#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
DOCK10	55619	broad.mit.edu	37	2	225652092	225652092	+	Missense_Mutation	SNP	T	T	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr2:225652092T>A	ENST00000258390.7	-	49	5508	c.5441A>T	c.(5440-5442)tAc>tTc	p.Y1814F	DOCK10_ENST00000409592.3_Missense_Mutation_p.Y1808F	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1814	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CACACACATGTATAGCTGCTC	0.423																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(5422-5424)tAc>tTc		dedicator of cytokinesis 10							202.0	198.0	200.0					2																	225652092		1986	4176	6162	SO:0001583	missense	55619						GTP binding	g.chr2:225652092T>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5441A>T	2.37:g.225652092T>A	ENSP00000258390:p.Tyr1814Phe					DOCK10_ENST00000258390.7_Missense_Mutation_p.Y1814F	p.Y1808F			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	49	5536	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1814			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5423A>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.400220	0.62177	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.19806	2.12;2.12	5.63	5.63	0.86233	.	0.364265	0.30695	N	0.009074	T	0.16128	0.0388	N	0.14661	0.345	0.29410	N	0.861307	B;B;B;B	0.34103	0.437;0.064;0.437;0.215	B;B;B;B	0.36335	0.124;0.038;0.222;0.018	T	0.12243	-1.0555	10	0.87932	D	0	.	15.0202	0.71624	0.0:0.0:0.0:1.0	.	1814;635;1808;476	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	F	1808;1814;319	ENSP00000386694:Y1808F;ENSP00000258390:Y1814F	ENSP00000258390:Y1814F	Y	-	2	0	DOCK10	225360336	1.000000	0.71417	0.902000	0.35471	0.953000	0.61014	4.732000	0.62029	2.144000	0.66660	0.528000	0.53228	TAC		0.423	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			57	145	0	0	0	1	0	57	145				
SLC41A1	254428	broad.mit.edu	37	1	205768182	205768182	+	Silent	SNP	G	G	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:205768182G>T	ENST00000367137.3	-	5	1614	c.600C>A	c.(598-600)gtC>gtA	p.V200V	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	200					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TCCAGCCAAAGACGACGGCTG	0.607																																						ENST00000367137.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(598-600)gtC>gtA		solute carrier family 41 (magnesium transporter), member 1							65.0	63.0	64.0					1																	205768182		2203	4300	6503	SO:0001819	synonymous_variant	254428					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr1:205768182G>T	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.600C>A	1.37:g.205768182G>T						SLC41A1_ENST00000468057.1_5'UTR	p.V200V	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		5	1614	-	Breast(84;0.0799)		200					Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Silent	SNP	ENST00000367137.3	37	c.600C>A	CCDS30988.1																																																																																				0.607	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			19	55	1	0	4.35082e-09	1	4.64366e-09	19	55				
ZEB1	6935	broad.mit.edu	37	10	31809478	31809478	+	Missense_Mutation	SNP	A	A	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:31809478A>G	ENST00000320985.10	+	7	1325	c.1215A>G	c.(1213-1215)atA>atG	p.I405M	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.I385M|ZEB1_ENST00000446923.2_Missense_Mutation_p.I389M|ZEB1_ENST00000542815.3_Missense_Mutation_p.I338M|ZEB1_ENST00000361642.5_Missense_Mutation_p.I406M			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	405					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGTCTCCCATAAGTATCAATT	0.438																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(1165-1167)atA>atG		zinc finger E-box binding homeobox 1							87.0	83.0	84.0					10																	31809478		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809478A>G	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1215A>G	10.37:g.31809478A>G	ENSP00000319248:p.Ile405Met					ZEB1_ENST00000320985.10_Missense_Mutation_p.I405M|ZEB1_ENST00000542815.3_Missense_Mutation_p.I338M|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.I385M|ZEB1_ENST00000361642.5_Missense_Mutation_p.I406M	p.I389M	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			7	1558	+		Prostate(175;0.0156)	405					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.1167A>G	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.517521	0.44763	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.15487	2.75;2.43;2.48;2.42;2.47	5.61	0.337	0.15966	.	0.000000	0.64402	D	0.000001	T	0.34048	0.0884	M	0.70275	2.135	0.50313	D	0.999865	D;D;D;D;D;D;D;D	0.89917	0.972;1.0;0.999;0.999;0.998;0.989;0.998;0.999	P;D;D;D;D;P;D;D	0.87578	0.891;0.998;0.994;0.971;0.947;0.78;0.947;0.971	T	0.02860	-1.1101	10	0.72032	D	0.01	-17.4353	7.4398	0.27176	0.5259:0.2514:0.0:0.2227	.	338;405;389;405;405;385;406;405	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	M	187;405;406;405;338;405;385;264;296;389	ENSP00000444282:I187M;ENSP00000354487:I406M;ENSP00000444891:I338M;ENSP00000319248:I405M;ENSP00000391612:I389M	ENSP00000319248:I405M	I	+	3	3	ZEB1	31849484	0.997000	0.39634	0.997000	0.53966	0.998000	0.95712	0.641000	0.24720	-0.116000	0.11893	0.533000	0.62120	ATA		0.438	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		20	53	0	0	0	1	0	20	53				
CCDC108	255101	broad.mit.edu	37	2	219888790	219888790	+	Missense_Mutation	SNP	A	A	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr2:219888790A>T	ENST00000341552.5	-	15	2625	c.2542T>A	c.(2542-2544)Tgg>Agg	p.W848R	CCDC108_ENST00000441968.1_Missense_Mutation_p.W848R|CCDC108_ENST00000453220.1_Missense_Mutation_p.W848R	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	848						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTGCTTCCAGGAGCTGCCC	0.602																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2542-2544)Tgg>Agg		coiled-coil domain containing 108							71.0	79.0	76.0					2																	219888790		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219888790A>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2542T>A	2.37:g.219888790A>T	ENSP00000340776:p.Trp848Arg					CCDC108_ENST00000453220.1_Missense_Mutation_p.W848R|CCDC108_ENST00000441968.1_Missense_Mutation_p.W848R	p.W848R	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	2625	-		Renal(207;0.0915)	848					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.2542T>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	A	15.37	2.812260	0.50527	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.40225	1.04;1.04;1.04	5.84	5.84	0.93424	.	0.000000	0.42682	D	0.000668	T	0.34571	0.0902	M	0.63428	1.95	0.80722	D	1	B	0.30709	0.291	B	0.25884	0.064	T	0.22695	-1.0209	10	0.23302	T	0.38	-13.6547	6.4591	0.21946	0.7882:0.0:0.0723:0.1395	.	848	Q6ZU64	CC108_HUMAN	R	848	ENSP00000340776:W848R;ENSP00000413377:W848R;ENSP00000409117:W848R	ENSP00000340776:W848R	W	-	1	0	CCDC108	219597034	0.234000	0.23783	0.973000	0.42090	0.845000	0.48019	1.390000	0.34464	2.235000	0.73313	0.459000	0.35465	TGG		0.602	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		27	82	0	0	0	1	0	27	82				
ZNF470	388566	broad.mit.edu	37	19	57089490	57089490	+	Missense_Mutation	SNP	T	T	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr19:57089490T>G	ENST00000330619.8	+	6	2379	c.1693T>G	c.(1693-1695)Tac>Gac	p.Y565D	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.Y565D	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGAGAAGCCTTACGAATGTAT	0.443																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1693-1695)Tac>Gac		zinc finger protein 470							100.0	88.0	92.0					19																	57089490		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089490T>G	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1693T>G	19.37:g.57089490T>G	ENSP00000333223:p.Tyr565Asp					ZNF470_ENST00000391709.3_Missense_Mutation_p.Y565D|ZNF470_ENST00000601902.1_Intron	p.Y565D	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	2379	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	565					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1693T>G	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.921065	0.52653	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.25579	1.79;1.79	4.37	3.32	0.38043	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.60418	0.2267	H	0.97131	3.945	0.09310	N	0.999998	D	0.89917	1.0	D	0.78314	0.991	T	0.54330	-0.8310	9	0.87932	D	0	.	6.9542	0.24562	0.0:0.1871:0.0:0.8129	.	565	Q6ECI4	ZN470_HUMAN	D	565	ENSP00000375590:Y565D;ENSP00000333223:Y565D	ENSP00000333223:Y565D	Y	+	1	0	ZNF470	61781302	0.544000	0.26441	0.999000	0.59377	0.982000	0.71751	3.718000	0.54919	1.843000	0.53566	0.528000	0.53228	TAC		0.443	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		17	53	0	0	0	1	0	17	53				
GPR107	57720	broad.mit.edu	37	9	132854651	132854651	+	Missense_Mutation	SNP	G	G	A	rs200754726		TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr9:132854651G>A	ENST00000372406.1	+	9	1361	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	GPR107_ENST00000372410.3_Missense_Mutation_p.R285Q|GPR107_ENST00000347136.6_Missense_Mutation_p.R285Q	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	285						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CATATCCTTCGAAAACGACGG	0.423																																						ENST00000372406.1																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(853-855)cGa>cAa		G protein-coupled receptor 107							136.0	133.0	134.0					9																	132854651		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr9:132854651G>A	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.854G>A	9.37:g.132854651G>A	ENSP00000361483:p.Arg285Gln					GPR107_ENST00000372410.3_Missense_Mutation_p.R285Q|GPR107_ENST00000347136.6_Missense_Mutation_p.R285Q	p.R285Q	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN			9	1361	+		Ovarian(14;0.000531)	285					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Missense_Mutation	SNP	ENST00000372406.1	37	c.854G>A	CCDS48041.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822716	0.90873	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410;ENST00000455412	T;T;T	0.25749	1.78;1.83;1.8	5.56	5.56	0.83823	.	0.101618	0.41097	D	0.000949	T	0.42131	0.1189	M	0.68317	2.08	0.48901	D	0.999722	D;D;D	0.59767	0.963;0.986;0.963	P;P;P	0.53689	0.505;0.732;0.505	T	0.09378	-1.0677	10	0.29301	T	0.29	-5.1077	18.183	0.89785	0.0:0.0:1.0:0.0	.	285;285;285	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	Q	285	ENSP00000361483:R285Q;ENSP00000336988:R285Q;ENSP00000361487:R285Q	ENSP00000336988:R285Q	R	+	2	0	GPR107	131894472	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.326000	0.72905	2.638000	0.89438	0.603000	0.83216	CGA		0.423	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			5	84	0	0	0	1	0	5	84				
DIAPH1	1729	broad.mit.edu	37	5	140963116	140963116	+	Missense_Mutation	SNP	G	G	A	rs534491046		TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:140963116G>A	ENST00000398557.4	-	5	609	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	DIAPH1_ENST00000518047.1_Missense_Mutation_p.R148W|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R103W|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R157W|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R148W|DIAPH1_ENST00000253811.6_Missense_Mutation_p.R157W|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R148W|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R148W	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	157	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCATATCCCGCAAGCCTGAC	0.512																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(469-471)Cgg>Tgg		diaphanous-related formin 1							108.0	111.0	110.0					5																	140963116		2014	4200	6214	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140963116G>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.469C>T	5.37:g.140963116G>A	ENSP00000381565:p.Arg157Trp					DIAPH1_ENST00000518047.1_Missense_Mutation_p.R148W|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R157W|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R148W|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R148W|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R157W|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R148W|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R103W	p.R157W			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	609	-			157			GBD/FH3.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.469C>T	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834334	0.71373	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000524301	D;D;D;D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	5.56	3.57	0.40892	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.171760	0.32836	N	0.005598	D	0.88916	0.6567	L	0.44542	1.39	0.35503	D	0.799987	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.965	D	0.91005	0.4845	10	0.66056	D	0.02	.	9.3401	0.38074	0.0:0.1161:0.5492:0.3347	.	148;157	E9PEZ2;O60610	.;DIAP1_HUMAN	W	157;103;148;148;148;157;157;148;103	ENSP00000373706:R157W;ENSP00000429282:R103W;ENSP00000381570:R148W;ENSP00000373709:R148W;ENSP00000381572:R148W;ENSP00000381565:R157W;ENSP00000253811:R157W;ENSP00000428268:R148W;ENSP00000430587:R103W	ENSP00000253811:R157W	R	-	1	2	DIAPH1	140943300	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.957000	0.29215	1.340000	0.45581	0.460000	0.39030	CGG		0.512	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		4	131	0	0	0	1	0	4	131				
NCF2	4688	broad.mit.edu	37	1	183539961	183539961	+	Missense_Mutation	SNP	A	A	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:183539961A>T	ENST00000367535.3	-	6	874	c.623T>A	c.(622-624)gTg>gAg	p.V208E	NCF2_ENST00000413720.1_Missense_Mutation_p.V163E|NCF2_ENST00000418089.1_Missense_Mutation_p.V127E|NCF2_ENST00000367536.1_Missense_Mutation_p.V208E	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	208					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TTGATCCACCACAGATGCCAC	0.532																																						ENST00000413720.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(487-489)gTg>gAg		neutrophil cytosolic factor 2							166.0	137.0	147.0					1																	183539961		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183539961A>T	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.623T>A	1.37:g.183539961A>T	ENSP00000356505:p.Val208Glu					NCF2_ENST00000418089.1_Missense_Mutation_p.V127E|NCF2_ENST00000367536.1_Missense_Mutation_p.V208E|NCF2_ENST00000367535.3_Missense_Mutation_p.V208E	p.V163E	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN			5	762	-			208					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.488T>A	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.321292	0.60634	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.67865	-0.2;-0.28;-0.29;-0.2	5.19	5.19	0.71726	.	0.113510	0.64402	D	0.000014	T	0.81791	0.4897	M	0.79475	2.455	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.85130	0.93;0.997;0.915	D	0.84438	0.0581	10	0.72032	D	0.01	-10.5822	15.0845	0.72142	1.0:0.0:0.0:0.0	.	127;163;208	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	E	208;236;163;127;208	ENSP00000356506:V208E;ENSP00000399294:V163E;ENSP00000407217:V127E;ENSP00000356505:V208E	ENSP00000356505:V208E	V	-	2	0	NCF2	181806584	1.000000	0.71417	0.996000	0.52242	0.250000	0.25880	7.875000	0.87205	1.954000	0.56735	0.533000	0.62120	GTG		0.532	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		21	41	0	0	0	1	0	21	41				
PLCH1	23007	broad.mit.edu	37	3	155200544	155200544	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr3:155200544T>C	ENST00000340059.7	-	23	3294	c.3295A>G	c.(3295-3297)Aca>Gca	p.T1099A	PLCH1_ENST00000460012.1_Missense_Mutation_p.T1061A|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.T1061A|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.T1061A	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1099					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGATCTTGTGTGGGGTTAACT	0.478																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(3181-3183)Aca>Gca		phospholipase C, eta 1							159.0	160.0	159.0					3																	155200544		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200544T>C	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3295A>G	3.37:g.155200544T>C	ENSP00000345988:p.Thr1099Ala					PLCH1_ENST00000340059.7_Missense_Mutation_p.T1099A|PLCH1_ENST00000334686.6_Missense_Mutation_p.T1061A|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.T1061A	p.T1061A			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	3538	-			1099					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.3181A>G	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	7.528	0.658054	0.14645	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.57	-6.41	0.01938	.	2.093560	0.01521	N	0.018371	T	0.09598	0.0236	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19386	-1.0307	10	0.17369	T	0.5	.	0.7503	0.00989	0.2697:0.1278:0.2503:0.3522	.	1061;1099	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	A	1061;1099;1061;1061	ENSP00000417502:T1061A;ENSP00000345988:T1099A;ENSP00000335469:T1061A;ENSP00000412977:T1061A	ENSP00000335469:T1061A	T	-	1	0	PLCH1	156683238	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-2.304000	0.01134	-0.505000	0.06568	0.482000	0.46254	ACA		0.478	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		46	134	0	0	0	1	0	46	134				
SMIM11	54065	broad.mit.edu	37	21	35757886	35757886	+	Silent	SNP	A	A	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr21:35757886A>G	ENST00000399295.2	+	3	493	c.123A>G	c.(121-123)aaA>aaG	p.K41K	SMIM11_ENST00000481710.1_3'UTR|SMIM11_ENST00000399299.1_Intron|SMIM11_ENST00000399292.3_Silent_p.K41K			P58511	SIM11_HUMAN	small integral membrane protein 11	41						integral component of membrane (GO:0016021)											TGGAGGCAAAACAACAAAAAC	0.443																																						ENST00000399295.2																			0											c.(121-123)aaA>aaG		small integral membrane protein 11							61.0	57.0	59.0					21																	35757886		2203	4300	6503	SO:0001819	synonymous_variant	54065							g.chr21:35757886A>G	BC015596	CCDS33550.1	21q22.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000205670	ENSG00000205670			1293	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 51"", ""family with sequence similarity 165, member B"""	C21orf51, FAM165B			Standard	NM_058182		Approved		uc002ytu.4	P58511	OTTHUMG00000086193	ENST00000399295.2:c.123A>G	21.37:g.35757886A>G						SMIM11_ENST00000399292.3_Silent_p.K41K|SMIM11_ENST00000481710.1_3'UTR|SMIM11_ENST00000399299.1_Intron	p.K41K							3	493	+									Silent	SNP	ENST00000399295.2	37	c.123A>G	CCDS33550.1																																																																																				0.443	SMIM11-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194078.1	NM_058182		11	46	0	0	0	1	0	11	46				
NID2	22795	broad.mit.edu	37	14	52520476	52520476	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr14:52520476T>C	ENST00000216286.5	-	5	1249	c.1250A>G	c.(1249-1251)aAc>aGc	p.N417S	NID2_ENST00000541773.1_Missense_Mutation_p.N364S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	417					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GATGCTTCCGTTTTCGGGGTA	0.557																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(1249-1251)aAc>aGc		nidogen 2 (osteonidogen)							96.0	89.0	91.0					14																	52520476		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52520476T>C	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1250A>G	14.37:g.52520476T>C	ENSP00000216286:p.Asn417Ser					NID2_ENST00000541773.1_Missense_Mutation_p.N364S	p.N417S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			5	1249	-	Breast(41;0.0639)|all_epithelial(31;0.123)		417					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.1250A>G	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	T	1.042	-0.678569	0.03378	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.83075	-1.68;-1.57	3.75	-1.95	0.07548	.	1.425290	0.04775	N	0.428736	T	0.68274	0.2983	N	0.19112	0.55	0.09310	N	1	B;B;B	0.18863	0.026;0.031;0.004	B;B;B	0.17098	0.017;0.014;0.004	T	0.49523	-0.8931	10	0.24483	T	0.36	.	4.6987	0.12816	0.0:0.2825:0.1575:0.56	.	364;419;417	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	S	417;364;419	ENSP00000216286:N417S;ENSP00000443730:N364S	ENSP00000216286:N417S	N	-	2	0	NID2	51590226	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.099000	0.15210	-0.614000	0.05687	0.460000	0.39030	AAC		0.557	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			31	83	0	0	0	1	0	31	83				
