#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRAMEF10	343071	broad.mit.edu	37	1	12954578	12954578	+	Silent	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:12954578A>G	ENST00000235347.4	-	3	784	c.705T>C	c.(703-705)cgT>cgC	p.R235R		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	235					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAAGAGTTCACGAAGATTGC	0.488																																						uc001auo.2		NA																	0					0						c.(703-705)CGT>CGC		PRAME family member 10							97.0	68.0	76.0					1																	12954578		1238	2963	4201	SO:0001819	synonymous_variant	343071							g.chr1:12954578A>G	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.705T>C	1.37:g.12954578A>G							p.R235R	NM_001039361	NP_001034450	O60809	PRA10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	778	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	235					Q2M1V2	Silent	SNP	ENST00000235347.4	37	c.705T>C	CCDS41255.1																																																																																				0.488	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		3	130	0	0	0	0	3	130				
EPHA8	2046	broad.mit.edu	37	1	22923821	22923821	+	Silent	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:22923821C>T	ENST00000166244.3	+	10	1854	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	594	Mediates interaction with PIK3CG and required for endocytosis. {ECO:0000250}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACCTGTCTTCCTGCCTCTGC	0.657																																						uc001bfx.1		NA																	0				central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(1780-1782)TTC>TTT		ephrin receptor EphA8 isoform 1 precursor							31.0	39.0	36.0					1																	22923821		2202	4300	6502	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22923821C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1782C>T	1.37:g.22923821C>T							p.F594F	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	10	1907	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	594			Cytoplasmic (Potential).		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.1782C>T	CCDS225.1																																																																																				0.657	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		15	48	0	0	0	0	15	48				
ZBTB8A	653121	broad.mit.edu	37	1	33059296	33059296	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:33059296C>T	ENST00000373510.4	+	3	993	c.764C>T	c.(763-765)tCt>tTt	p.S255F	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.S255F	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						GAAATGGACTCTACTCCTGTT	0.438																																						uc001bvn.2		NA																	0					0						c.(763-765)TCT>TTT		zinc finger and BTB domain containing 8A							110.0	102.0	105.0					1																	33059296		2203	4300	6503	SO:0001583	missense	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33059296C>T	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.764C>T	1.37:g.33059296C>T	ENSP00000362609:p.Ser255Phe					ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_Missense_Mutation_p.S255F	p.S255F	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN			3	1249	+			255					Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	ENST00000373510.4	37	c.764C>T	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	C	7.815	0.716490	0.15306	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.15952	2.45;2.38	4.84	4.84	0.62591	.	0.797641	0.11527	U	0.555117	T	0.18087	0.0434	L	0.40543	1.245	0.27249	N	0.958955	P;P	0.39903	0.641;0.694	B;B	0.41764	0.064;0.366	T	0.07233	-1.0783	10	0.10377	T	0.69	-3.7505	15.4886	0.75587	0.0:1.0:0.0:0.0	.	255;255	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	F	255	ENSP00000362609:S255F;ENSP00000317561:S255F	ENSP00000317561:S255F	S	+	2	0	ZBTB8A	32831883	0.044000	0.20184	0.791000	0.31998	0.577000	0.36160	2.507000	0.45442	2.411000	0.81874	0.650000	0.86243	TCT		0.438	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		16	45	0	0	0	0	16	45				
