC18	5315395	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.358000	0.66064	1.287000	0.44583	0.561000	0.74099	CGC		0.632	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				3	28	0	0	0	1	0	3	28				
CD14	929	broad.mit.edu	37	5	140012472	140012472	+	Missense_Mutation	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr5:140012472G>A	ENST00000302014.6	-	2	726	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	CD14_ENST00000401743.2_Missense_Mutation_p.R33C	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	33					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|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 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)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACGCAGCGGAAATCTTCA	0.612																																						ENST00000302014.6																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(97-99)Cgc>Tgc		CD14 molecule							54.0	53.0	53.0					5																	140012472		2203	4300	6503	SO:0001583	missense	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140012472G>A		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"""CD molecules"""	1628	protein-coding gene	gene with protein product		158120	"""CD14 antigen"""			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.97C>T	5.37:g.140012472G>A	ENSP00000304236:p.Arg33Cys					CD14_ENST00000401743.2_Missense_Mutation_p.R33C	p.R33C	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	726	-			33					Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	ENST00000302014.6	37	c.97C>T	CCDS4232.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705119	0.68615	.	.	ENSG00000170458	ENST00000302014;ENST00000401743;ENST00000498971;ENST00000519715;ENST00000512545	D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96	5.78	4.83	0.62350	.	0.429939	0.19444	N	0.114109	D	0.94165	0.8128	L	0.55990	1.75	0.09310	N	1	D	0.89917	1.0	D	0.69654	0.965	D	0.87852	0.2658	10	0.72032	D	0.01	-10.0416	12.7986	0.57573	0.0:0.0:0.8259:0.1741	.	33	P08571	CD14_HUMAN	C	33	ENSP00000304236:R33C;ENSP00000385519:R33C;ENSP00000426543:R33C;ENSP00000430884:R33C;ENSP00000425447:R33C	ENSP00000304236:R33C	R	-	1	0	CD14	139992656	0.216000	0.23585	0.338000	0.25549	0.020000	0.10135	1.044000	0.30329	2.735000	0.93741	0.655000	0.94253	CGC		0.612	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		3	18	0	0	0	1	0	3	18				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000350908.4_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		3	54	0	0	0	1	0	3	54				
INADL	10207	broad.mit.edu	37	1	62257043	62257043	+	Silent	SNP	T	T	C	rs200802733		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:62257043T>C	ENST00000371158.2	+	9	1206	c.1092T>C	c.(1090-1092)taT>taC	p.Y364Y	INADL_ENST00000316485.6_Silent_p.Y364Y	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	364					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTGAAACTTATAATGTTGAGC	0.323																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(1090-1092)taT>taC		InaD-like (Drosophila)							97.0	102.0	100.0					1																	62257043		2203	4300	6503	SO:0001819	synonymous_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62257043T>C	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1092T>C	1.37:g.62257043T>C						INADL_ENST00000316485.6_Silent_p.Y364Y	p.Y364Y	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			9	1206	+			364					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	c.1092T>C	CCDS617.2																																																																																				0.323	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		19	34	0	0	0	1	0	19	34				
CELF3	11189	broad.mit.edu	37	1	151679766	151679766	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:151679766delG	ENST00000290583.4	-	8	1570	c.777delC	c.(775-777)accfs	p.T259fs	CELF3_ENST00000392706.3_Frame_Shift_Del_p.T76fs|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Intron|RP11-98D18.1_ENST00000457548.1_RNA	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	259					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						GAGGGGTGCTGGTTCCTGGGG	0.652																																						ENST00000290583.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						c.(775-777)acfs		CUGBP, Elav-like family member 3							27.0	23.0	24.0					1																	151679766		2186	4291	6477	SO:0001589	frameshift_variant	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151679766delG	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.777delC	1.37:g.151679766delG	ENSP00000290583:p.Thr259fs					CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Intron|CELF3_ENST00000392706.3_Frame_Shift_Del_p.T76fs	p.T259fs	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN			8	1570	-			259					B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Frame_Shift_Del	DEL	ENST00000290583.4	37	c.777delC	CCDS1002.1																																																																																				0.652	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		2	4						2	4	---	---	---	---