MYO18B	84700	broad.mit.edu	37	22	26286730	26286730	+	Missense_Mutation	SNP	A	A	T	rs188687136		TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr22:26286730A>T	ENST00000407587.2	+	26	4494	c.4325A>T	c.(4324-4326)gAc>gTc	p.D1442V	CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000608507.1_RNA|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000609820.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|MYO18B_ENST00000335473.7_Missense_Mutation_p.D1441V|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000609809.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000597614.2_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.D1441V|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000608921.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1441	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGATTGCTGACTTGACCTCT	0.582																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(4321-4323)gAc>gTc		myosin XVIIIB							67.0	70.0	69.0					22																	26286730		2147	4247	6394	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26286730A>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4325A>T	22.37:g.26286730A>T	ENSP00000386096:p.Asp1442Val					CTA-125H2.2_ENST00000600211.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.D1441V|CTA-125H2.2_ENST00000453457.2_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.D1442V	p.D1441V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			26	4572	+			1441			Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.4322A>T		.	.	.	.	.	.	.	.	.	.	A	16.34	3.095040	0.56075	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87966	-2.3;-2.3;-2.32	5.64	5.64	0.86602	.	0.193972	0.44285	D	0.000479	D	0.90352	0.6981	M	0.69248	2.105	0.58432	D	0.999991	P;P;D;P	0.55172	0.892;0.895;0.97;0.936	P;P;P;P	0.54664	0.663;0.462;0.758;0.663	D	0.91386	0.5131	10	0.87932	D	0	.	13.8147	0.63283	1.0:0.0:0.0:0.0	.	954;1441;1442;1441	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	V	1441;1441;1442	ENSP00000441229:D1441V;ENSP00000334563:D1441V;ENSP00000386096:D1442V	ENSP00000334563:D1441V	D	+	2	0	MYO18B	24616730	0.997000	0.39634	0.990000	0.47175	0.213000	0.24496	3.468000	0.53086	2.151000	0.67156	0.477000	0.44152	GAC		0.582	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		6	20	0	0	0	1	0	6	20				
KCNK5	8645	broad.mit.edu	37	6	39163706	39163706	+	Missense_Mutation	SNP	T	T	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:39163706T>A	ENST00000359534.3	-	2	582	c.244A>T	c.(244-246)Aac>Tac	p.N82Y		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	82					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CAGTTCCAGTTGTTGAAGGTC	0.502																																						ENST00000359534.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						c.(244-246)Aac>Tac		potassium channel, subfamily K, member 5							175.0	150.0	159.0					6																	39163706		2203	4300	6503	SO:0001583	missense	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39163706T>A	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.244A>T	6.37:g.39163706T>A	ENSP00000352527:p.Asn82Tyr						p.N82Y	NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN			2	582	-			82					B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	c.244A>T	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.236512	0.58886	.	.	ENSG00000164626	ENST00000359534	T	0.23348	1.91	5.47	5.47	0.80525	Ion transport 2 (1);	0.089879	0.85682	D	0.000000	T	0.15262	0.0368	L	0.53617	1.68	0.80722	D	1	B	0.29671	0.254	B	0.31686	0.134	T	0.03863	-1.0997	10	0.56958	D	0.05	.	11.5938	0.50962	0.1333:0.0:0.0:0.8667	.	82	O95279	KCNK5_HUMAN	Y	82	ENSP00000352527:N82Y	ENSP00000352527:N82Y	N	-	1	0	KCNK5	39271684	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.639000	0.67868	2.200000	0.70718	0.459000	0.35465	AAC		0.502	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		17	19	0	0	0	1	0	17	19				
PTCHD4	442213	broad.mit.edu	37	6	47847438	47847438	+	Missense_Mutation	SNP	T	T	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:47847438T>A	ENST00000339488.4	-	3	1175	c.1142A>T	c.(1141-1143)tAc>tTc	p.Y381F		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	381	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GGAGAAAATGTAGAAGTAGTT	0.448																																						ENST00000339488.4																			0											c.(1141-1143)tAc>tTc		patched domain containing 4							81.0	79.0	80.0					6																	47847438		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847438T>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1142A>T	6.37:g.47847438T>A	ENSP00000341914:p.Tyr381Phe						p.Y381F	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	1175	-			381			SSD.		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.1142A>T	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	T	13.70	2.314418	0.40996	.	.	ENSG00000244694	ENST00000339488	D	0.90133	-2.62	5.01	5.01	0.66863	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.85813	0.5784	L	0.41961	1.31	0.80722	D	1	P	0.42296	0.775	P	0.46758	0.526	D	0.85399	0.1130	10	0.32370	T	0.25	.	14.738	0.69430	0.0:0.0:0.0:1.0	.	381	Q6ZW05	CF138_HUMAN	F	381	ENSP00000341914:Y381F	ENSP00000341914:Y381F	Y	-	2	0	C6orf138	47955397	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.972000	0.70448	1.895000	0.54865	0.528000	0.53228	TAC		0.448	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		15	26	0	0	0	1	0	15	26				
TRA2A	29896	broad.mit.edu	37	7	23556149	23556149	+	Splice_Site	SNP	T	T	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr7:23556149T>A	ENST00000297071.4	-	3	387		c.e3-2		TRA2A_ENST00000392502.4_Splice_Site|TRA2A_ENST00000538367.1_Splice_Site|TRA2A_ENST00000474586.1_Splice_Site	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)						mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GACCTCGACCTTTGAGAGAAA	0.408																																					Pancreas(121;2137 2973 46590)	ENST00000297071.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.e3-2		transformer 2 alpha homolog (Drosophila)							106.0	95.0	98.0					7																	23556149		2203	4300	6503	SO:0001630	splice_region_variant	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23556149T>A	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.171-2A>T	7.37:g.23556149T>A						TRA2A_ENST00000538367.1_Splice_Site|TRA2A_ENST00000474586.1_Splice_Site|TRA2A_ENST00000392502.4_Splice_Site		NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN			3	387	-								B4DUA9	Splice_Site	SNP	ENST00000297071.4	37		CCDS5383.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.435335	0.83885	.	.	ENSG00000164548	ENST00000297071	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2204	0.82255	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRA2A	23522674	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	5.747000	0.68689	2.236000	0.73375	0.333000	0.21579	.		0.408	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293	Intron	30	28	0	0	0	1	0	30	28				
ZNF679	168417	broad.mit.edu	37	7	63721228	63721228	+	Missense_Mutation	SNP	G	G	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr7:63721228G>C	ENST00000421025.1	+	4	452	c.183G>C	c.(181-183)aaG>aaC	p.K61N	ZNF679_ENST00000255746.4_Missense_Mutation_p.K61N	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CTGTCTCTAAGCCAGACTTGA	0.353																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(181-183)aaG>aaC		zinc finger protein 679							100.0	87.0	91.0					7																	63721228		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63721228G>C	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.183G>C	7.37:g.63721228G>C	ENSP00000416809:p.Lys61Asn					ZNF679_ENST00000255746.4_Missense_Mutation_p.K61N	p.K61N	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			4	452	+			61			KRAB.			Missense_Mutation	SNP	ENST00000421025.1	37	c.183G>C	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	G	6.643	0.487162	0.12641	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.00932	5.53;5.53	0.235	0.235	0.15431	Krueppel-associated box (3);	.	.	.	.	T	0.01661	0.0053	M	0.67953	2.075	0.21652	N	0.999605	P	0.40970	0.734	B	0.42798	0.398	T	0.43572	-0.9383	8	0.51188	T	0.08	.	.	.	.	.	61	Q8IYX0	ZN679_HUMAN	N	61	ENSP00000416809:K61N;ENSP00000255746:K61N	ENSP00000255746:K61N	K	+	3	2	ZNF679	63358663	0.001000	0.12720	0.492000	0.27490	0.494000	0.33585	-0.077000	0.11394	0.308000	0.22923	0.313000	0.20887	AAG		0.353	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		3	54	0	0	0	1	0	3	54				
INPP5B	3633	broad.mit.edu	37	1	38338661	38338661	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:38338661T>C	ENST00000373026.1	-	18	2368	c.2368A>G	c.(2368-2370)Aca>Gca	p.T790A	INPP5B_ENST00000373024.3_Missense_Mutation_p.T710A|INPP5B_ENST00000373023.2_Missense_Mutation_p.T790A|INPP5B_ENST00000373027.1_Missense_Mutation_p.T546A			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	790					in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TAACACAGTGTATGAATGGGA	0.443																																						ENST00000373023.2																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(2368-2370)Aca>Gca		inositol polyphosphate-5-phosphatase, 75kDa							145.0	139.0	141.0					1																	38338661		1903	4131	6034	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38338661T>C	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.2368A>G	1.37:g.38338661T>C	ENSP00000362117:p.Thr790Ala					INPP5B_ENST00000373027.1_Missense_Mutation_p.T546A|INPP5B_ENST00000373024.3_Missense_Mutation_p.T710A|INPP5B_ENST00000373026.1_Missense_Mutation_p.T790A	p.T790A	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN			19	2461	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	790					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.2368A>G		.	.	.	.	.	.	.	.	.	.	T	9.301	1.053193	0.19907	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.95	5.95	0.96441	Rho GTPase-activating protein domain (1);	0.308066	0.40144	N	0.001179	T	0.10337	0.0253	N	0.20986	0.625	0.54753	D	0.999981	B;B	0.22909	0.077;0.022	B;B	0.20955	0.032;0.007	T	0.08534	-1.0717	10	0.06236	T	0.91	.	11.4545	0.50173	0.0:0.0696:0.0:0.9304	.	790;710	P32019;P32019-2	I5P2_HUMAN;.	A	546;790;790;790;710	ENSP00000362118:T546A;ENSP00000362114:T790A;ENSP00000362117:T790A;ENSP00000362115:T710A	ENSP00000362114:T790A	T	-	1	0	INPP5B	38111248	0.484000	0.25964	0.992000	0.48379	0.976000	0.68499	0.697000	0.25556	2.281000	0.76405	0.523000	0.50628	ACA		0.443	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		9	38	0	0	0	1	0	9	38				
GJA5	2702	broad.mit.edu	37	1	147230980	147230980	+	Missense_Mutation	SNP	A	A	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:147230980A>T	ENST00000271348.2	-	2	528	c.367T>A	c.(367-369)Tac>Aac	p.Y123N	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.Y123N	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	123					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GGGTACTCGTAAGAGCCAGAG	0.607																																						ENST00000271348.2																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(367-369)Tac>Aac		gap junction protein, alpha 5, 40kDa							67.0	66.0	67.0					1																	147230980		2203	4300	6503	SO:0001583	missense	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230980A>T		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.367T>A	1.37:g.147230980A>T	ENSP00000271348:p.Tyr123Asn					GJA5_ENST00000369237.1_Missense_Mutation_p.Y123N	p.Y123N	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	528	-	all_hematologic(923;0.0276)		123					Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	c.367T>A	CCDS929.1	.	.	.	.	.	.	.	.	.	.	A	0.800	-0.755805	0.03019	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.97378	-4.29;-4.29;-4.36	5.15	2.8	0.32819	.	3.422580	0.00575	N	0.000313	D	0.91888	0.7432	M	0.68317	2.08	0.09310	N	1	P	0.37955	0.612	B	0.36335	0.222	D	0.83588	0.0121	10	0.18276	T	0.48	.	7.8421	0.29403	0.7897:0.1385:0.0718:0.0	.	123	P36382	CXA5_HUMAN	N	123	ENSP00000271348:Y123N;ENSP00000358240:Y123N;ENSP00000407645:Y123N	ENSP00000271348:Y123N	Y	-	1	0	GJA5	145697604	0.837000	0.29446	0.000000	0.03702	0.039000	0.13416	3.565000	0.53798	0.410000	0.25675	0.460000	0.39030	TAC		0.607	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		27	88	0	0	0	1	0	27	88				
FAM13A	10144	broad.mit.edu	37	4	89702352	89702352	+	Silent	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr4:89702352T>C	ENST00000264344.5	-	11	1629	c.1422A>G	c.(1420-1422)aaA>aaG	p.K474K	FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000395002.2_Silent_p.K148K|FAM13A_ENST00000503556.1_Silent_p.K134K|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000508369.1_Silent_p.K148K|FAM13A_ENST00000513837.1_Silent_p.K120K	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	474					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GCTCAGAAAGTTTAGTACTGG	0.358																																						ENST00000264344.5																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(1420-1422)aaA>aaG		family with sequence similarity 13, member A							128.0	117.0	121.0					4																	89702352		2203	4300	6503	SO:0001819	synonymous_variant	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89702352T>C	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1422A>G	4.37:g.89702352T>C						FAM13A_ENST00000395002.2_Silent_p.K148K|FAM13A_ENST00000508369.1_Silent_p.K148K|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000513837.1_Silent_p.K120K|FAM13A_ENST00000503556.1_Silent_p.K134K	p.K474K	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN			11	1629	-			474					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	c.1422A>G	CCDS34029.1																																																																																				0.358	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			31	69	0	0	0	1	0	31	69				
UBR2	23304	broad.mit.edu	37	6	42657359	42657359	+	Missense_Mutation	SNP	T	T	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:42657359T>G	ENST00000372899.1	+	46	5335	c.5077T>G	c.(5077-5079)Tat>Gat	p.Y1693D	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.Y1693D	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1693					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGGCTGTTTTTATTCTCCTCC	0.468																																						ENST00000372901.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(5077-5079)Tat>Gat		ubiquitin protein ligase E3 component n-recognin 2							382.0	384.0	383.0					6																	42657359		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42657359T>G	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.5077T>G	6.37:g.42657359T>G	ENSP00000361990:p.Tyr1693Asp					UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Missense_Mutation_p.Y1693D	p.Y1693D			Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		46	5335	+	Colorectal(47;0.196)		1693					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.5077T>G	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.862462	0.91511	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.50548	0.74;0.74	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;P	0.91635	0.995;0.999;0.837	T	0.71708	-0.4511	10	0.62326	D	0.03	-29.3062	15.5568	0.76200	0.0:0.0:0.0:1.0	.	281;1693;1693	B3KXG6;Q8IWV8-4;Q8IWV8	.;.;UBR2_HUMAN	D	1693	ENSP00000361990:Y1693D;ENSP00000361992:Y1693D	ENSP00000361990:Y1693D	Y	+	1	0	UBR2	42765337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.073000	0.62155	0.455000	0.32223	TAT		0.468	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		128	302	0	0	0	1	0	128	302				
CCT2	10576	broad.mit.edu	37	12	69985925	69985925	+	Missense_Mutation	SNP	A	A	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr12:69985925A>T	ENST00000299300.6	+	8	924	c.736A>T	c.(736-738)Aca>Tca	p.T246S	CCT2_ENST00000543146.2_Missense_Mutation_p.T199S|CCT2_ENST00000544368.2_Missense_Mutation_p.T246S	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	246					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGGTATGGATACAGACAAAAT	0.333																																						ENST00000543146.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(595-597)Aca>Tca		chaperonin containing TCP1, subunit 2 (beta)							57.0	65.0	62.0					12																	69985925		2203	4299	6502	SO:0001583	missense	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69985925A>T	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.736A>T	12.37:g.69985925A>T	ENSP00000299300:p.Thr246Ser					CCT2_ENST00000299300.6_Missense_Mutation_p.T246S|CCT2_ENST00000544368.2_Missense_Mutation_p.T246S	p.T199S	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		8	1077	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		246					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	37	c.595A>T	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.135793	0.56828	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.67345	-0.26;-0.26;-0.26	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.66127	0.2758	L	0.58354	1.805	0.80722	D	1	B;B	0.30709	0.062;0.291	B;B	0.35899	0.057;0.213	T	0.63314	-0.6665	9	.	.	.	-22.188	15.524	0.75887	1.0:0.0:0.0:0.0	.	246;246	F5GWF6;P78371	.;TCPB_HUMAN	S	246;246;199	ENSP00000299300:T246S;ENSP00000441847:T246S;ENSP00000445471:T199S	.	T	+	1	0	CCT2	68272192	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.425000	0.73370	2.137000	0.66172	0.460000	0.39030	ACA		0.333	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		24	45	0	0	0	1	0	24	45				
MYOF	26509	broad.mit.edu	37	10	95070306	95070306	+	Missense_Mutation	SNP	T	T	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:95070306T>A	ENST00000359263.4	-	52	5983	c.5984A>T	c.(5983-5985)aAg>aTg	p.K1995M	MYOF_ENST00000358334.5_Missense_Mutation_p.K1982M|MYOF_ENST00000371502.4_Missense_Mutation_p.K1985M|MYOF_ENST00000371501.4_Missense_Mutation_p.K1995M	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1995					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TAAGTCCAGCTTGGGGTTCAT	0.562																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(5983-5985)aAg>aTg		myoferlin							129.0	133.0	132.0					10																	95070306		1933	4111	6044	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95070306T>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5984A>T	10.37:g.95070306T>A	ENSP00000352208:p.Lys1995Met					MYOF_ENST00000359263.4_Missense_Mutation_p.K1995M|MYOF_ENST00000358334.5_Missense_Mutation_p.K1982M|MYOF_ENST00000371502.4_Missense_Mutation_p.K1985M	p.K1995M			Q9NZM1	MYOF_HUMAN			52	6106	-			1995					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.5984A>T	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.529795	0.64860	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.78	5.08	5.08	0.68730	.	0.047978	0.85682	D	0.000000	D	0.92260	0.7545	M	0.83012	2.62	0.48762	D	0.999706	D;D	0.76494	0.998;0.999	D;P	0.70016	0.967;0.885	D	0.93281	0.6660	10	0.66056	D	0.02	-22.0812	14.9879	0.71362	0.0:0.0:0.0:1.0	.	1982;1995	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	M	1982;1995;1995;1985	ENSP00000351094:K1982M;ENSP00000352208:K1995M;ENSP00000360556:K1995M;ENSP00000360557:K1985M	ENSP00000351094:K1982M	K	-	2	0	MYOF	95060296	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.673000	0.37534	2.124000	0.65301	0.391000	0.25812	AAG		0.562	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		19	56	0	0	0	1	0	19	56				