KIAA1522	57648	broad.mit.edu	37	1	33235677	33235677	+	Silent	SNP	C	C	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:33235677C>G	ENST00000373480.1	+	6	823	c.720C>G	c.(718-720)gtC>gtG	p.V240V	KIAA1522_ENST00000401073.2_Silent_p.V299V|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.V251V	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	240										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TTGACCGTGTCTACCGGGATG	0.682																																						uc001bvv.2		NA																	0					0						c.(718-720)GTC>GTG		hypothetical protein LOC57648							31.0	37.0	35.0					1																	33235677		2060	4197	6257	SO:0001819	synonymous_variant	57648							g.chr1:33235677C>G	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.720C>G	1.37:g.33235677C>G						KIAA1522_uc001bvu.1_Silent_p.V299V|KIAA1522_uc010ohm.1_Silent_p.V251V|KIAA1522_uc010ohn.1_Intron	p.V240V	NM_020888	NP_065939	Q9P206	K1522_HUMAN			6	856	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	240					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	ENST00000373480.1	37	c.720C>G	CCDS55588.1																																																																																				0.682	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			19	47	0	0	0	0	19	47				
MFSD2A	84879	broad.mit.edu	37	1	40424394	40424394	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:40424394A>G	ENST00000372809.5	+	3	432	c.289A>G	c.(289-291)Atc>Gtc	p.I97V	MFSD2A_ENST00000372811.5_Missense_Mutation_p.I84V|MFSD2A_ENST00000420632.2_Intron	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	97					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTCTGCCTCCATCATCCTGTT	0.582																																						uc001cev.2		NA																	0				ovary(1)|pancreas(1)	2						c.(289-291)ATC>GTC		major facilitator superfamily domain containing							198.0	185.0	189.0					1																	40424394		2203	4300	6503	SO:0001583	missense	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40424394A>G	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.289A>G	1.37:g.40424394A>G	ENSP00000361895:p.Ile97Val					MFSD2A_uc010ojb.1_Missense_Mutation_p.I47V|MFSD2A_uc001ceu.2_Missense_Mutation_p.I84V|MFSD2A_uc010ojc.1_Intron|MFSD2A_uc009vvy.2_RNA	p.I97V	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN			3	470	+			97			Helical; (Potential).		A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	c.289A>G	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.186001	0.57909	.	.	ENSG00000168389	ENST00000372811;ENST00000434861;ENST00000372809	T;D;T	0.86865	-1.45;-2.18;-1.45	5.94	5.94	0.96194	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.80864	0.4705	L	0.38838	1.175	0.80722	D	1	P;B;B	0.34997	0.479;0.211;0.045	B;B;B	0.36092	0.217;0.147;0.051	T	0.77678	-0.2498	10	0.06757	T	0.87	-26.9229	15.579	0.76418	1.0:0.0:0.0:0.0	.	47;97;84	B4DNN7;Q8NA29;Q8NA29-2	.;MFS2A_HUMAN;.	V	84;82;97	ENSP00000361898:I84V;ENSP00000407606:I82V;ENSP00000361895:I97V	ENSP00000361895:I97V	I	+	1	0	MFSD2A	40196981	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	8.837000	0.92110	2.279000	0.76181	0.459000	0.35465	ATC		0.582	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		50	152	0	0	0	0	50	152				
CPT2	1376	broad.mit.edu	37	1	53675843	53675843	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:53675843T>A	ENST00000371486.3	+	4	1012	c.497T>A	c.(496-498)cTc>cAc	p.L166H	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	166					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CTGAAGACACTCCGGGCTGGC	0.493																																						uc001cvb.3		NA																	0					0						c.(496-498)CTC>CAC		carnitine O-palmitoyltransferase precursor	L-Carnitine(DB00583)|Perhexiline(DB01074)						70.0	73.0	72.0					1																	53675843		2203	4300	6503	SO:0001583	missense	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53675843T>A	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.497T>A	1.37:g.53675843T>A	ENSP00000360541:p.Leu166His						p.L166H	NM_000098	NP_000089	P23786	CPT2_HUMAN			4	1012	+			166			Mitochondrial matrix (By similarity).		B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	c.497T>A	CCDS575.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.075385	0.76415	.	.	ENSG00000157184	ENST00000371486	D	0.91996	-2.95	5.69	5.69	0.88448	.	0.188907	0.48767	D	0.000174	D	0.97182	0.9079	H	0.94620	3.56	0.58432	D	0.999997	D	0.89917	1.0	D	0.77004	0.989	D	0.98276	1.0506	10	0.87932	D	0	-0.4668	15.9584	0.79906	0.0:0.0:0.0:1.0	.	166	P23786	CPT2_HUMAN	H	166	ENSP00000360541:L166H	ENSP00000360541:L166H	L	+	2	0	CPT2	53448431	0.998000	0.40836	0.692000	0.30179	0.955000	0.61496	7.698000	0.84413	2.165000	0.68154	0.528000	0.53228	CTC		0.493	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		21	51	0	0	0	0	21	51				