CFHR1	3078	broad.mit.edu	37	1	196794779	196794779	+	Missense_Mutation	SNP	G	G	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:196794779G>T	ENST00000320493.5	+	2	319	c.231G>T	c.(229-231)tgG>tgT	p.W77C	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Missense_Mutation_p.W77C	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	77	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AAGAAGGATGGTCACCAACAC	0.388																																						ENST00000320493.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						c.(229-231)tgG>tgT		complement factor H-related 1							72.0	72.0	72.0					1																	196794779		1873	4113	5986	SO:0001583	missense	3078				complement activation	extracellular space		g.chr1:196794779G>T	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.231G>T	1.37:g.196794779G>T	ENSP00000314299:p.Trp77Cys					CFHR1_ENST00000367424.3_Missense_Mutation_p.W77C|CFHR1_ENST00000498248.1_3'UTR|CFHR2_ENST00000367421.3_Intron	p.W77C	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN			2	319	+			77			Sushi 1.		A8K465|Q3B774|Q9UJ17	Missense_Mutation	SNP	ENST00000320493.5	37	c.231G>T	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	.	22.9	4.355367	0.82243	.	.	ENSG00000244414	ENST00000367424;ENST00000320493	D;D	0.88509	-2.39;-2.39	4.18	4.18	0.49190	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	D	0.94637	0.8271	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95228	0.8340	9	0.87932	D	0	.	12.0231	0.53354	0.0:0.0:1.0:0.0	.	77	Q03591	FHR1_HUMAN	C	77	ENSP00000356394:W77C;ENSP00000314299:W77C	ENSP00000314299:W77C	W	+	3	0	CFHR1	195061402	0.997000	0.39634	0.956000	0.39512	0.990000	0.78478	2.134000	0.42102	1.882000	0.54519	0.430000	0.28490	TGG		0.388	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		13	50	1	0	2.5808e-16	1	2.62454e-16	13	50				
AC027612.3	0	broad.mit.edu	37	2	91899626	91899626	+	RNA	DEL	A	A	-	rs566726868	byFrequency	TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr2:91899626delA	ENST00000436174.1	-	0	168																											CCAGAGGCTCAAAAAAAAAAA	0.289													|||unknown(HR)	1834	0.366214	0.3752	0.3977	5008	,	,		31479	0.3988		0.335	False		,,,				2504	0.3303					ENST00000436174.1																			0																																																			0							g.chr2:91899626delA																													2.37:g.91899626delA														0	168	-									RNA	DEL	ENST00000436174.1	37																																																																																						0.289	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			2	4						2	4	---	---	---	---
SLC17A5	26503	broad.mit.edu	37	6	74351528	74351537	+	Frame_Shift_Del	DEL	CATTTTCCCC	CATTTTCCCC	-	rs80338795		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr6:74351528_74351537delCATTTTCCCC	ENST00000355773.5	-	3	670_679	c.402_411delGGGGAAAATG	c.(400-411)ggggggaaaatgfs	p.GGKM134fs	SLC17A5_ENST00000393019.3_Frame_Shift_Del_p.GGKM134fs|SLC17A5_ENST00000481996.1_5'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	134					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATCCTAGCAGCATTTTCCCCCCTATTTTGC	0.471																																						ENST00000355773.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	GRCh37	CM003476	SLC17A5	M	rs80338795	c.(400-411)ggfs		solute carrier family 17 (acidic sugar transporter), member 5																																				SO:0001589	frameshift_variant	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74351528_74351537delCATTTTCCCC	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.402_411delGGGGAAAATG	6.37:g.74351528_74351537delCATTTTCCCC	ENSP00000348019:p.Gly134fs					SLC17A5_ENST00000393019.3_Frame_Shift_Del_p.GGKM134fs|SLC17A5_ENST00000481996.1_5'UTR	p.GGKM134fs	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN			3	670_679	-			134					Q5SZ76|Q8NBR5|Q9UGH0	Frame_Shift_Del	DEL	ENST00000355773.5	37	c.402_411delGGGGAAAATG	CCDS4981.1																																																																																				0.471	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			29	121						29	121	---	---	---	---