CTNNB1	1499	broad.mit.edu	37	3	41266100	41266100	+	Missense_Mutation	SNP	T	T	G	rs121913416		TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr3:41266100T>G	ENST00000349496.5	+	3	377	c.97T>G	c.(97-99)Tct>Gct	p.S33A	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	33			Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> F (in PTR, MDB and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10666372}.|S -> L (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:9065402}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_A80del(53)|p.S33P(47)|p.S33A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.W25_D32del(4)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.D32_S33insS(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.S33T(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TTACCTGGACTCTGGAATCCA	0.488		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	212	Deletion - In frame(115)|Substitution - Missense(70)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.A5_A80del(53)|p.S33P(47)|p.S33A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.W25_D32del(4)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.D32_S33insS(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.S33T(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	liver(130)|large_intestine(20)|endometrium(14)|stomach(10)|pituitary(9)|pancreas(9)|central_nervous_system(8)|adrenal_gland(2)|small_intestine(2)|biliary_tract(2)|skin(2)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|breast(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(97-99)Tct>Gct		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						93.0	77.0	82.0					3																	41266100		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266100T>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.97T>G	3.37:g.41266100T>G	ENSP00000344456:p.Ser33Ala					CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26A	p.S33A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	377	+			33		Missing (in hepatocellular carcinoma).|S -> F (in PTR, MDB and hepatocellular carcinoma).|S -> L (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.97T>G	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317386	0.81469	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.70281	0.3206	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74509	-0.3642	10	0.87932	D	0	-10.7796	16.0677	0.80897	0.0:0.0:0.0:1.0	.	33	P35222	CTNB1_HUMAN	A	26;33;33;33;33;26;33;33;33	ENSP00000400508:S26A;ENSP00000385604:S33A;ENSP00000412219:S33A;ENSP00000379486:S33A;ENSP00000344456:S33A;ENSP00000411226:S26A;ENSP00000379488:S33A;ENSP00000409302:S33A;ENSP00000401599:S33A	ENSP00000344456:S33A	S	+	1	0	CTNNB1	41241104	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.201000	0.70794	0.533000	0.62120	TCT		0.488	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		3	39	0	0	0	1	0	3	39				
IARS	3376	broad.mit.edu	37	9	95043126	95043126	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr9:95043126T>C	ENST00000375643.3	-	7	913	c.647A>G	c.(646-648)gAa>gGa	p.E216G	IARS_ENST00000443024.2_Missense_Mutation_p.E216G|IARS_ENST00000447699.2_Missense_Mutation_p.E106G|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	216					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGATACAGTTTCATCTTCTTC	0.353																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(646-648)gAa>gGa		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						98.0	90.0	93.0					9																	95043126		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95043126T>C	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.647A>G	9.37:g.95043126T>C	ENSP00000364794:p.Glu216Gly					IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.E216G|IARS_ENST00000447699.2_Missense_Mutation_p.E106G	p.E216G	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			7	913	-			216					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.647A>G	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.671896	0.47781	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000395554	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.55	4.38	0.52667	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.229367	0.43919	D	0.000514	T	0.67636	0.2914	L	0.35723	1.085	0.80722	D	1	B;B	0.16802	0.0;0.019	B;B	0.25759	0.012;0.063	T	0.63470	-0.6630	10	0.59425	D	0.04	-17.5558	7.313	0.26485	0.1441:0.0:0.1505:0.7053	.	216;61	P41252;Q6P0M4	SYIC_HUMAN;.	G	216;216;106;216;216	ENSP00000364794:E216G;ENSP00000406448:E216G;ENSP00000415020:E106G;ENSP00000378922:E216G	ENSP00000364794:E216G	E	-	2	0	IARS	94082947	1.000000	0.71417	0.995000	0.50966	0.900000	0.52787	2.023000	0.41040	1.004000	0.39156	0.533000	0.62120	GAA		0.353	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		10	25	0	0	0	1	0	10	25				
SCN7A	6332	broad.mit.edu	37	2	167289254	167289254	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr2:167289254G>T	ENST00000409855.1	-	15	2292	c.2166C>A	c.(2164-2166)taC>taA	p.Y722*		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	722					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CCAGAAACAGGTAAAGTACCT	0.328																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(2164-2166)taC>taA		sodium channel, voltage-gated, type VII, alpha subunit							22.0	20.0	20.0					2																	167289254		1845	4084	5929	SO:0001587	stop_gained	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167289254G>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2166C>A	2.37:g.167289254G>T	ENSP00000386796:p.Tyr722*						p.Y722*	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			15	2292	-			722						Nonsense_Mutation	SNP	ENST00000409855.1	37	c.2166C>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	37	6.364030	0.97507	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	.	.	.	6.17	5.29	0.74685	.	0.118466	0.38548	N	0.001644	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	12.5938	0.56456	0.0785:0.0:0.9215:0.0	.	.	.	.	X	722	.	ENSP00000259060:Y722X	Y	-	3	2	SCN7A	166997500	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	1.735000	0.38176	2.941000	0.99782	0.655000	0.94253	TAC		0.328	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			4	12	1	0	0.00909568	1	0.00926257	4	12				
ARHGEF10L	55160	broad.mit.edu	37	1	17914091	17914091	+	Missense_Mutation	SNP	G	G	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:17914091G>C	ENST00000361221.3	+	3	333	c.174G>C	c.(172-174)gaG>gaC	p.E58D	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.E58D|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.E58D|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.E58D|ARHGEF10L_ENST00000375420.3_5'Flank	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	58						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TTGCTCCTGAGAGGGACACAG	0.587																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(172-174)gaG>gaC		Rho guanine nucleotide exchange factor (GEF) 10-like							148.0	162.0	157.0					1																	17914091		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17914091G>C	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.174G>C	1.37:g.17914091G>C	ENSP00000355060:p.Glu58Asp					ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.E58D|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.E58D|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.E58D	p.E58D	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	3	333	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	58					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.174G>C	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	8.705	0.910740	0.17833	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415	T;T;T;T	0.61274	0.31;0.24;0.12;0.24	4.52	3.59	0.41128	.	1.249090	0.05716	N	0.596884	T	0.46132	0.1377	L	0.27053	0.805	0.20563	N	0.999888	B;B;B;B	0.21606	0.042;0.027;0.058;0.011	B;B;B;B	0.22880	0.033;0.042;0.042;0.014	T	0.32295	-0.9912	10	0.24483	T	0.36	-1.5486	9.1753	0.37107	0.1048:0.0:0.8952:0.0	.	58;58;58;58	Q9HCE6-5;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;ARGAL_HUMAN	D	58	ENSP00000355060:E58D;ENSP00000399401:E58D;ENSP00000394621:E58D;ENSP00000364564:E58D	ENSP00000355060:E58D	E	+	3	2	ARHGEF10L	17786678	0.014000	0.17966	0.001000	0.08648	0.013000	0.08279	1.349000	0.33998	1.005000	0.39183	0.561000	0.74099	GAG		0.587	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		78	211	0	0	0	1	0	78	211				
VEPH1	79674	broad.mit.edu	37	3	157081347	157081347	+	Missense_Mutation	SNP	A	A	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr3:157081347A>G	ENST00000362010.2	-	9	1848	c.1541T>C	c.(1540-1542)aTa>aCa	p.I514T	VEPH1_ENST00000392833.2_Missense_Mutation_p.I514T|VEPH1_ENST00000543418.1_Missense_Mutation_p.I514T|VEPH1_ENST00000392832.2_Missense_Mutation_p.I514T|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	514						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GTCTATATGTATAATATTTGG	0.413																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1540-1542)aTa>aCa		ventricular zone expressed PH domain-containing 1							103.0	112.0	109.0					3																	157081347		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157081347A>G	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1541T>C	3.37:g.157081347A>G	ENSP00000354919:p.Ile514Thr					RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.I514T|VEPH1_ENST00000543418.1_Missense_Mutation_p.I514T|VEPH1_ENST00000392832.2_Missense_Mutation_p.I514T	p.I514T	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		9	1848	-			514					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.1541T>C	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	A	0.160	-1.082079	0.01888	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.12361	2.69;2.75;2.69;2.75	5.5	-2.15	0.07102	.	1.247070	0.05261	N	0.515774	T	0.06050	0.0157	N	0.14661	0.345	0.09310	N	1	B;B	0.22211	0.066;0.002	B;B	0.21708	0.036;0.004	T	0.33137	-0.9880	10	0.02654	T	1	-0.2426	4.7412	0.13013	0.2826:0.0:0.2569:0.4604	.	514;514	Q14D04-2;Q14D04	.;MELT_HUMAN	T	514	ENSP00000376578:I514T;ENSP00000354919:I514T;ENSP00000446258:I514T;ENSP00000376577:I514T	ENSP00000354919:I514T	I	-	2	0	VEPH1	158564041	0.003000	0.15002	0.004000	0.12327	0.190000	0.23558	0.862000	0.27899	-0.180000	0.10637	-0.256000	0.11100	ATA		0.413	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		31	76	0	0	0	1	0	31	76				
LUZP1	7798	broad.mit.edu	37	1	23419974	23419974	+	Missense_Mutation	SNP	G	G	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:23419974G>T	ENST00000302291.4	-	4	1582	c.781C>A	c.(781-783)Ctg>Atg	p.L261M	LUZP1_ENST00000418342.1_Missense_Mutation_p.L261M|LUZP1_ENST00000314174.5_Missense_Mutation_p.L261M|LUZP1_ENST00000374623.3_Missense_Mutation_p.L261M			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	261					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGGTAGTCCAGACCACCCTTC	0.408																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(781-783)Ctg>Atg		leucine zipper protein 1							155.0	144.0	148.0					1																	23419974		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23419974G>T	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.781C>A	1.37:g.23419974G>T	ENSP00000303758:p.Leu261Met					LUZP1_ENST00000314174.5_Missense_Mutation_p.L261M|LUZP1_ENST00000374623.3_Missense_Mutation_p.L261M|LUZP1_ENST00000418342.1_Missense_Mutation_p.L261M	p.L261M			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	1582	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	261					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.781C>A	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.767967	0.49680	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174;ENST00000471849	T;T;T;T;T	0.57107	1.94;1.94;1.94;1.86;0.42	6.17	5.26	0.73747	.	0.000000	0.37437	N	0.002093	T	0.64382	0.2593	L	0.60455	1.87	0.38886	D	0.957015	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.66767	-0.5840	10	0.59425	D	0.04	.	7.5241	0.27645	0.1446:0.1489:0.7065:0.0	.	261;261	Q86V48-2;Q86V48	.;LUZP1_HUMAN	M	261	ENSP00000393460:L261M;ENSP00000363752:L261M;ENSP00000303758:L261M;ENSP00000313705:L261M;ENSP00000428061:L261M	ENSP00000303758:L261M	L	-	1	2	LUZP1	23292561	1.000000	0.71417	0.973000	0.42090	0.664000	0.39144	3.340000	0.52143	2.941000	0.99782	0.655000	0.94253	CTG		0.408	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		19	38	1	0	7.41877e-09	1	7.76872e-09	19	38				
ZNF98	148198	broad.mit.edu	37	19	22575729	22575729	+	Missense_Mutation	SNP	T	T	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr19:22575729T>A	ENST00000357774.5	-	4	429	c.308A>T	c.(307-309)tAt>tTt	p.Y103F		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTTTTGGAAATAATTTTTTTT	0.303																																						ENST00000357774.5																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(307-309)tAt>tTt		zinc finger protein 98							42.0	34.0	36.0					19																	22575729		1868	4125	5993	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22575729T>A		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.308A>T	19.37:g.22575729T>A	ENSP00000350418:p.Tyr103Phe						p.Y103F	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN			4	429	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	103						Missense_Mutation	SNP	ENST00000357774.5	37	c.308A>T	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	2.125	-0.400432	0.04865	.	.	ENSG00000197360	ENST00000357774	T	0.06218	3.33	0.916	-0.309	0.12769	.	.	.	.	.	T	0.03348	0.0097	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47018	-0.9149	9	0.19590	T	0.45	.	1.3545	0.02179	0.3466:0.2994:0.0:0.354	.	103	A6NK75	ZNF98_HUMAN	F	103	ENSP00000350418:Y103F	ENSP00000350418:Y103F	Y	-	2	0	ZNF98	22367569	0.000000	0.05858	0.166000	0.22797	0.164000	0.22412	-0.494000	0.06451	0.257000	0.21650	0.254000	0.18369	TAT		0.303	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		6	21	0	0	0	1	0	6	21				
NRG1	3084	broad.mit.edu	37	8	32599590	32599590	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr8:32599590G>T	ENST00000405005.3	+	7	697	c.697G>T	c.(697-699)Gaa>Taa	p.E233*	NRG1_ENST00000519301.1_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000341377.5_Nonsense_Mutation_p.E233*|NRG1_ENST00000520502.2_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000521670.1_Nonsense_Mutation_p.E233*|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000338921.4_Nonsense_Mutation_p.E233*|NRG1_ENST00000356819.4_Intron			Q02297	NRG1_HUMAN	neuregulin 1	233					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCAAAACCAAGAAAGTATGTC	0.398																																						ENST00000341377.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(697-699)Gaa>Taa		neuregulin 1							114.0	99.0	104.0					8																	32599590		2203	4300	6503	SO:0001587	stop_gained	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32599590G>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.697G>T	8.37:g.32599590G>T	ENSP00000384620:p.Glu233*					NRG1_ENST00000287840.5_Nonsense_Mutation_p.E233*|NRG1_ENST00000405005.2_Nonsense_Mutation_p.E233*|NRG1_ENST00000520502.2_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000338921.4_Nonsense_Mutation_p.E233*|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000521670.1_Nonsense_Mutation_p.E233*|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000520407.1_Intron	p.E233*			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	7	1214	+		Breast(100;0.203)	233					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Nonsense_Mutation	SNP	ENST00000405005.3	37	c.697G>T	CCDS6085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.496391|8.496391	0.98836|0.98836	.|.	.|.	ENSG00000157168|ENSG00000157168	ENST00000338921;ENST00000287840;ENST00000341377;ENST00000405005;ENST00000521670;ENST00000522402|ENST00000518206	.|.	.|.	.|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.855226|.	0.10364|.	N|.	0.683582|.	.|T	.|0.77054	.|0.4074	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74047	.|-0.3790	.|4	0.22109|.	T|.	0.4|.	2.3086|2.3086	20.3368|20.3368	0.98748|0.98748	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	233;233;233;233;233;79|111	.|.	ENSP00000287840:E233X|.	E|K	+|+	1|3	0|2	NRG1|NRG1	32719132|32719132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.429000|5.429000	0.66495|0.66495	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.398	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			16	29	1	0	1.5739e-10	1	1.69614e-10	16	29				
CARD6	84674	broad.mit.edu	37	5	40853136	40853136	+	Silent	SNP	C	C	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:40853136C>T	ENST00000254691.5	+	3	1901	c.1702C>T	c.(1702-1704)Cta>Tta	p.L568L	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	568					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ATGGGACTTGCTAATGTTTTT	0.398																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(1702-1704)Cta>Tta		caspase recruitment domain family, member 6							119.0	118.0	119.0					5																	40853136		2203	4300	6503	SO:0001819	synonymous_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853136C>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1702C>T	5.37:g.40853136C>T						CARD6_ENST00000381677.3_Intron	p.L568L	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	1901	+			568					Q52LR2	Silent	SNP	ENST00000254691.5	37	c.1702C>T	CCDS3935.1																																																																																				0.398	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			8	129	0	0	0	1	0	8	129				
TRUB2	26995	broad.mit.edu	37	9	131071863	131071863	+	Missense_Mutation	SNP	G	G	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr9:131071863G>C	ENST00000372890.4	-	8	1295	c.962C>G	c.(961-963)tCt>tGt	p.S321C	TRUB2_ENST00000546104.1_Missense_Mutation_p.S265C|TRUB2_ENST00000460320.1_5'Flank	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	321					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CCCCAAGGTAGAGCTCGGGCC	0.622																																						ENST00000372890.4																			0				kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						c.(961-963)tCt>tGt		TruB pseudouridine (psi) synthase family member 2							34.0	38.0	36.0					9																	131071863		2203	4300	6503	SO:0001583	missense	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131071863G>C	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.962C>G	9.37:g.131071863G>C	ENSP00000361982:p.Ser321Cys					TRUB2_ENST00000546104.1_Missense_Mutation_p.S265C	p.S321C	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN			8	1295	-			321					B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	37	c.962C>G	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617635	0.46736	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.20463	2.07;2.08	5.27	4.36	0.52297	.	1.382140	0.04189	N	0.327912	T	0.26557	0.0649	L	0.54323	1.7	0.09310	N	1	P	0.52170	0.951	B	0.40901	0.343	T	0.33574	-0.9863	10	0.56958	D	0.05	-0.4431	11.9837	0.53133	0.0877:0.0:0.9123:0.0	.	321	O95900	TRUB2_HUMAN	C	321;265	ENSP00000361982:S321C;ENSP00000438084:S265C	ENSP00000361982:S321C	S	-	2	0	TRUB2	130111684	0.023000	0.18921	0.011000	0.14972	0.012000	0.07955	2.153000	0.42282	2.615000	0.88500	0.561000	0.74099	TCT		0.622	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		26	69	0	0	0	1	0	26	69				
A1CF	29974	broad.mit.edu	37	10	52595854	52595854	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:52595854G>A	ENST00000373993.1	-	4	628	c.584C>T	c.(583-585)gCg>gTg	p.A195V	A1CF_ENST00000395489.2_Missense_Mutation_p.A188V|A1CF_ENST00000395495.1_Missense_Mutation_p.A195V|A1CF_ENST00000282641.2_Missense_Mutation_p.A195V|A1CF_ENST00000373997.3_Missense_Mutation_p.A195V|A1CF_ENST00000373995.3_Missense_Mutation_p.A203V|A1CF_ENST00000374001.2_Missense_Mutation_p.A195V			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	195	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.A203V(2)|p.A195V(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTCCTCCTCGCCATGGCAGC	0.488																																						ENST00000395489.2																			4	Substitution - Missense(4)	p.A203V(2)|p.A195V(2)	lung(2)|breast(2)	NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(562-564)gCg>gTg		APOBEC1 complementation factor							106.0	96.0	100.0					10																	52595854		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52595854G>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.584C>T	10.37:g.52595854G>A	ENSP00000363105:p.Ala195Val					A1CF_ENST00000373995.3_Missense_Mutation_p.A203V|A1CF_ENST00000395495.1_Missense_Mutation_p.A195V|A1CF_ENST00000282641.2_Missense_Mutation_p.A195V|A1CF_ENST00000374001.1_Missense_Mutation_p.A195V|A1CF_ENST00000373993.1_Missense_Mutation_p.A195V|A1CF_ENST00000373997.3_Missense_Mutation_p.A195V	p.A188V	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			8	959	-			195			RRM 2.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.563C>T	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550854	0.86127	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28	6.04	5.1	0.69264	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.046025	0.85682	D	0.000000	T	0.64616	0.2614	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.993;0.998	D;P;P;P	0.64042	0.921;0.893;0.73;0.888	T	0.71255	-0.4647	10	0.87932	D	0	-9.2963	16.5645	0.84575	0.0:0.1418:0.8582:0.0	.	188;195;195;203	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	V	195;195;195;203;195;195;178;188;195	ENSP00000363113:A195V;ENSP00000363105:A195V;ENSP00000363109:A195V;ENSP00000363107:A203V;ENSP00000282641:A195V;ENSP00000378873:A195V;ENSP00000378868:A188V;ENSP00000397953:A195V	ENSP00000282641:A195V	A	-	2	0	A1CF	52265860	1.000000	0.71417	0.999000	0.59377	0.619000	0.37552	7.811000	0.86092	2.873000	0.98535	0.563000	0.77884	GCG		0.488	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		22	66	0	0	0	1	0	22	66				
XKR3	150165	broad.mit.edu	37	22	17288741	17288741	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr22:17288741T>C	ENST00000331428.5	-	2	325	c.223A>G	c.(223-225)Att>Gtt	p.I75V		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCCCCCACAATAATAAAGCTG	0.353																																						ENST00000331428.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(223-225)Att>Gtt		XK, Kell blood group complex subunit-related family, member 3							88.0	81.0	83.0					22																	17288741		1827	4078	5905	SO:0001583	missense	150165					integral to membrane|plasma membrane		g.chr22:17288741T>C	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.223A>G	22.37:g.17288741T>C	ENSP00000331704:p.Ile75Val						p.I75V	NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN			2	325	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	75					B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	c.223A>G	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	10.33	1.321578	0.23994	.	.	ENSG00000172967	ENST00000331428	T	0.61980	0.06	0.539	0.539	0.17156	.	0.106566	0.34676	U	0.003778	T	0.31979	0.0814	N	0.08118	0	0.09310	N	1	B	0.27910	0.193	B	0.24974	0.057	T	0.09487	-1.0672	10	0.38643	T	0.18	.	2.6787	0.05087	0.4304:0.0:1.0E-4:0.5696	.	75	Q5GH77	XKR3_HUMAN	V	75	ENSP00000331704:I75V	ENSP00000331704:I75V	I	-	1	0	XKR3	15668741	0.390000	0.25213	0.050000	0.19076	0.166000	0.22503	-0.160000	0.10041	0.485000	0.27652	0.246000	0.17985	ATT		0.353	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		28	48	0	0	0	1	0	28	48				
CROCCP2	84809	broad.mit.edu	37	1	16956761	16956761	+	lincRNA	SNP	C	C	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:16956761C>G	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCTGGACCTGCCCTGGGGCAG	0.647																																						ENST00000412962.1																			0																																																			0							g.chr1:16956761C>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16956761C>G														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.647	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	14	0	0	0	1	0	3	14				
EPPIN	57119	broad.mit.edu	37	20	44167963	44167963	+	IGR	SNP	G	G	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr20:44167963G>A	ENST00000354280.4	-	0	1987				WFDC6_ENST00000600168.1_Silent_p.I28I|EPPIN-WFDC6_ENST00000504988.1_Intron|WFDC6_ENST00000372670.3_Silent_p.I28I|EPPIN_ENST00000555685.1_Intron	NM_020398.3	NP_065131.1	O95925	EPPI_HUMAN	epididymal peptidase inhibitor						defense response to bacterium (GO:0042742)|negative regulation of peptidase activity (GO:0010466)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TACTGCCAAGGATGCCTTCAG	0.478																																						ENST00000600168.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(82-84)atC>atT		WAP four-disulfide core domain 6							107.0	95.0	99.0					20																	44167963		2203	4300	6503	SO:0001628	intergenic_variant	140870							g.chr20:44167963G>A	AF286370	CCDS13359.1	20q13.12	2014-01-21	2012-08-22	2012-08-22	ENSG00000101448	ENSG00000101448		"""WAP four-disulfide core domain containing"""	15932	protein-coding gene	gene with protein product	"""epididymal protease inhibitor"", ""cancer/testis antigen 72"""	609031	"""serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)"", ""serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)"""	SPINLW1		11404006, 12206714	Standard	NM_020398		Approved	EPPIN1, EPPIN2, EPPIN3, dJ461P17.2, WAP7, WFDC7, CT71		O95925	OTTHUMG00000032588		20.37:g.44167963G>A						WFDC6_ENST00000372670.3_Silent_p.I28I|EPPIN_ENST00000555685.1_Intron|EPPIN-WFDC6_ENST00000504988.1_Intron	p.I28I							1	171	-		Myeloproliferative disorder(115;0.0122)						A6PVD6|Q86TP9|Q96SD7|Q9HD30	Silent	SNP	ENST00000354280.4	37	c.84C>T	CCDS13359.1																																																																																				0.478	EPPIN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079467.4			6	63	0	0	0	1	0	6	63				
A2ML1	144568	broad.mit.edu	37	12	9013852	9013852	+	Missense_Mutation	SNP	A	A	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr12:9013852A>C	ENST00000299698.7	+	28	3641	c.3461A>C	c.(3460-3462)aAc>aCc	p.N1154T	A2ML1_ENST00000539547.1_Missense_Mutation_p.N663T	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GACATCAGAAACATTCTCCTT	0.448																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(3460-3462)aAc>aCc		alpha-2-macroglobulin-like 1							161.0	157.0	158.0					12																	9013852		1923	4127	6050	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9013852A>C	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3461A>C	12.37:g.9013852A>C	ENSP00000299698:p.Asn1154Thr					A2ML1_ENST00000539547.1_Missense_Mutation_p.N663T	p.N1154T	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			28	3641	+			998						Missense_Mutation	SNP	ENST00000299698.7	37	c.3461A>C	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	1.272	-0.612721	0.03690	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.32023	1.47;1.47;1.47	3.76	1.36	0.22044	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.896444	0.09592	N	0.781393	T	0.23289	0.0563	L	0.38175	1.15	0.09310	N	1	B	0.13594	0.008	B	0.17979	0.02	T	0.27606	-1.0069	10	0.48119	T	0.1	.	6.3435	0.21337	0.7775:0.0:0.2225:0.0	.	1154	A8K2U0	A2ML1_HUMAN	T	1154;1154;704;663	ENSP00000299698:N1154T;ENSP00000443174:N704T;ENSP00000438292:N663T	ENSP00000299698:N1154T	N	+	2	0	A2ML1	8905119	0.000000	0.05858	0.016000	0.15963	0.094000	0.18550	0.317000	0.19487	0.176000	0.19873	0.460000	0.39030	AAC		0.448	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		25	92	0	0	0	1	0	25	92				
BCL11A	53335	broad.mit.edu	37	2	60687905	60687905	+	Silent	SNP	G	G	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr2:60687905G>A	ENST00000335712.6	-	4	2369	c.2142C>T	c.(2140-2142)agC>agT	p.S714S	BCL11A_ENST00000538214.1_Silent_p.S680S|BCL11A_ENST00000356842.4_Silent_p.S714S|BCL11A_ENST00000537768.1_Silent_p.S383S|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.S680S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	714					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|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)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTCCCGTGCCGCTGCGCCCCG	0.652			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(2140-2142)agC>agT		B-cell CLL/lymphoma 11A (zinc finger protein)							41.0	47.0	45.0					2																	60687905		2203	4300	6503	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60687905G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.2142C>T	2.37:g.60687905G>A						BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Silent_p.S680S|BCL11A_ENST00000537768.1_Silent_p.S383S|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.S680S|BCL11A_ENST00000356842.4_Silent_p.S714S	p.S714S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2369	-			714					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.2142C>T	CCDS1862.1																																																																																				0.652	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		6	98	0	0	0	1	0	6	98				
IL1RAPL1	11141	broad.mit.edu	37	X	28807502	28807502	+	Silent	SNP	T	T	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chrX:28807502T>A	ENST00000378993.1	+	2	715	c.42T>A	c.(40-42)acT>acA	p.T14T	IL1RAPL1_ENST00000302196.4_Silent_p.T14T	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	14					calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TATACGCTACTTTTACTCAGA	0.368																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(40-42)acT>acA		interleukin 1 receptor accessory protein-like 1							93.0	82.0	86.0					X																	28807502		2202	4300	6502	SO:0001819	synonymous_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:28807502T>A	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.42T>A	X.37:g.28807502T>A						IL1RAPL1_ENST00000302196.4_Silent_p.T14T	p.T14T	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			2	715	+			14					A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	c.42T>A	CCDS14218.1																																																																																				0.368	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		3	34	0	0	0	1	0	3	34				
GRID1	2894	broad.mit.edu	37	10	87484336	87484336	+	Missense_Mutation	SNP	A	A	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:87484336A>T	ENST00000327946.7	-	11	1716	c.1631T>A	c.(1630-1632)cTa>cAa	p.L544Q	GRID1_ENST00000536331.1_Missense_Mutation_p.L115Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	544					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CTTCTTAATTAGAATCCCCAC	0.522										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(1630-1632)cTa>cAa		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						70.0	69.0	69.0					10																	87484336		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87484336A>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1631T>A	10.37:g.87484336A>T	ENSP00000330148:p.Leu544Gln	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.L115Q	p.L544Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			11	1716	-			544					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.1631T>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.044932	0.55110	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.35236	1.32;1.32	5.83	5.83	0.93111	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.71143	0.3305	H	0.95365	3.66	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.80817	-0.1213	10	0.87932	D	0	.	15.3578	0.74440	1.0:0.0:0.0:0.0	.	544	Q9ULK0	GRID1_HUMAN	Q	544;115	ENSP00000330148:L544Q;ENSP00000444455:L115Q	ENSP00000330148:L544Q	L	-	2	0	GRID1	87474316	1.000000	0.71417	0.591000	0.28745	0.266000	0.26442	7.493000	0.81493	2.212000	0.71576	0.528000	0.53228	CTA		0.522	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		32	44	0	0	0	1	0	32	44				
MUC17	140453	broad.mit.edu	37	7	100681549	100681549	+	Missense_Mutation	SNP	A	A	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr7:100681549A>G	ENST00000306151.4	+	3	6916	c.6852A>G	c.(6850-6852)atA>atG	p.I2284M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2284	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAACAAGTATACCTGTCAGCC	0.463																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6850-6852)atA>atG		mucin 17, cell surface associated							226.0	231.0	230.0					7																	100681549		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681549A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6852A>G	7.37:g.100681549A>G	ENSP00000302716:p.Ile2284Met						p.I2284M	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6916	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2284			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6852A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	0.024	-1.388279	0.01185	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	1.19	-2.38	0.06622	.	.	.	.	.	T	0.01695	0.0054	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43653	-0.9378	9	0.41790	T	0.15	.	3.0872	0.06281	0.3486:0.0:0.4475:0.2039	.	2284	Q685J3	MUC17_HUMAN	M	2284	ENSP00000302716:I2284M	ENSP00000302716:I2284M	I	+	3	3	MUC17	100468269	0.219000	0.23619	0.000000	0.03702	0.020000	0.10135	-0.334000	0.07883	-2.321000	0.00641	-1.981000	0.00455	ATA		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		160	402	0	0	0	1	0	160	402				
DNAH17	8632	broad.mit.edu	37	17	76497832	76497832	+	Missense_Mutation	SNP	C	C	T	rs369607138	byFrequency	TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:76497832C>T	ENST00000585328.1	-	34	5429	c.5305G>A	c.(5305-5307)Gtg>Atg	p.V1769M	DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000389840.5_Splice_Site|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1761	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCTTGGCCACGATCATTTTG	0.617													C|||	40	0.00798722	0.0	0.0	5008	,	,		20801	0.0		0.0	False		,,,				2504	0.0409					ENST00000585328.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(5305-5307)Gtg>Atg		dynein, axonemal, heavy chain 17		C	MET/VAL	0,4250		0,0,2125	116.0	116.0	116.0		5314	-5.1	0.7	17		116	1,8451		0,1,4225	no	missense	DNAH17	NM_173628.3	21	0,1,6350	TT,TC,CC		0.0118,0.0,0.0079		1772/4463	76497832	1,12701	2125	4226	6351	SO:0001583	missense	8632							g.chr17:76497832C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5305G>A	17.37:g.76497832C>T	ENSP00000465516:p.Val1769Met					DNAH17_ENST00000389840.5_Splice_Site|DNAH17-AS1_ENST00000598378.1_3'UTR	p.V1769M	NM_173628.3	NP_775899.3			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		34	5429	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.5305G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.899|0.899	-0.722828|-0.722828	0.03158|0.03158	0.0|0.0	1.18E-4|1.18E-4	ENSG00000187775|ENSG00000187775	ENST00000389840|ENST00000300671	.|.	.|.	.|.	4.65|4.65	-5.12|-5.12	0.02893|0.02893	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73521	.|0.3597	H|H	0.98980|0.98980	4.39|4.39	0.23180|0.23180	N|N	0.998165|0.998165	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67341	.|-0.5695	.|6	.|0.87932	.|D	.|0	.|.	3.6523|3.6523	0.08208|0.08208	0.0934:0.1475:0.3903:0.3687|0.0934:0.1475:0.3903:0.3687	.|.	.|.	.|.	.|.	.|M	-1|1769	.|.	.|ENSP00000300671:V1769M	.|V	-|-	.|1	.|0	DNAH17|DNAH17	74009427|74009427	.|.	.|.	0.677000|0.677000	0.29947|0.29947	0.237000|0.237000	0.25408|0.25408	.|.	.|.	-0.199000|-0.199000	0.10317|0.10317	-1.129000|-1.129000	0.01985|0.01985	.|GTG		0.617	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	143	0	0	0	1	0	4	143				
KNDC1	85442	broad.mit.edu	37	10	135024207	135024207	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:135024207G>A	ENST00000304613.3	+	21	3908	c.3887G>A	c.(3886-3888)cGc>cAc	p.R1296H	KNDC1_ENST00000368572.2_Missense_Mutation_p.R1298H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1296	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R1296H(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTCCTCGACCGCATCAACAGC	0.622																																						ENST00000304613.3																			1	Substitution - Missense(1)	p.R1296H(1)	kidney(1)	NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(3886-3888)cGc>cAc		kinase non-catalytic C-lobe domain (KIND) containing 1							256.0	200.0	219.0					10																	135024207		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135024207G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3887G>A	10.37:g.135024207G>A	ENSP00000304437:p.Arg1296His					KNDC1_ENST00000368572.2_Missense_Mutation_p.R1298H	p.R1296H			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	21	3908	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1296			N-terminal Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.3887G>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.288083	0.59976	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.60040	0.22;0.22	3.77	3.77	0.43336	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.147145	0.42548	U	0.000681	T	0.66636	0.2809	L	0.57536	1.79	0.36990	D	0.89472	D	0.64830	0.994	P	0.57846	0.828	T	0.74702	-0.3576	10	0.54805	T	0.06	-30.0194	13.5176	0.61549	0.0:0.0:1.0:0.0	.	1296	Q76NI1	VKIND_HUMAN	H	1296;1298	ENSP00000304437:R1296H;ENSP00000357561:R1298H	ENSP00000304437:R1296H	R	+	2	0	KNDC1	134874197	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	2.579000	0.46059	1.856000	0.53863	0.196000	0.17591	CGC		0.622	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		4	185	0	0	0	1	0	4	185				
CYP4F12	66002	broad.mit.edu	37	19	15791307	15791307	+	Missense_Mutation	SNP	A	A	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr19:15791307A>C	ENST00000550308.1	+	5	883	c.503A>C	c.(502-504)aAc>aCc	p.N168T	CYP4F12_ENST00000324632.10_Missense_Mutation_p.N168T	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	168					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	ACGATCTTCAACAAGAGTGCA	0.532																																						ENST00000550308.1																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(502-504)aAc>aCc		cytochrome P450, family 4, subfamily F, polypeptide 12							51.0	51.0	51.0					19																	15791307		2203	4300	6503	SO:0001583	missense	66002							g.chr19:15791307A>C	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.503A>C	19.37:g.15791307A>C	ENSP00000448998:p.Asn168Thr					CYP4F12_ENST00000324632.9_Missense_Mutation_p.N168T	p.N168T	NM_023944.3	NP_076433.3					5	883	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.503A>C	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	9.115	1.007502	0.19199	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.68765	-0.35;-0.35	2.76	-1.01	0.10169	.	0.067360	0.56097	U	0.000031	T	0.70692	0.3253	M	0.70787	2.145	0.31690	N	0.641982	P;B	0.45212	0.853;0.066	P;B	0.58266	0.836;0.364	T	0.68784	-0.5317	10	0.48119	T	0.1	.	4.4713	0.11714	0.4879:0.3849:0.1272:0.0	.	168;168	B4E270;Q9HCS2	.;CP4FC_HUMAN	T	168	ENSP00000448998:N168T;ENSP00000321821:N168T	ENSP00000321821:N168T	N	+	2	0	CYP4F12	15652307	0.350000	0.24878	0.116000	0.21606	0.007000	0.05969	0.820000	0.27323	-0.131000	0.11578	0.260000	0.18958	AAC		0.532	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			12	38	0	0	0	1	0	12	38				
SIPA1L3	23094	broad.mit.edu	37	19	38684211	38684211	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr19:38684211C>T	ENST00000222345.6	+	18	5140	c.4631C>T	c.(4630-4632)tCg>tTg	p.S1544L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1544					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGACGCTGTCGGACGAGAGC	0.697																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(4630-4632)tCg>tTg		signal-induced proliferation-associated 1 like 3							11.0	12.0	12.0					19																	38684211		2187	4282	6469	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38684211C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4631C>T	19.37:g.38684211C>T	ENSP00000222345:p.Ser1544Leu						p.S1544L	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		18	5140	+			1544					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.4631C>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225582	0.79576	.	.	ENSG00000105738	ENST00000222345	T	0.58506	0.33	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	L	0.51422	1.61	0.80722	D	1	P	0.51933	0.949	P	0.49683	0.619	T	0.67277	-0.5711	10	0.87932	D	0	-12.4589	18.1473	0.89662	0.0:1.0:0.0:0.0	.	1544	O60292	SI1L3_HUMAN	L	1544	ENSP00000222345:S1544L	ENSP00000222345:S1544L	S	+	2	0	SIPA1L3	43376051	1.000000	0.71417	0.980000	0.43619	0.068000	0.16541	6.506000	0.73712	2.664000	0.90586	0.561000	0.74099	TCG		0.697	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		4	12	0	0	0	1	0	4	12				
CADPS	8618	broad.mit.edu	37	3	62751641	62751641	+	Missense_Mutation	SNP	G	G	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr3:62751641G>T	ENST00000383710.4	-	2	809	c.460C>A	c.(460-462)Cag>Aag	p.Q154K	CADPS_ENST00000357948.3_Missense_Mutation_p.Q154K|CADPS_ENST00000490353.2_Missense_Mutation_p.Q154K|CADPS_ENST00000283269.9_Missense_Mutation_p.Q154K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	154					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TTGACTGTCTGCAGCTGCTGT	0.468																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(460-462)Cag>Aag		Ca++-dependent secretion activator							123.0	110.0	114.0					3																	62751641		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62751641G>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.460C>A	3.37:g.62751641G>T	ENSP00000373215:p.Gln154Lys					CADPS_ENST00000490353.2_Missense_Mutation_p.Q154K|CADPS_ENST00000283269.9_Missense_Mutation_p.Q154K|CADPS_ENST00000357948.3_Missense_Mutation_p.Q154K	p.Q154K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	2	809	-		Lung SC(41;0.0452)	154					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.460C>A	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868618	0.72065	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.24	5.24	0.73138	.	0.054596	0.85682	D	0.000000	D	0.88269	0.6391	M	0.68952	2.095	0.58432	D	0.999998	P;P;D	0.54964	0.866;0.811;0.969	P;P;D	0.64877	0.591;0.879;0.93	D	0.88826	0.3302	10	0.62326	D	0.03	.	17.9568	0.89072	0.0:0.0:1.0:0.0	.	154;154;154	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	K	154	ENSP00000373215:Q154K;ENSP00000350632:Q154K;ENSP00000283269:Q154K;ENSP00000418736:Q154K	ENSP00000283269:Q154K	Q	-	1	0	CADPS	62726681	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	9.398000	0.97281	2.602000	0.87976	0.655000	0.94253	CAG		0.468	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		33	58	1	0	1.30293e-26	1	1.4179e-26	33	58				
DHFR	1719	broad.mit.edu	37	5	79933789	79933789	+	Silent	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:79933789T>C	ENST00000439211.2	-	4	775	c.282A>G	c.(280-282)ctA>ctG	p.L94L	DHFR_ENST00000513048.1_Intron|DHFR_ENST00000505337.1_Silent_p.L94L|DHFR_ENST00000511032.1_Silent_p.L94L|DHFR_ENST00000504396.1_Silent_p.L42L	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	94	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	AGGCATCATCTAGACTTCTGG	0.353																																						ENST00000439211.2																			0				kidney(1)|large_intestine(1)	2						c.(280-282)ctA>ctG		dihydrofolate reductase	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)						90.0	92.0	92.0					5																	79933789		2143	4285	6428	SO:0001819	synonymous_variant	1719				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding	g.chr5:79933789T>C		CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1.5.1.3		2861	protein-coding gene	gene with protein product		126060					Standard	XM_005248455		Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.282A>G	5.37:g.79933789T>C						DHFR_ENST00000505337.1_Silent_p.L94L|DHFR_ENST00000504396.1_Silent_p.L42L|DHFR_ENST00000511032.1_Silent_p.L94L|DHFR_ENST00000513048.1_Intron	p.L94L	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	4	775	-		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)	94			DHFR.		B4DDD2|Q14130|Q6IRW8	Silent	SNP	ENST00000439211.2	37	c.282A>G	CCDS47240.1																																																																																				0.353	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	NM_000791		21	52	0	0	0	1	0	21	52				
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711	byFrequency	TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	99						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473																																						ENST00000342960.5																			1	Substitution - Missense(1)	p.V99F(1)	kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(295-297)Gtt>Ttt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296373G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.295G>T	1.37:g.145296373G>T	ENSP00000345684:p.Val99Phe					RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.V99F	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	330	+	all_hematologic(923;0.032)		99					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.295G>T	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249076	0.22880	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.03889	3.77	1.15	-0.158	0.13383	.	.	.	.	.	T	0.03220	0.0094	M	0.72479	2.2	0.09310	N	1	.	.	.	.	.	.	T	0.38757	-0.9646	7	0.87932	D	0	.	3.0726	0.06236	0.7069:0.0:0.2931:0.0	rs3969711;rs4996270	.	.	.	F	99;24;99	ENSP00000345684:V99F	ENSP00000345684:V99F	V	+	1	0	NBPF10	144007730	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.057000	0.14279	-0.026000	0.13895	0.121000	0.15741	GTT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	186	1	0	3.59834e-05	1	3.73285e-05	5	186				
CXADR	1525	broad.mit.edu	37	21	18924261	18924261	+	Silent	SNP	G	G	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr21:18924261G>T	ENST00000284878.7	+	3	1153	c.405G>T	c.(403-405)ctG>ctT	p.L135L	CXADR_ENST00000400165.1_Silent_p.L135L|CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400169.1_Silent_p.L135L|CXADR_ENST00000400166.1_Silent_p.L135L|CXADR_ENST00000306618.10_Silent_p.L135L	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	135					actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		AGATTCATCTGGTAGTTCTTG	0.333																																						ENST00000284878.7																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11						c.(403-405)ctG>ctT		coxsackie virus and adenovirus receptor							104.0	106.0	106.0					21																	18924261		2203	4300	6503	SO:0001819	synonymous_variant	1525				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity	g.chr21:18924261G>T	Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.405G>T	21.37:g.18924261G>T						CXADR_ENST00000306618.10_Silent_p.L135L|CXADR_ENST00000400165.1_Silent_p.L135L|CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400166.1_Silent_p.L135L|CXADR_ENST00000400169.1_Silent_p.L135L	p.L135L	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN		Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)	3	1153	+			135					B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Silent	SNP	ENST00000284878.7	37	c.405G>T	CCDS33519.1																																																																																				0.333	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1			3	40	1	0	0.115264	1	0.116312	3	40				
SPOP	8405	broad.mit.edu	37	17	47696644	47696644	+	Missense_Mutation	SNP	A	A	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:47696644A>C	ENST00000393328.2	-	5	669	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V|SPOP_ENST00000393331.3_Missense_Mutation_p.F102V|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.F102V	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAGAATTTGAATTTTGCCCGA	0.408										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(304-306)Ttc>Gtc		speckle-type POZ protein							147.0	136.0	140.0					17																	47696644		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696644A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.304T>G	17.37:g.47696644A>C	ENSP00000377001:p.Phe102Val	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F102V|SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000393328.2_Missense_Mutation_p.F102V|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V	p.F102V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	774	-			102			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.304T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.465429	0.84425	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.77046	0.4073	L	0.48986	1.54	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.75869	-0.3165	10	0.39692	T	0.17	-11.8278	15.4649	0.75390	1.0:0.0:0.0:0.0	.	102	O43791	SPOP_HUMAN	V	102;102;102;102;102;55;102;102;102;102;102	ENSP00000377001:F102V;ENSP00000377004:F102V;ENSP00000240327:F102V;ENSP00000425905:F102V;ENSP00000420908:F102V;ENSP00000426986:F102V;ENSP00000420960:F102V;ENSP00000426262:F102V;ENSP00000424119:F102V;ENSP00000426537:F102V	ENSP00000240327:F102V	F	-	1	0	SPOP	45051643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TTC		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		30	37	0	0	0	1	0	30	37				
USH2A	7399	broad.mit.edu	37	1	216246269	216246269	+	Missense_Mutation	SNP	A	A	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:216246269A>G	ENST00000307340.3	-	29	6205	c.5819T>C	c.(5818-5820)gTa>gCa	p.V1940A	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.V1940A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1940	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCACTATATACTGAACCTCC	0.368										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(5818-5820)gTa>gCa		Usher syndrome 2A (autosomal recessive, mild)							148.0	126.0	134.0					1																	216246269		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216246269A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5819T>C	1.37:g.216246269A>G	ENSP00000305941:p.Val1940Ala	HNSCC(13;0.011)				RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.V1940A|RP11-22M7.2_ENST00000446411.1_RNA	p.V1940A			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	29	6205	-			1940			Fibronectin type-III 5.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5819T>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.529334	0.44969	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.38722	1.12;1.12	6.02	3.32	0.38043	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.185229	0.25845	N	0.027940	T	0.20088	0.0483	N	0.20401	0.57	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.20940	-1.0260	10	0.07644	T	0.81	.	4.5599	0.12154	0.6813:0.1253:0.0725:0.121	.	1940	O75445	USH2A_HUMAN	A	1940	ENSP00000305941:V1940A;ENSP00000355910:V1940A	ENSP00000305941:V1940A	V	-	2	0	USH2A	214312892	0.015000	0.18098	0.034000	0.17996	0.916000	0.54674	1.804000	0.38873	1.044000	0.40200	0.528000	0.53228	GTA		0.368	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		25	60	0	0	0	1	0	25	60				
VARS	7407	broad.mit.edu	37	6	31747573	31747573	+	Missense_Mutation	SNP	G	G	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:31747573G>C	ENST00000375663.3	-	27	3540	c.3100C>G	c.(3100-3102)Ctg>Gtg	p.L1034V	Y_RNA_ENST00000364685.1_RNA|VARS_ENST00000482996.1_5'Flank|VWA7_ENST00000447450.1_5'Flank|VWA7_ENST00000375686.3_5'Flank|VWA7_ENST00000467576.1_5'Flank|VWA7_ENST00000375688.4_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1034					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	ACCCCATTCAGTACAGGTTTC	0.622																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(3100-3102)Ctg>Gtg		valyl-tRNA synthetase	L-Valine(DB00161)						55.0	45.0	48.0					6																	31747573		1510	2708	4218	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31747573G>C	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.3100C>G	6.37:g.31747573G>C	ENSP00000364815:p.Leu1034Val						p.L1034V	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			27	3540	-			1034					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.3100C>G	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	9.487	1.099691	0.20552	.	.	ENSG00000204394	ENST00000375663	T	0.19250	2.16	5.29	5.29	0.74685	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.060570	0.64402	D	0.000003	T	0.09862	0.0242	L	0.50993	1.605	0.32124	N	0.587678	B	0.30361	0.277	B	0.28305	0.088	T	0.08166	-1.0735	10	0.56958	D	0.05	-12.1269	9.9582	0.41680	0.0924:0.0:0.9076:0.0	.	1034	P26640	SYVC_HUMAN	V	1034	ENSP00000364815:L1034V	ENSP00000364815:L1034V	L	-	1	2	VARS	31855552	1.000000	0.71417	0.956000	0.39512	0.339000	0.28857	2.540000	0.45727	2.497000	0.84241	0.455000	0.32223	CTG		0.622	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		5	40	0	0	0	1	0	5	40				
PHIP	55023	broad.mit.edu	37	6	79770385	79770385	+	Splice_Site	SNP	T	T	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:79770385T>A	ENST00000275034.4	-	5	507	c.340A>T	c.(340-342)Agc>Tgc	p.S114C		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	114					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATTTTCATACTTTTATTTGTG	0.333																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.e5+1		pleckstrin homology domain interacting protein							56.0	61.0	59.0					6																	79770385		2203	4299	6502	SO:0001630	splice_region_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79770385T>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.340+1A>T	6.37:g.79770385T>A							p.S114_splice	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	5	507	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	114					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Splice_Site	SNP	ENST00000275034.4	37	c.340_splice	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.962615	0.74016	.	.	ENSG00000146247	ENST00000275034	T	0.17691	2.26	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.25121	0.0610	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70716	0.97;0.97	T	0.02698	-1.1122	9	.	.	.	-11.7944	9.8669	0.41150	0.0:0.076:0.0:0.924	.	114;114	A7J992;Q8WWQ0	.;PHIP_HUMAN	C	114	ENSP00000275034:S114C	.	S	-	1	0	PHIP	79827104	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.499000	0.81566	2.245000	0.73994	0.482000	0.46254	AGC		0.333	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		Missense_Mutation	7	53	0	0	0	1	0	7	53				
CYP2C8	1558	broad.mit.edu	37	10	96802756	96802756	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:96802756T>C	ENST00000371270.3	-	7	1134	c.1040A>G	c.(1039-1041)tAc>tGc	p.Y347C	CYP2C8_ENST00000535898.1_Missense_Mutation_p.Y245C|CYP2C8_ENST00000539050.1_Missense_Mutation_p.Y261C	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	347					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	AGCATCAGTGTAAGGCATGTG	0.498																																						ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(1039-1041)tAc>tGc		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						265.0	204.0	225.0					10																	96802756		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96802756T>C	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1040A>G	10.37:g.96802756T>C	ENSP00000360317:p.Tyr347Cys					CYP2C8_ENST00000535898.1_Missense_Mutation_p.Y245C|CYP2C8_ENST00000539050.1_Missense_Mutation_p.Y261C	p.Y347C	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	7	1134	-		Colorectal(252;0.0397)	347					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.1040A>G	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.024167	0.35701	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.76186	-1.0;-1.0;-1.0	4.49	3.35	0.38373	.	0.078297	0.52532	U	0.000065	D	0.89667	0.6781	H	0.97806	4.08	0.35373	D	0.789196	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91557	0.5261	10	0.87932	D	0	.	8.09	0.30795	0.0:0.0984:0.0:0.9016	.	261;245;315;347	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	C	347;314;245;261	ENSP00000360317:Y347C;ENSP00000445062:Y245C;ENSP00000442343:Y261C	ENSP00000360317:Y347C	Y	-	2	0	CYP2C8	96792746	1.000000	0.71417	0.875000	0.34327	0.265000	0.26407	1.469000	0.35343	0.753000	0.32945	0.477000	0.44152	TAC		0.498	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		31	79	0	0	0	1	0	31	79				
PCDHA5	56143	broad.mit.edu	37	5	140201645	140201645	+	Silent	SNP	C	C	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:140201645C>T	ENST00000529859.1	+	1	285	c.285C>T	c.(283-285)tgC>tgT	p.C95C	PCDHA5_ENST00000378126.3_Silent_p.C95C|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.C95C|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	95	Cadherin 1. {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)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGCTGTGCCGGCGGAGGG	0.587																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(283-285)tgC>tgT									88.0	102.0	97.0					5																	140201645		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140201645C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.285C>T	5.37:g.140201645C>T						PCDHA5_ENST00000378126.3_Silent_p.C95C|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.C95C|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.C95C	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	285	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.285C>T	CCDS54917.1																																																																																				0.587	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		5	260	0	0	0	1	0	5	260				
OR1G1	8390	broad.mit.edu	37	17	3030696	3030696	+	Silent	SNP	A	A	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:3030696A>T	ENST00000328890.2	-	1	179	c.150T>A	c.(148-150)atT>atA	p.I50I		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	50					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GAGTGTCAGTAATGATGACTA	0.517																																					Colon(127;1481 1654 8243 19426 50557)	ENST00000328890.2																			0				kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						c.(148-150)atT>atA		olfactory receptor, family 1, subfamily G, member 1							113.0	100.0	105.0					17																	3030696		2203	4300	6503	SO:0001819	synonymous_variant	8390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3030696A>T	U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"""GPCR / Class A : Olfactory receptors"""	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.150T>A	17.37:g.3030696A>T							p.I50I	NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN			1	179	-			50					Q4VBM1|Q6IFL9|Q9UM76	Silent	SNP	ENST00000328890.2	37	c.150T>A	CCDS11020.1																																																																																				0.517	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2			35	98	0	0	0	1	0	35	98				
SLC25A17	10478	broad.mit.edu	37	22	41169988	41169988	+	Silent	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr22:41169988T>C	ENST00000435456.2	-	8	862	c.729A>G	c.(727-729)acA>acG	p.T243T	SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000402844.3_Silent_p.T161T|SLC25A17_ENST00000544408.1_Silent_p.T206T|SLC25A17_ENST00000542412.1_Silent_p.T170T	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	243					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						GACTTCCCAATGTTCTGTTTT	0.408																																						ENST00000402844.3																			0				central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						c.(481-483)acA>acG		solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17							121.0	111.0	115.0					22																	41169988		2203	4300	6503	SO:0001819	synonymous_variant	10478				fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding	g.chr22:41169988T>C	Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"""Solute carriers"""	10987	protein-coding gene	gene with protein product	"""peroxisomal membrane protein (34kD)"""	606795	"""solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"""			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.729A>G	22.37:g.41169988T>C						SLC25A17_ENST00000435456.2_Silent_p.T243T|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000542412.1_Silent_p.T170T|SLC25A17_ENST00000544408.1_Silent_p.T206T	p.T161T			O43808	PM34_HUMAN			4	1463	-			243					A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Silent	SNP	ENST00000435456.2	37	c.483A>G	CCDS14005.1																																																																																				0.408	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	NM_006358		9	42	0	0	0	1	0	9	42				
HUWE1	10075	broad.mit.edu	37	X	53578098	53578098	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chrX:53578098G>A	ENST00000342160.3	-	64	9606	c.9149C>T	c.(9148-9150)gCc>gTc	p.A3050V	HUWE1_ENST00000262854.6_Missense_Mutation_p.A3050V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3050					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTCTGAGCTGGCATTCTGTGC	0.552																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(9148-9150)gCc>gTc		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							115.0	100.0	105.0					X																	53578098		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53578098G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9149C>T	X.37:g.53578098G>A	ENSP00000340648:p.Ala3050Val					HUWE1_ENST00000262854.6_Missense_Mutation_p.A3050V	p.A3050V			Q7Z6Z7	HUWE1_HUMAN			64	9606	-			3050					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.9149C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346127	0.61073	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.48836	0.8;0.8	5.88	5.88	0.94601	.	0.284900	0.34853	N	0.003637	T	0.44456	0.1294	L	0.42744	1.35	0.37919	D	0.931625	B;B	0.30634	0.166;0.288	B;B	0.29598	0.104;0.063	T	0.48019	-0.9071	10	0.54805	T	0.06	.	17.8502	0.88744	0.0:0.0:1.0:0.0	.	3050;3034	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	V	3050	ENSP00000340648:A3050V;ENSP00000262854:A3050V	ENSP00000262854:A3050V	A	-	2	0	HUWE1	53594823	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.957000	0.70323	2.489000	0.83994	0.600000	0.82982	GCC		0.552	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		3	42	0	0	0	1	0	3	42				
NT5M	56953	broad.mit.edu	37	17	17250218	17250218	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:17250218C>T	ENST00000389022.4	+	5	860	c.644C>T	c.(643-645)gCg>gTg	p.A215V	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	215					dephosphorylation (GO:0016311)|DNA replication (GO:0006260)|dUMP catabolic process (GO:0046079)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						CACTCGTGGGCGGACGACTGG	0.692																																						ENST00000389022.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(643-645)gCg>gTg		5',3'-nucleotidase, mitochondrial							37.0	44.0	41.0					17																	17250218		2203	4300	6503	SO:0001583	missense	56953				DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding	g.chr17:17250218C>T	AF210652	CCDS32581.1	17p11.2	2007-08-01	2002-05-23		ENSG00000205309	ENSG00000205309	3.1.3.5		15769	protein-coding gene	gene with protein product		605292	"""5' nucleotidase, mitochondrial"""			10899995	Standard	XM_005256731		Approved	dNT-2, dNT2, mdN	uc002grf.3	Q9NPB1	OTTHUMG00000059277	ENST00000389022.4:c.644C>T	17.37:g.17250218C>T	ENSP00000373674:p.Ala215Val					NT5M_ENST00000582909.1_3'UTR	p.A215V	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN			5	860	+			215						Missense_Mutation	SNP	ENST00000389022.4	37	c.644C>T	CCDS32581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.90|13.90	2.373759|2.373759	0.42105|0.42105	.|.	.|.	ENSG00000205309|ENSG00000205309	ENST00000389022|ENST00000446264	T|.	0.46063|.	0.88|.	5.79|5.79	4.83|4.83	0.62350|0.62350	HAD-like domain (2);|.	.|0.046090	.|0.85682	.|D	.|0.000000	T|T	0.28400|0.28400	0.0702|0.0702	N|N	0.22421|0.22421	0.69|0.69	0.24219|0.24219	N|N	0.995444|0.995444	P;P|B	0.43826|0.18741	0.818;0.818|0.03	B;B|B	0.26094|0.12156	0.066;0.066|0.007	T|T	0.23619|0.23619	-1.0183|-1.0183	9|9	0.48119|0.87932	T|D	0.1|0	-11.509|-11.509	8.6278|8.6278	0.33899|0.33899	0.1507:0.7724:0.0:0.0769|0.1507:0.7724:0.0:0.0769	.|.	221;215|214	Q2I378;Q9NPB1|F6S3X3	.;NT5M_HUMAN|.	V|W	215|214	ENSP00000373674:A215V|.	ENSP00000373674:A215V|ENSP00000390695:R214W	A|R	+|+	2|1	0|2	NT5M|NT5M	17190943|17190943	0.285000|0.285000	0.24296|0.24296	0.897000|0.897000	0.35233|0.35233	0.154000|0.154000	0.21943|0.21943	1.325000|1.325000	0.33724|0.33724	1.449000|1.449000	0.47699|0.47699	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.692	NT5M-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446045.1			24	57	0	0	0	1	0	24	57				
HMCN1	83872	broad.mit.edu	37	1	186099650	186099650	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:186099650T>C	ENST00000271588.4	+	85	13280	c.13051T>C	c.(13051-13053)Ttc>Ctc	p.F4351L	HMCN1_ENST00000367492.2_Missense_Mutation_p.F4351L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4351	Ig-like C2-type 43.				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						ACCTCCAGTCTTCAAAGGTGA	0.393																																						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.(13051-13053)Ttc>Ctc		hemicentin 1							69.0	68.0	69.0					1																	186099650		2203	4299	6502	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186099650T>C	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.13051T>C	1.37:g.186099650T>C	ENSP00000271588:p.Phe4351Leu					HMCN1_ENST00000367492.2_Missense_Mutation_p.F4351L	p.F4351L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			85	13280	+			4351			Ig-like C2-type 43.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.13051T>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.924325	0.52653	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.73575	1.44;-0.76	5.58	5.58	0.84498	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.092657	0.85682	D	0.000000	T	0.71375	0.3332	N	0.11789	0.175	0.38385	D	0.945231	D	0.56287	0.975	D	0.66196	0.942	T	0.73600	-0.3931	10	0.35671	T	0.21	.	10.4083	0.44278	0.0:0.0731:0.0:0.9269	.	4351	Q96RW7	HMCN1_HUMAN	L	4351	ENSP00000271588:F4351L;ENSP00000356462:F4351L	ENSP00000271588:F4351L	F	+	1	0	HMCN1	184366273	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.974000	0.63771	2.250000	0.74265	0.482000	0.46254	TTC		0.393	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		20	57	0	0	0	1	0	20	57				
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496		TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180								p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.E180G(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(538-540)gAa>gGa																																						SO:0001583	missense	0							g.chr20:29633900A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.539A>G	20.37:g.29633900A>G	ENSP00000278882:p.Glu180Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G	p.E180G							9	919	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.539A>G		.	.	.	.	.	.	.	.	.	.	a	9.128	1.010735	0.19277	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.21697	N	0.999586	.	.	.	.	.	.	T	0.36625	-0.9740	5	0.87932	D	0	.	7.2988	0.26408	1.0:0.0:0.0:0.0	rs60081496	.	.	.	G	180	.	ENSP00000278882:E180G	E	+	2	0	FRG1B	28247561	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.560000	0.60802	0.995000	0.38917	0.411000	0.27672	GAA		0.264	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	48	0	0	0	1	0	3	48				
DDX3Y	8653	broad.mit.edu	37	Y	15028970	15028970	+	Missense_Mutation	SNP	A	A	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chrY:15028970A>T	ENST00000336079.3	+	15	1867	c.1761A>T	c.(1759-1761)aaA>aaT	p.K587N	DDX3Y_ENST00000360160.4_Missense_Mutation_p.K587N	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	587						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						GACGATCTAAAAGGTACACAC	0.393																																						ENST00000336079.3																			0				kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(1759-1761)aaA>aaT		DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked							37.0	37.0	37.0					Y																	15028970		586	1896	2482	SO:0001583	missense	8653					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding	g.chrY:15028970A>T	AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"""DEAD-boxes"""	2699	protein-coding gene	gene with protein product		400010	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"""	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.1761A>T	Y.37:g.15028970A>T	ENSP00000336725:p.Lys587Asn					DDX3Y_ENST00000360160.4_Missense_Mutation_p.K587N	p.K587N	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN			15	1867	+			587					B4DK29|B4DXX7|Q8IYV7	Missense_Mutation	SNP	ENST00000336079.3	37	c.1761A>T	CCDS14782.1																																																																																				0.393	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088407.1	NM_004660		3	3	0	0	0	1	0	3	3				
TEKT3	64518	broad.mit.edu	37	17	15234581	15234581	+	Missense_Mutation	SNP	G	G	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:15234581G>C	ENST00000395930.1	-	3	508	c.322C>G	c.(322-324)Caa>Gaa	p.Q108E	TEKT3_ENST00000338696.2_Missense_Mutation_p.Q108E	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	108					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TTGGACTCTTGATAGTTGGTT	0.423																																						ENST00000395930.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23						c.(322-324)Caa>Gaa		tektin 3							251.0	229.0	236.0					17																	15234581		2203	4300	6503	SO:0001583	missense	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15234581G>C	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.322C>G	17.37:g.15234581G>C	ENSP00000379263:p.Gln108Glu					TEKT3_ENST00000338696.2_Missense_Mutation_p.Q108E	p.Q108E	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	3	508	-			108					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	c.322C>G	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.616859	0.28801	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000536146;ENST00000539316	T;T;T;T	0.29142	4.32;4.32;4.32;1.58	5.4	3.09	0.35607	.	0.383494	0.33327	N	0.005029	T	0.25827	0.0629	L	0.59436	1.845	0.25404	N	0.988413	B	0.10296	0.003	B	0.16722	0.016	T	0.30090	-0.9990	10	0.06757	T	0.87	-0.3753	11.9293	0.52837	0.0:0.0:0.4198:0.5802	.	108	Q9BXF9	TEKT3_HUMAN	E	108	ENSP00000379263:Q108E;ENSP00000343995:Q108E;ENSP00000446111:Q108E;ENSP00000439713:Q108E	ENSP00000343995:Q108E	Q	-	1	0	TEKT3	15175306	1.000000	0.71417	0.026000	0.17262	0.561000	0.35649	2.476000	0.45171	1.375000	0.46248	0.655000	0.94253	CAA		0.423	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		17	162	0	0	0	1	0	17	162				
EPHA7	2045	broad.mit.edu	37	6	94066494	94066494	+	Missense_Mutation	SNP	G	G	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:94066494G>C	ENST00000369303.4	-	5	1449	c.1265C>G	c.(1264-1266)tCt>tGt	p.S422C		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	422	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCTTAAGTCAGAAACTCCATT	0.433																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(1264-1266)tCt>tGt		EPH receptor A7							115.0	114.0	114.0					6																	94066494		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94066494G>C	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1265C>G	6.37:g.94066494G>C	ENSP00000358309:p.Ser422Cys						p.S422C	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	5	1449	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	422			Fibronectin type-III 1.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.1265C>G	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625177	0.87560	.	.	ENSG00000135333	ENST00000369303	T	0.54675	0.56	5.85	5.85	0.93711	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055071	0.85682	D	0.000000	T	0.77219	0.4098	M	0.91561	3.22	0.80722	D	1	D;D;D	0.89917	0.969;1.0;1.0	P;D;D	0.77557	0.627;0.983;0.99	T	0.81413	-0.0944	10	0.87932	D	0	.	20.1606	0.98132	0.0:0.0:1.0:0.0	.	422;422;422	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	C	422	ENSP00000358309:S422C	ENSP00000358309:S422C	S	-	2	0	EPHA7	94123215	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.772000	0.95346	0.650000	0.86243	TCT		0.433	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			14	59	0	0	0	1	0	14	59				
FAM47A	158724	broad.mit.edu	37	X	34149502	34149502	+	Nonsense_Mutation	SNP	A	A	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chrX:34149502A>T	ENST00000346193.3	-	1	945	c.894T>A	c.(892-894)tgT>tgA	p.C298*		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	298										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGAATTTCCCACAAGGGTATT	0.592																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(892-894)tgT>tgA		family with sequence similarity 47, member A							22.0	25.0	24.0					X																	34149502		2199	4295	6494	SO:0001587	stop_gained	158724							g.chrX:34149502A>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.894T>A	X.37:g.34149502A>T	ENSP00000345029:p.Cys298*						p.C298*	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	945	-			298					A8K8I9|Q8TAA0	Nonsense_Mutation	SNP	ENST00000346193.3	37	c.894T>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	a	14.51	2.555640	0.45487	.	.	ENSG00000185448	ENST00000346193	.	.	.	0.13	0.13	0.14746	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	.	.	.	.	.	.	.	X	298	.	ENSP00000345029:C298X	C	-	3	2	FAM47A	34059423	0.739000	0.28196	0.048000	0.18961	0.048000	0.14542	0.456000	0.21859	0.146000	0.19002	0.144000	0.16011	TGT		0.592	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		16	5	0	0	0	1	0	16	5				
ZRSR1	7310	broad.mit.edu	37	5	112227407	112227407	+	Missense_Mutation	SNP	A	A	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:112227407A>G	ENST00000391338.1	+	1	95	c.71A>G	c.(70-72)tAc>tGc	p.Y24C	REEP5_ENST00000545426.1_Intron|REEP5_ENST00000474542.2_Intron|CTC-487M23.5_ENST00000602872.1_RNA|CTC-487M23.8_ENST00000512790.1_3'UTR|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000379638.4_Intron|CTC-487M23.8_ENST00000506997.1_3'UTR	NM_001204199.1	NP_001191128.1	Q15695	U2AFL_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1	24						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|skin(1)|stomach(2)	4						CACAAAAAGTACAGGGCCGCC	0.512																																						ENST00000391338.1																			0				breast(1)|skin(1)|stomach(2)	4						c.(70-72)tAc>tGc		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1																																				SO:0001583	missense	7310							g.chr5:112227407A>G	D49676		5q22.2	2013-02-12	2006-09-26	2006-09-26	ENSG00000212643	ENSG00000212643		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	12456	protein-coding gene	gene with protein product	"""U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1"""	601079	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein-like"", ""U2(RNU2) small nuclear RNA auxillary factor 1-like 1"", ""U2 small nuclear RNA auxillary factor 1-like 1"""	U2AFBPL, U2AF1P, U2AF1L1		7956352	Standard	NG_005419		Approved	U2AF1-RS1, U2AF1RS1	uc021ycm.1	Q15695	OTTHUMG00000163143	ENST00000391338.1:c.71A>G	5.37:g.112227407A>G	ENSP00000375133:p.Tyr24Cys					REEP5_ENST00000474542.2_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000504247.1_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000379638.4_Intron	p.Y24C	NM_001204199.1	NP_001191128.1					1	95	+								B2R901|Q13570|Q2M3R8	Missense_Mutation	SNP	ENST00000391338.1	37	c.71A>G		.	.	.	.	.	.	.	.	.	.	A	13.45	2.241136	0.39598	.	.	ENSG00000212643	ENST00000391338	.	.	.	1.64	0.46	0.16684	.	0.307559	0.37219	N	0.002187	T	0.15262	0.0368	.	.	.	0.18873	N	0.999984	D	0.53745	0.962	B	0.35607	0.206	T	0.23904	-1.0175	8	0.54805	T	0.06	.	3.2086	0.06675	0.7537:0.0:0.2463:0.0	.	24	Q15695	U2AFL_HUMAN	C	24	.	ENSP00000375133:Y24C	Y	+	2	0	ZRSR1	112255306	0.998000	0.40836	0.052000	0.19188	0.827000	0.46813	1.401000	0.34589	0.116000	0.18110	0.383000	0.25322	TAC		0.512	ZRSR1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371801.1	NM_005083		7	35	0	0	0	1	0	7	35				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	28	0	0	0	1	0	3	28				
FGF23	8074	broad.mit.edu	37	12	4479847	4479847	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr12:4479847G>A	ENST00000237837.1	-	3	563	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	140					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R140W(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CTCTTCGCCCGGCCCAGACTG	0.577																																						ENST00000237837.1																			1	Substitution - Missense(1)	p.R140W(1)	ovary(1)	NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(418-420)Cgg>Tgg		fibroblast growth factor 23							99.0	99.0	99.0					12																	4479847		2203	4300	6503	SO:0001583	missense	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479847G>A	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.418C>T	12.37:g.4479847G>A	ENSP00000237837:p.Arg140Trp						p.R140W	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	563	-			140					Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	c.418C>T	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507600	0.44558	.	.	ENSG00000118972	ENST00000237837	D	0.88354	-2.37	4.88	2.83	0.33086	.	0.283234	0.40908	N	0.001000	D	0.90724	0.7089	M	0.78637	2.42	0.19300	N	0.999971	D	0.69078	0.997	P	0.54590	0.756	D	0.83433	0.0039	10	0.72032	D	0.01	-7.1689	7.5214	0.27631	0.0:0.1252:0.4131:0.4617	.	140	Q9GZV9	FGF23_HUMAN	W	140	ENSP00000237837:R140W	ENSP00000237837:R140W	R	-	1	2	FGF23	4350108	0.994000	0.37717	0.709000	0.30452	0.253000	0.25986	3.197000	0.51028	1.229000	0.43630	0.549000	0.68633	CGG		0.577	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			50	153	0	0	0	1	0	50	153				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	71	0	0	0	1	0	4	71				
ZHX1	11244	broad.mit.edu	37	8	124266782	124266782	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr8:124266782C>T	ENST00000522655.1	-	3	1945	c.1405G>A	c.(1405-1407)Gca>Aca	p.A469T	ZHX1_ENST00000395571.3_Missense_Mutation_p.A469T|ZHX1_ENST00000297857.2_Missense_Mutation_p.A469T|ZHX1_ENST00000522595.1_5'Flank|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	469	Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTCTTTTTTGCCCGAATGCCA	0.388																																						ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1405-1407)Gca>Aca		zinc fingers and homeoboxes 1							138.0	147.0	144.0					8																	124266782		2203	4300	6503	SO:0001583	missense	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124266782C>T	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1405G>A	8.37:g.124266782C>T	ENSP00000428821:p.Ala469Thr					ZHX1_ENST00000297857.2_Missense_Mutation_p.A469T|ZHX1_ENST00000522655.1_Missense_Mutation_p.A469T|ZHX1-C8ORF76_ENST00000357082.4_Intron	p.A469T	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2022	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		469			Required for interaction with NFYA.		Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	c.1405G>A	CCDS6342.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.698296	0.00725	.	.	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	D;D;D	0.94650	-3.48;-3.48;-3.48	5.27	5.27	0.74061	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.241130	0.43416	D	0.000580	D	0.87305	0.6144	.	.	.	0.48341	D	0.999634	B	0.17268	0.021	B	0.17722	0.019	T	0.79983	-0.1573	9	0.12103	T	0.63	-15.5452	8.432	0.32764	0.1548:0.7683:0.0:0.0769	.	469	Q9UKY1	ZHX1_HUMAN	T	469	ENSP00000297857:A469T;ENSP00000378938:A469T;ENSP00000428821:A469T	ENSP00000297857:A469T	A	-	1	0	ZHX1	124335963	0.998000	0.40836	0.988000	0.46212	0.345000	0.29048	3.074000	0.50065	2.738000	0.93877	0.555000	0.69702	GCA		0.388	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			4	155	0	0	0	1	0	4	155				
ZNF365	22891	broad.mit.edu	37	10	64403689	64403689	+	Missense_Mutation	SNP	T	T	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:64403689T>A	ENST00000395251.1	+	2	338	c.4T>A	c.(4-6)Tct>Act	p.S2T	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Missense_Mutation_p.S2T	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	2										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TTAATTAATGTCTGCGCTGGG	0.453																																						ENST00000395251.1																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(4-6)Tct>Act		zinc finger protein 365							161.0	145.0	150.0					10																	64403689		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64403689T>A	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.4T>A	10.37:g.64403689T>A	ENSP00000378672:p.Ser2Thr					ZNF365_ENST00000395249.1_Missense_Mutation_p.S2T|ZNF365_ENST00000410046.3_Intron	p.S2T	NM_199452.3	NP_955524.3	Q70YC4	TALAN_HUMAN			2	338	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		2						Missense_Mutation	SNP	ENST00000395251.1	37	c.4T>A	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.873153	0.33069	.	.	ENSG00000138311	ENST00000395251;ENST00000395249	T	0.53640	0.61	4.63	-0.575	0.11734	.	.	.	.	.	T	0.23532	0.0569	N	0.08118	0	0.09310	N	1	P	0.36392	0.551	B	0.38842	0.283	T	0.18681	-1.0329	9	0.87932	D	0	.	0.7104	0.00923	0.1643:0.1854:0.1706:0.4797	.	2	Q70YC4	TALAN_HUMAN	T	2	ENSP00000378672:S2T	ENSP00000345300:S2T	S	+	1	0	ZNF365	64073695	0.006000	0.16342	0.036000	0.18154	0.640000	0.38277	0.502000	0.22594	-0.087000	0.12528	0.533000	0.62120	TCT		0.453	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951		14	75	0	0	0	1	0	14	75				
NFATC1	4772	broad.mit.edu	37	18	77208864	77208864	+	Missense_Mutation	SNP	C	C	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr18:77208864C>G	ENST00000427363.2	+	4	1469	c.1469C>G	c.(1468-1470)gCc>gGc	p.A490G	NFATC1_ENST00000545796.1_Missense_Mutation_p.A18G|NFATC1_ENST00000253506.5_Missense_Mutation_p.A490G|NFATC1_ENST00000329101.4_Missense_Mutation_p.A477G|NFATC1_ENST00000318065.5_Missense_Mutation_p.A477G|NFATC1_ENST00000592223.1_Missense_Mutation_p.A477G|NFATC1_ENST00000587635.1_Missense_Mutation_p.A490G|NFATC1_ENST00000542384.1_Missense_Mutation_p.A490G|NFATC1_ENST00000591814.1_Missense_Mutation_p.A490G|NFATC1_ENST00000586434.1_Missense_Mutation_p.A477G|NFATC1_ENST00000397790.2_Missense_Mutation_p.A18G			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	490	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CGCCCGCACGCCTTCTACCAG	0.612																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(1468-1470)gCc>gGc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							82.0	71.0	75.0					18																	77208864		2203	4300	6503	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77208864C>G	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1469C>G	18.37:g.77208864C>G	ENSP00000389377:p.Ala490Gly					NFATC1_ENST00000318065.5_Missense_Mutation_p.A477G|NFATC1_ENST00000397790.2_Missense_Mutation_p.A18G|NFATC1_ENST00000587635.1_Missense_Mutation_p.A490G|NFATC1_ENST00000592223.1_Missense_Mutation_p.A477G|NFATC1_ENST00000591814.1_Missense_Mutation_p.A490G|NFATC1_ENST00000586434.1_Missense_Mutation_p.A477G|NFATC1_ENST00000329101.4_Missense_Mutation_p.A477G|NFATC1_ENST00000545796.1_Missense_Mutation_p.A18G|NFATC1_ENST00000542384.1_Missense_Mutation_p.A490G|NFATC1_ENST00000427363.2_Missense_Mutation_p.A490G	p.A490G	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	4	1838	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	490			RHD.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.1469C>G		.	.	.	.	.	.	.	.	.	.	C	21.5	4.154325	0.78114	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000397790;ENST00000542384;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.31	4.31	0.51392	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.114877	0.64402	D	0.000014	T	0.61476	0.2350	L	0.49778	1.585	0.58432	D	0.999999	D;D;D;D;D;D;D	0.64830	0.994;0.994;0.973;0.993;0.993;0.989;0.973	P;P;P;P;P;D;P	0.63033	0.876;0.876;0.815;0.891;0.891;0.91;0.815	T	0.66614	-0.5879	10	0.87932	D	0	-30.9756	16.9798	0.86324	0.0:1.0:0.0:0.0	.	477;477;490;490;490;477;490	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	G	490;490;18;490;477;18;477;454	ENSP00000253506:A490G;ENSP00000380892:A18G;ENSP00000442435:A490G;ENSP00000327850:A477G;ENSP00000439992:A18G	ENSP00000253506:A490G	A	+	2	0	NFATC1	75309852	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	5.494000	0.66905	2.230000	0.72887	0.561000	0.74099	GCC		0.612	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		31	63	0	0	0	1	0	31	63				
TAAR9	134860	broad.mit.edu	37	6	132860433	132860433	+	RNA	SNP	G	G	A	rs370306299		TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:132860433G>A	ENST00000434551.1	+	0	1005					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		GGACTGATTCGTCAACAACTA	0.328													g|||	1	0.000199681	0.0	0.0	5008	,	,		19283	0.001		0.0	False		,,,				2504	0.0				Colon(10;433 445 15992 45047 47213)	ENST00000434551.1																			0													trace amine associated receptor 9 (gene/pseudogene)							51.0	45.0	47.0					6																	132860433		1830	4084	5914			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132860433G>A	AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132860433G>A								NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	0	1005	+	Breast(56;0.112)								RNA	SNP	ENST00000434551.1	37																																																																																						0.328	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		7	19	0	0	0	1	0	7	19				
DOCK2	1794	broad.mit.edu	37	5	169508849	169508849	+	Missense_Mutation	SNP	T	T	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:169508849T>A	ENST00000256935.8	+	51	5371	c.5291T>A	c.(5290-5292)cTg>cAg	p.L1764Q	DOCK2_ENST00000520908.1_Missense_Mutation_p.L1256Q|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.L825Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1764					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTCCAGCCCTGGCGCTCTCA	0.627																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(5290-5292)cTg>cAg		dedicator of cytokinesis 2							60.0	52.0	55.0					5																	169508849		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169508849T>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5291T>A	5.37:g.169508849T>A	ENSP00000256935:p.Leu1764Gln					DOCK2_ENST00000520908.1_Missense_Mutation_p.L1256Q|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.L825Q	p.L1764Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		51	5371	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1764					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.5291T>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.786268	0.49997	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.10477	3.52;3.15;2.87	4.84	4.84	0.62591	.	0.125717	0.36519	N	0.002553	T	0.14657	0.0354	N	0.19112	0.55	0.34676	D	0.724206	D;D;D	0.76494	0.963;0.999;0.963	P;D;P	0.63488	0.692;0.915;0.692	T	0.20075	-1.0286	10	0.12766	T	0.61	.	12.6806	0.56920	0.0:0.0:0.0:1.0	.	1256;320;1764	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	Q	1764;1256;825	ENSP00000256935:L1764Q;ENSP00000429283:L1256Q;ENSP00000438827:L825Q	ENSP00000256935:L1764Q	L	+	2	0	DOCK2	169441427	1.000000	0.71417	0.991000	0.47740	0.099000	0.18886	4.161000	0.58170	1.919000	0.55581	0.533000	0.62120	CTG		0.627	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		17	43	0	0	0	1	0	17	43				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	69	0	0	0	1	0	6	69				
RPS11	6205	broad.mit.edu	37	19	50000530	50000530	+	Missense_Mutation	SNP	A	A	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr19:50000530A>C	ENST00000270625.2	+	2	178	c.95A>C	c.(94-96)aAg>aCg	p.K32T	RPS11_ENST00000599561.1_Missense_Mutation_p.K32T|RPS11_ENST00000594493.1_5'UTR|RPS11_ENST00000596873.1_Missense_Mutation_p.K32T|SNORD35B_ENST00000363660.1_RNA	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	32					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		GGCAAGGAGAAGCTCCCGCGG	0.532																																						ENST00000270625.2																			0				kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7						c.(94-96)aAg>aCg		ribosomal protein S11							61.0	63.0	62.0					19																	50000530		2203	4300	6503	SO:0001583	missense	6205				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome	g.chr19:50000530A>C	AB007152	CCDS12769.1	19q13.3	2011-08-03			ENSG00000142534	ENSG00000142534		"""S ribosomal proteins"""	10384	protein-coding gene	gene with protein product	"""40S ribosomal protein S11"""	180471				1577483, 9582194	Standard	NM_001015		Approved	S11	uc002pob.2	P62280		ENST00000270625.2:c.95A>C	19.37:g.50000530A>C	ENSP00000270625:p.Lys32Thr					RPS11_ENST00000599561.1_Missense_Mutation_p.K32T|RPS11_ENST00000596873.1_Missense_Mutation_p.K32T|RPS11_ENST00000594493.1_5'UTR	p.K32T	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)	2	178	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	32					B2R4F5|P04643|Q498Y6|Q6IRY0	Missense_Mutation	SNP	ENST00000270625.2	37	c.95A>C	CCDS12769.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981631	0.74474	.	.	ENSG00000142534	ENST00000270625	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.62600	0.2441	M	0.71920	2.185	0.80722	D	1	B	0.21071	0.051	B	0.24848	0.056	T	0.58758	-0.7580	8	.	.	.	-22.9283	14.2765	0.66184	1.0:0.0:0.0:0.0	.	32	P62280	RS11_HUMAN	T	32	.	.	K	+	2	0	RPS11	54692342	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.029000	0.93718	2.254000	0.74563	0.460000	0.39030	AAG		0.532	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465288.1	NM_001015		16	63	0	0	0	1	0	16	63				
BOD1L1	259282	broad.mit.edu	37	4	13606062	13606062	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr4:13606062C>T	ENST00000040738.5	-	10	2597	c.2462G>A	c.(2461-2463)cGt>cAt	p.R821H		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	821	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										GTTTTCTTTACGAACATTCTC	0.323																																						ENST00000040738.5																			0											c.(2461-2463)cGt>cAt		biorientation of chromosomes in cell division 1-like 1							77.0	69.0	72.0					4																	13606062		2202	4299	6501	SO:0001583	missense	259282						DNA binding	g.chr4:13606062C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2462G>A	4.37:g.13606062C>T	ENSP00000040738:p.Arg821His						p.R821H	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	2597	-			821			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.2462G>A	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546067	0.65198	.	.	ENSG00000038219	ENST00000040738	T	0.17691	2.26	5.16	5.16	0.70880	.	0.000000	0.44097	D	0.000500	T	0.27419	0.0673	M	0.63843	1.955	0.34853	D	0.741848	D	0.57899	0.981	P	0.50659	0.647	T	0.39860	-0.9593	10	0.56958	D	0.05	-5.8402	12.0692	0.53607	0.0:0.9206:0.0:0.0794	.	821	Q8NFC6	BOD1L_HUMAN	H	821	ENSP00000040738:R821H	ENSP00000040738:R821H	R	-	2	0	BOD1L	13215160	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	2.587000	0.46128	2.401000	0.81631	0.557000	0.71058	CGT		0.323	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		3	18	0	0	0	1	0	3	18				
ATXN2	6311	broad.mit.edu	37	12	111954061	111954061	+	Silent	SNP	C	C	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr12:111954061C>A	ENST00000377617.3	-	10	1913	c.1752G>T	c.(1750-1752)ccG>ccT	p.P584P	ATXN2_ENST00000535949.1_Silent_p.P295P|ATXN2_ENST00000608853.1_Silent_p.P424P|ATXN2_ENST00000389153.4_Silent_p.P319P|ATXN2_ENST00000542287.2_Silent_p.P319P|ATXN2_ENST00000550104.1_Silent_p.P584P	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	584	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GCCTGGAGGGCGGCCGTGTAG	0.637																																						ENST00000377617.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1750-1752)ccG>ccT		ataxin 2							34.0	37.0	36.0					12																	111954061		2203	4300	6503	SO:0001819	synonymous_variant	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111954061C>A	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.1752G>T	12.37:g.111954061C>A						ATXN2_ENST00000389153.4_Silent_p.P319P|ATXN2_ENST00000542287.2_Silent_p.P319P|ATXN2_ENST00000535949.1_Silent_p.P295P|ATXN2_ENST00000550104.1_Silent_p.P584P	p.P584P	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN			10	1913	-			584			Pro-rich.		A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	c.1752G>T	CCDS31902.1																																																																																				0.637	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		8	26	1	0	0.00448238	1	0.00460689	8	26				
SLAMF6	114836	broad.mit.edu	37	1	160466070	160466070	+	Missense_Mutation	SNP	A	A	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:160466070A>T	ENST00000368057.3	-	2	223	c.163T>A	c.(163-165)Tgg>Agg	p.W55R	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368059.3_Missense_Mutation_p.W55R			Q96DU3	SLAF6_HUMAN	SLAM family member 6	55	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TTGAAAAGCCAAGTGATGAAG	0.463																																						ENST00000368059.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22						c.(163-165)Tgg>Agg		SLAM family member 6							252.0	235.0	241.0					1																	160466070		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160466070A>T	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.163T>A	1.37:g.160466070A>T	ENSP00000357036:p.Trp55Arg					SLAMF6_ENST00000368057.3_Missense_Mutation_p.W55R|SLAMF6_ENST00000368055.1_Intron	p.W55R	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		2	232	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		55					A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.163T>A	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.765625	0.49574	.	.	ENSG00000162739	ENST00000368059;ENST00000368057	D;D	0.84370	-1.84;-1.84	4.95	3.8	0.43715	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90803	0.7112	M	0.93420	3.415	0.27400	N	0.954878	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85460	0.1166	10	0.72032	D	0.01	-13.98	8.5733	0.33583	0.8048:0.1952:0.0:0.0	.	55;55	Q96DU3;B2R8X8	SLAF6_HUMAN;.	R	55	ENSP00000357038:W55R;ENSP00000357036:W55R	ENSP00000357036:W55R	W	-	1	0	SLAMF6	158732694	0.941000	0.31946	0.127000	0.21898	0.044000	0.14063	2.799000	0.47892	0.888000	0.36160	0.533000	0.62120	TGG		0.463	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		59	168	0	0	0	1	0	59	168				
TENM2	57451	broad.mit.edu	37	5	167489162	167489162	+	Silent	SNP	A	A	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:167489162A>G	ENST00000518659.1	+	7	1446	c.1407A>G	c.(1405-1407)tcA>tcG	p.S469S	TENM2_ENST00000545108.1_Silent_p.S469S|TENM2_ENST00000520394.1_Silent_p.S237S|TENM2_ENST00000519204.1_Silent_p.S348S|TENM2_ENST00000403607.2_Silent_p.S302S	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	469					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TTTGGAGGTCACAAATTCACA	0.498																																						ENST00000519204.1																			0											c.(1042-1044)tcA>tcG		teneurin transmembrane protein 2							118.0	118.0	118.0					5																	167489162		1895	4119	6014	SO:0001819	synonymous_variant	57451							g.chr5:167489162A>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1407A>G	5.37:g.167489162A>G						TENM2_ENST00000545108.1_Silent_p.S469S|TENM2_ENST00000518659.1_Silent_p.S469S|TENM2_ENST00000403607.2_Silent_p.S302S|TENM2_ENST00000520394.1_Silent_p.S237S	p.S348S							6	1162	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.1044A>G																																																																																					0.498	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		24	61	0	0	0	1	0	24	61				
ZNF462	58499	broad.mit.edu	37	9	109691723	109691723	+	Missense_Mutation	SNP	C	C	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr9:109691723C>G	ENST00000277225.5	+	3	5819	c.5530C>G	c.(5530-5532)Ctc>Gtc	p.L1844V	ZNF462_ENST00000457913.1_Missense_Mutation_p.L1844V|ZNF462_ENST00000441147.2_Missense_Mutation_p.L689V			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1844					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AATCGAGTGGCTCCCATTCCG	0.522																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5530-5532)Ctc>Gtc		zinc finger protein 462							99.0	73.0	82.0					9																	109691723		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691723C>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5530C>G	9.37:g.109691723C>G	ENSP00000277225:p.Leu1844Val					ZNF462_ENST00000457913.1_Missense_Mutation_p.L1844V|ZNF462_ENST00000441147.2_Missense_Mutation_p.L689V	p.L1844V			Q96JM2	ZN462_HUMAN			3	5819	+			1844					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.5530C>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429055	0.43122	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.06218	3.33;3.57;3.72;3.73	5.92	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.14184	0.0343	N	0.24115	0.695	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.78314	0.991;0.991	T	0.02821	-1.1106	10	0.52906	T	0.07	.	15.988	0.80176	0.0:0.9255:0.0:0.0745	.	1844;1844	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	V	1844;1844;727;689	ENSP00000277225:L1844V;ENSP00000414570:L1844V;ENSP00000363818:L727V;ENSP00000397306:L689V	ENSP00000277225:L1844V	L	+	1	0	ZNF462	108731544	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.005000	0.49521	2.813000	0.96785	0.561000	0.74099	CTC		0.522	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		33	58	0	0	0	1	0	33	58				
NXPE1	120400	broad.mit.edu	37	11	114401240	114401240	+	Missense_Mutation	SNP	A	A	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr11:114401240A>T	ENST00000424269.1	-	2	489	c.490T>A	c.(490-492)Tac>Aac	p.Y164N	NXPE1_ENST00000536312.1_Missense_Mutation_p.Y164N|NXPE1_ENST00000251921.2_Missense_Mutation_p.Y22N|NXPE1_ENST00000536271.1_5'Flank			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	164						extracellular region (GO:0005576)											CTGACCAGGTAGGTGCCATTG	0.587																																						ENST00000536312.1																			0											c.(490-492)Tac>Aac		neurexophilin and PC-esterase domain family, member 1							80.0	86.0	84.0					11																	114401240		2201	4296	6497	SO:0001583	missense	120400							g.chr11:114401240A>T	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.490T>A	11.37:g.114401240A>T	ENSP00000411690:p.Tyr164Asn					NXPE1_ENST00000251921.2_Missense_Mutation_p.Y22N|NXPE1_ENST00000424269.1_Missense_Mutation_p.Y164N	p.Y164N							6	1382	-								B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.490T>A		.	.	.	.	.	.	.	.	.	.	A	13.79	2.342585	0.41498	.	.	ENSG00000095110	ENST00000251921;ENST00000424269;ENST00000536312	T;T;D	0.85258	0.51;0.2;-1.96	4.52	3.38	0.38709	.	0.000000	0.51477	D	0.000094	D	0.93539	0.7938	H	0.95114	3.625	0.36035	D	0.839658	D	0.89917	1.0	D	0.87578	0.998	D	0.94614	0.7807	10	0.87932	D	0	.	8.8038	0.34925	0.9059:0.0:0.0941:0.0	.	164	F5H6W7	.	N	22;164;164	ENSP00000251921:Y22N;ENSP00000411690:Y164N;ENSP00000442984:Y164N	ENSP00000251921:Y22N	Y	-	1	0	FAM55A	113906450	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	4.400000	0.59709	0.822000	0.34565	0.533000	0.62120	TAC		0.587	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		27	60	0	0	0	1	0	27	60				
PPIAL4G	644591	broad.mit.edu	37	1	143767776	143767776	+	Missense_Mutation	SNP	A	A	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:143767776A>C	ENST00000419275.1	-	1	105	c.73T>G	c.(73-75)Ttt>Gtt	p.F25V		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	25	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						TTGTCTGCAAACTGTTTGATG	0.478																																						ENST00000419275.1																			0				breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						c.(73-75)Ttt>Gtt		peptidylprolyl isomerase A (cyclophilin A)-like 4G							156.0	145.0	148.0					1																	143767776		1568	3579	5147	SO:0001583	missense	644591				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	g.chr1:143767776A>C		CCDS41375.1, CCDS41375.2	1q21.1	2010-06-03			ENSG00000236334	ENSG00000236334			33996	protein-coding gene	gene with protein product							Standard	NM_001123068		Approved		uc001ejt.3	A2BFH1	OTTHUMG00000013629	ENST00000419275.1:c.73T>G	1.37:g.143767776A>C	ENSP00000393845:p.Phe25Val						p.F25V	NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN			1	105	-			25			PPIase cyclophilin-type.		A1L431	Missense_Mutation	SNP	ENST00000419275.1	37	c.73T>G	CCDS41375.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.756297	0.49362	.	.	ENSG00000236334	ENST00000419275	T	0.50277	0.75	0.523	0.523	0.17060	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.393254	0.25299	U	0.031665	T	0.53850	0.1822	H	0.97077	3.935	0.22933	N	0.998546	P	0.46020	0.871	P	0.50270	0.636	T	0.51537	-0.8693	9	0.59425	D	0.04	.	.	.	.	.	25	A2BFH1	PAL4G_HUMAN	V	25	ENSP00000393845:F25V	ENSP00000393845:F25V	F	-	1	0	PPIAL4G	142559299	0.998000	0.40836	0.688000	0.30117	0.297000	0.27493	2.087000	0.41653	0.493000	0.27837	0.331000	0.21540	TTT		0.478	PPIAL4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037969.1	NM_001123068		81	245	0	0	0	1	0	81	245				
FGFR2	2263	broad.mit.edu	37	10	123256220	123256220	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:123256220T>C	ENST00000358487.5	-	13	1961	c.1689A>G	c.(1687-1689)atA>atG	p.I563M	FGFR2_ENST00000360144.3_Missense_Mutation_p.I475M|FGFR2_ENST00000356226.4_Missense_Mutation_p.I446M|FGFR2_ENST00000478859.1_Missense_Mutation_p.I335M|FGFR2_ENST00000369060.4_Missense_Mutation_p.I447M|FGFR2_ENST00000369056.1_Missense_Mutation_p.I564M|FGFR2_ENST00000357555.5_Missense_Mutation_p.I474M|FGFR2_ENST00000457416.2_Missense_Mutation_p.I564M|FGFR2_ENST00000369061.4_Missense_Mutation_p.I451M|FGFR2_ENST00000369059.1_Missense_Mutation_p.I449M|FGFR2_ENST00000351936.6_Missense_Mutation_p.I561M|FGFR2_ENST00000346997.2_Missense_Mutation_p.I561M	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	563	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CATACTCAACTATGACATAGA	0.498		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"""Crouzon, Pfeiffer, and Apert syndromes"""	E			"""gastric. NSCLC, endometrial"""		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(1687-1689)atA>atG		fibroblast growth factor receptor 2	Palifermin(DB00039)						77.0	80.0	79.0					10																	123256220		2203	4300	6503	SO:0001583	missense	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123256220T>C	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1689A>G	10.37:g.123256220T>C	ENSP00000351276:p.Ile563Met					FGFR2_ENST00000351936.6_Missense_Mutation_p.I561M|FGFR2_ENST00000360144.3_Missense_Mutation_p.I475M|FGFR2_ENST00000346997.2_Missense_Mutation_p.I561M|FGFR2_ENST00000369056.1_Missense_Mutation_p.I564M|FGFR2_ENST00000478859.1_Missense_Mutation_p.I335M|FGFR2_ENST00000369060.4_Missense_Mutation_p.I447M|FGFR2_ENST00000356226.4_Missense_Mutation_p.I446M|FGFR2_ENST00000357555.5_Missense_Mutation_p.I474M|FGFR2_ENST00000369059.1_Missense_Mutation_p.I449M|FGFR2_ENST00000457416.2_Missense_Mutation_p.I564M|FGFR2_ENST00000369061.4_Missense_Mutation_p.I451M	p.I563M	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	13	1961	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	563			Protein kinase.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.1689A>G	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.621929	0.46840	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11	5.28	-1.62	0.08372	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.130576	0.64402	D	0.000002	D	0.89891	0.6846	M	0.83774	2.66	0.58432	D	0.999998	B;B;D;P;P;D;P;P	0.65815	0.388;0.222;0.995;0.669;0.67;0.986;0.619;0.865	P;P;D;P;P;P;P;P	0.72338	0.859;0.531;0.977;0.578;0.802;0.827;0.656;0.796	D	0.84410	0.0565	10	0.87932	D	0	.	0.5814	0.00712	0.3372:0.1298:0.2001:0.3329	.	580;562;474;446;563;475;564;466	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	M	474;564;451;563;446;447;449;155;561;564;561;475;564;564;472	ENSP00000350166:I474M;ENSP00000358057:I451M;ENSP00000351276:I563M;ENSP00000348559:I446M;ENSP00000358056:I447M;ENSP00000358055:I449M;ENSP00000404219:I155M;ENSP00000263451:I561M;ENSP00000410294:I564M;ENSP00000309878:I561M;ENSP00000353262:I475M;ENSP00000358052:I564M;ENSP00000358054:I564M;ENSP00000337665:I472M	ENSP00000337665:I472M	I	-	3	3	FGFR2	123246210	0.142000	0.22610	0.950000	0.38849	0.677000	0.39632	-0.672000	0.05244	-0.238000	0.09724	0.449000	0.29647	ATA		0.498	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		27	71	0	0	0	1	0	27	71				
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647512	33647512	+	Silent	SNP	A	A	G			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr16:33647512A>G	ENST00000558425.1	-	2	87	c.88T>C	c.(88-90)Ttg>Ctg	p.L30L																								GGCTGTACCAAGCCTCCCCCA	0.567																																						ENST00000558425.1																			0											c.(88-90)Ttg>Ctg									58.0	68.0	65.0					16																	33647512		1816	4079	5895	SO:0001819	synonymous_variant	0							g.chr16:33647512A>G																												ENST00000558425.1:c.88T>C	16.37:g.33647512A>G							p.L30L							2	87	-									Silent	SNP	ENST00000558425.1	37	c.88T>C																																																																																					0.567	RP11-812E19.9-201	KNOWN	basic	protein_coding	protein_coding				7	164	0	0	0	1	0	7	164				
KCNIP1	30820	broad.mit.edu	37	5	170149724	170149724	+	Missense_Mutation	SNP	T	T	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:170149724T>A	ENST00000411494.1	+	6	368	c.368T>A	c.(367-369)gTa>gAa	p.V123E	KCNIP1_ENST00000377360.4_Missense_Mutation_p.V121E|KCNIP1_ENST00000434108.1_Missense_Mutation_p.V137E|KCNIP1_ENST00000328939.4_Missense_Mutation_p.V112E|KCNIP1_ENST00000520740.1_Missense_Mutation_p.V84E|KCNIP1_ENST00000390656.4_Missense_Mutation_p.V112E			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	123	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGACTTTGTAACCGCTCTG	0.428																																						ENST00000328939.4																			0				autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18						c.(334-336)gTa>gAa		Kv channel interacting protein 1							117.0	98.0	105.0					5																	170149724		2203	4300	6503	SO:0001583	missense	0				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr5:170149724T>A	AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"""EF-hand domain containing"""	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.368T>A	5.37:g.170149724T>A	ENSP00000395323:p.Val123Glu					KCNIP1_ENST00000411494.1_Missense_Mutation_p.V123E|KCNIP1_ENST00000377360.4_Missense_Mutation_p.V121E|KCNIP1_ENST00000390656.4_Missense_Mutation_p.V112E|KCNIP1_ENST00000520740.1_Missense_Mutation_p.V84E|KCNIP1_ENST00000434108.1_Missense_Mutation_p.V137E	p.V112E	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	872	+	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	123			EF-hand 2.		B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	ENST00000411494.1	37	c.335T>A	CCDS34286.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.616556	0.87359	.	.	ENSG00000182132	ENST00000377360;ENST00000328939;ENST00000390656;ENST00000520740;ENST00000434108;ENST00000411494	T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.64	5.64	0.86602	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92130	0.7505	H	0.94808	3.585	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.998	D;D;D;D	0.78314	0.991;0.976;0.982;0.982	D	0.94017	0.7289	9	.	.	.	.	13.8234	0.63336	0.0:0.0:0.0:1.0	.	137;112;123;121	Q3YAD0;Q3YAD2;Q9NZI2;Q3YAD3	.;.;KCIP1_HUMAN;.	E	121;112;112;84;137;123	ENSP00000366577:V121E;ENSP00000329686:V112E;ENSP00000375071:V112E;ENSP00000431102:V84E;ENSP00000414886:V137E;ENSP00000395323:V123E	.	V	+	2	0	KCNIP1	170082302	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.680000	0.84062	2.144000	0.66660	0.533000	0.62120	GTA		0.428	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1			7	35	0	0	0	1	0	7	35				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	66	0	0	0	1	0	3	66				
ME1	4199	broad.mit.edu	37	6	84140595	84140595	+	Splice_Site	SNP	C	C	T			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:84140595C>T	ENST00000369705.3	-	1	195		c.e1+1		ME1_ENST00000543031.1_Splice_Site|ME1_ENST00000541327.1_Splice_Site	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic						carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		TGCGGGTTTACCTTGTTGAGG	0.716																																						ENST00000369705.3																			0				NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.e1+1		malic enzyme 1, NADP(+)-dependent, cytosolic	NADH(DB00157)						45.0	39.0	41.0					6																	84140595		2202	4298	6500	SO:0001630	splice_region_variant	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:84140595C>T	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.78+1G>A	6.37:g.84140595C>T						ME1_ENST00000543031.1_Splice_Site|ME1_ENST00000541327.1_Splice_Site		NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	1	195	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)						B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Splice_Site	SNP	ENST00000369705.3	37		CCDS34492.1	.	.	.	.	.	.	.	.	.	.	C	9.814	1.183834	0.21870	.	.	ENSG00000065833	ENST00000369705	.	.	.	2.54	2.54	0.30619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5929	0.33699	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ME1	84197314	0.997000	0.39634	0.699000	0.30290	0.264000	0.26372	2.389000	0.44407	1.422000	0.47177	0.313000	0.20887	.		0.716	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1		Intron	6	19	0	0	0	1	0	6	19				
TMPRSS7	344805	broad.mit.edu	37	3	111795980	111795980	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr3:111795980G>A	ENST00000452346.2	+	16	2216	c.2213G>A	c.(2212-2214)aGa>aAa	p.R738K	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.R612K			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	738	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGGGGCGAAGACACGAAGCA	0.517																																						ENST00000452346.2																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(2212-2214)aGa>aAa		transmembrane protease, serine 7							57.0	54.0	55.0					3																	111795980		2027	4187	6214	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111795980G>A	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.2213G>A	3.37:g.111795980G>A	ENSP00000398236:p.Arg738Lys					TMPRSS7_ENST00000419127.1_Missense_Mutation_p.R612K	p.R738K			Q7RTY8	TMPS7_HUMAN			16	2216	+			738			Peptidase S1.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.2213G>A		.	.	.	.	.	.	.	.	.	.	G	0.442	-0.898240	0.02472	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	T;T	0.60040	0.22;0.22	5.89	3.1	0.35709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.196102	0.41500	N	0.000861	T	0.30603	0.0770	N	0.16066	0.365	0.09310	N	0.99999	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.23619	-1.0183	10	0.06365	T	0.9	.	5.8168	0.18497	0.2199:0.0:0.6421:0.138	.	738;612	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	K	738;726;712;612	ENSP00000398236:R738K;ENSP00000411645:R612K	ENSP00000411645:R612K	R	+	2	0	TMPRSS7	113278670	1.000000	0.71417	0.992000	0.48379	0.378000	0.30076	1.693000	0.37742	0.381000	0.24851	0.655000	0.94253	AGA		0.517	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		13	52	0	0	0	1	0	13	52				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	61	0	0	0	1	0	3	61				
TMEM57	55219	broad.mit.edu	37	1	25810628	25810628	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:25810628delG	ENST00000374343.4	+	7	1355	c.1176delG	c.(1174-1176)aagfs	p.K392fs	TMEM57_ENST00000399766.3_Frame_Shift_Del_p.K165fs|TMEM57_ENST00000399763.3_Frame_Shift_Del_p.K34fs	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	392					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		ACATTAAAAAGTTAAAGGCTG	0.542																																						ENST00000374343.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1174-1176)aafs		transmembrane protein 57							64.0	69.0	68.0					1																	25810628		2203	4300	6503	SO:0001589	frameshift_variant	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25810628delG	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1176delG	1.37:g.25810628delG	ENSP00000363463:p.Lys392fs					TMEM57_ENST00000399763.3_Frame_Shift_Del_p.K34fs|TMEM57_ENST00000399766.3_Frame_Shift_Del_p.K165fs	p.K392fs	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	7	1355	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	392					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Frame_Shift_Del	DEL	ENST00000374343.4	37	c.1176delG	CCDS30638.1																																																																																				0.542	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		9	142						9	142	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	lincRNA	DEL	CCA	CCA	-	rs28552466|rs61625886|rs374710813	byFrequency	TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:121137791_121137793delCCA	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							ATTTCGCCCTCCACCGCCGCCGC	0.631																																						ENST00000437515.1																			0																																																			0							g.chr1:121137791_121137793delCCA																													1.37:g.121137791_121137793delCCA														0	329	-									RNA	DEL	ENST00000417218.1	37																																																																																						0.631	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			8	10						8	10	---	---	---	---
LOC730100	730100	broad.mit.edu	37	2	51737733	51737734	+	lincRNA	INS	-	-	A	rs13423125	byFrequency	TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr2:51737733_51737734insA	ENST00000440698.1	+	0	694																											CTCGGAAAAGGAAAAAAAAAAA	0.49																																						ENST00000440698.1																			0																																																			0							g.chr2:51737733_51737734insA																													2.37:g.51737744_51737744dupA														0	694	+									RNA	INS	ENST00000440698.1	37																																																																																						0.490	AC007682.1-001	KNOWN	mRNA_start_NF|basic	lincRNA	lincRNA	OTTHUMT00000291399.3			2	4						2	4	---	---	---	---
HDAC2	3066	broad.mit.edu	37	6	114292109	114292110	+	5'UTR	INS	-	-	CTG	rs545748113|rs528988883	byFrequency	TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:114292109_114292110insCTG	ENST00000519065.1	-	0	339_340				HDAC2_ENST00000398283.2_In_Frame_Ins_p.81_82insS|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|RP3-399L15.3_ENST00000520891.1_RNA|RP3-399L15.3_ENST00000520554.1_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000436876.2_RNA|RP3-399L15.3_ENST00000522844.1_RNA|HDAC2_ENST00000519108.1_5'Flank|RP3-399L15.3_ENST00000521888.1_RNA			Q92769	HDAC2_HUMAN	histone deacetylase 2						ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GGCTCCTCCTCctgctgctgct	0.688														365	0.0728834	0.0227	0.1297	5008	,	,		15962	0.0258		0.1034	False		,,,				2504	0.1176					ENST00000398283.2																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(244-246)aag>aCAGag		histone deacetylase 2	Vorinostat(DB02546)																																			SO:0001623	5_prime_UTR_variant	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114292109_114292110insCTG	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.-38->CAG	6.37:g.114292116_114292118dupCTG						RP3-399L15.3_ENST00000436876.2_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000520554.1_RNA|HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA	p.82_82K>TE	NM_001527.3	NP_001518.3	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	1	249_250	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	0			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	In_Frame_Ins	INS	ENST00000519065.1	37	c.245_246insCAG	CCDS43493.2																																																																																				0.688	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			5	2						5	2	---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123786032	123786033	+	Intron	INS	-	-	A	rs201431159		TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:123786032_123786033insA	ENST00000398178.3	-	10	953				TRDN_ENST00000546248.1_Frame_Shift_Ins_p.S297fs|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000587049.1_RNA|RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000589182.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000427828.1_RNA	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin						cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGATCTTTAAGAAAAAAAAAAG	0.386																																						ENST00000546248.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.(889-891)ttafs		triadin																																				SO:0001627	intron_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123786032_123786033insA	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.931+17->T	6.37:g.123786042_123786042dupA						RP11-532N4.2_ENST00000587106.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000434768.1_RNA|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000427828.1_RNA	p.L297fs	NM_001256020.1	NP_001242949.1	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	9	1022_1023	-			0					A5D6W5|F5H2W7|Q6NSB8	Frame_Shift_Ins	INS	ENST00000398178.3	37	c.889_890insT	CCDS55053.1																																																																																				0.386	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				3	6						3	6	---	---	---	---
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-	rs200468982	byFrequency	TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588																																						ENST00000448048.2																			1	Deletion - In frame(1)	p.G37_A43delGDRMAGA(1)	central_nervous_system(1)	central_nervous_system(1)|lung(1)|ovary(1)	3						c.(106-129)gcg>gc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4				0,6		0,0,3						-2.8	0.0			1	28,40		13,2,19	no	coding	AGAP4	NM_133446.2		13,2,22	A1A1,A1R,RR		41.1765,0.0,37.8378				28,46				SO:0001651	inframe_deletion	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.108_128delTGGGGACAGGATGGCAGGAGC	10.37:g.46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENSP00000392513:p.Ala36_Gly42del					AGAP4_ENST00000430779.2_5'UTR	p.AGDRMAGA36del	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			1	233_253	-			36						In_Frame_Del	DEL	ENST00000448048.2	37	c.108_128delTGGGGACAGGATGGCAGGAGC	CCDS7215.1																																																																																				0.588	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		4	8						4	8	---	---	---	---
DERL2	51009	broad.mit.edu	37	17	5383387	5383387	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:5383387delT	ENST00000158771.4	-	6	656	c.601delA	c.(601-603)acafs	p.T201fs	DERL2_ENST00000570848.1_3'UTR|DERL2_ENST00000572834.1_3'UTR|DERL2_ENST00000571968.1_5'Flank	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	201					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|retrograde protein transport, ER to cytosol (GO:0030970)|suckling behavior (GO:0001967)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|late endosome (GO:0005770)|membrane (GO:0016020)				large_intestine(3)	3						ATAGATGGTGTTTTCAGAATT	0.398																																						ENST00000158771.4																			0				large_intestine(3)	3						c.(601-603)cafs		derlin 2							95.0	99.0	98.0					17																	5383387		2203	4300	6503	SO:0001589	frameshift_variant	51009				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding	g.chr17:5383387delT	BC010890	CCDS11073.1	17p13.2	2012-02-01	2012-02-01		ENSG00000072849	ENSG00000072849			17943	protein-coding gene	gene with protein product		610304	"""Der1-like domain family, member 2"""			10810093, 11500051	Standard	NM_016041		Approved	F-LAN-1, FLANa, F-LANa, CGI-101, derlin-2	uc002gcc.1	Q9GZP9	OTTHUMG00000102040	ENST00000158771.4:c.601delA	17.37:g.5383387delT	ENSP00000158771:p.Thr201fs					DERL2_ENST00000572834.1_3'UTR|DERL2_ENST00000570848.1_3'UTR	p.T201fs	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN			6	656	-			201					Q9Y3A7	Frame_Shift_Del	DEL	ENST00000158771.4	37	c.601delA	CCDS11073.1																																																																																				0.398	DERL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219825.1	NM_016041		28	80						28	80	---	---	---	---
CPLX4	339302	broad.mit.edu	37	18	56985676	56985676	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr18:56985676delT	ENST00000299721.3	-	1	205	c.19delA	c.(19-21)agtfs	p.S7fs	CPLX4_ENST00000587244.1_Frame_Shift_Del_p.S7fs	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	7					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)				autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CTTATCATACTTTTCATAAGG	0.378																																						ENST00000299721.3																			0				autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16						c.(19-21)gtfs		complexin 4							93.0	86.0	88.0					18																	56985676		2203	4300	6503	SO:0001589	frameshift_variant	339302				exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding	g.chr18:56985676delT	AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.19delA	18.37:g.56985676delT	ENSP00000299721:p.Ser7fs					CPLX4_ENST00000587244.1_Frame_Shift_Del_p.S7fs	p.S7fs	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN			1	205	-		Colorectal(73;0.175)	7					F1T0L6	Frame_Shift_Del	DEL	ENST00000299721.3	37	c.19delA	CCDS11973.1																																																																																				0.378	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256127.1	NM_181654		14	34						14	34	---	---	---	---