IGSF3	3321	broad.mit.edu	37	1	117142910	117142910	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:117142910G>C	ENST00000369486.3	-	7	2447	c.1682C>G	c.(1681-1683)tCc>tGc	p.S561C	IGSF3_ENST00000369483.1_Missense_Mutation_p.S581C|IGSF3_ENST00000318837.6_Missense_Mutation_p.S581C	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	561	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CAAGTCAAAGGAGTCGCTGTA	0.592																																						uc001egr.1		NA																	0				ovary(2)	2						c.(1681-1683)TCC>TGC		immunoglobulin superfamily, member 3 isoform 2							29.0	34.0	32.0					1																	117142910		2203	4298	6501	SO:0001583	missense	3321					integral to membrane		g.chr1:117142910G>C	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1682C>G	1.37:g.117142910G>C	ENSP00000358498:p.Ser561Cys					IGSF3_uc001egq.1_Missense_Mutation_p.S581C|IGSF3_uc001egs.1_Missense_Mutation_p.S234C	p.S561C	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	7	2387	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	561			Ig-like C2-type 5.|Extracellular (Potential).		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.1682C>G	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963270	0.74016	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03272	3.99;3.99;3.99	4.57	4.57	0.56435	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.062103	0.64402	D	0.000003	T	0.06962	0.0177	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.984;0.999;0.991	T	0.24693	-1.0153	10	0.87932	D	0	-40.0587	14.8994	0.70666	0.0:0.0:1.0:0.0	.	581;561;581	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	C	561;581;581	ENSP00000358498:S561C;ENSP00000358495:S581C;ENSP00000321184:S581C	ENSP00000321184:S581C	S	-	2	0	IGSF3	116944433	1.000000	0.71417	0.980000	0.43619	0.861000	0.49209	9.017000	0.93651	2.354000	0.79902	0.455000	0.32223	TCC		0.592	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		18	68	0	0	0	0	18	68				
PDE4DIP	9659	broad.mit.edu	37	1	144859816	144859816	+	Missense_Mutation	SNP	T	T	C	rs587702923	byFrequency	TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:144859816T>C	ENST00000369354.3	-	38	6457	c.6268A>G	c.(6268-6270)Att>Gtt	p.I2090V	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.I2175V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.I2090V|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.I1984V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.I2226V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2090					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCTGGTTAATGGAGGAGGGG	0.577			T	PDGFRB	MPD																																	uc001elw.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(6268-6270)ATT>GTT		phosphodiesterase 4D interacting protein isoform							65.0	63.0	63.0					1																	144859816		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144859816T>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6268A>G	1.37:g.144859816T>C	ENSP00000358360:p.Ile2090Val					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.I1984V|PDE4DIP_uc001elv.3_Missense_Mutation_p.I1097V	p.I2090V	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	38	6559	-			2090					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.6268A>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.760839	0.00657	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01685	4.69;4.78;4.78;4.8;4.79	4.63	-9.26	0.00662	.	.	.	.	.	T	0.00178	0.0005	N	0.03608	-0.345	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.47058	-0.9146	9	0.02654	T	1	.	5.9795	0.19399	0.0819:0.4615:0.1653:0.2913	.	1984;2090	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	V	1984;2090;2090;2175;2226	ENSP00000327209:I1984V;ENSP00000358360:I2090V;ENSP00000358363:I2090V;ENSP00000435654:I2175V;ENSP00000358366:I2226V	ENSP00000327209:I1984V	I	-	1	0	PDE4DIP	143571173	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.249000	0.00266	-3.114000	0.00240	-1.162000	0.01777	ATT		0.577	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		7	98	0	0	0	0	7	98				
NBPF10	100132406	broad.mit.edu	37	1	145296440	145296440	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:145296440G>A	ENST00000342960.5	+	3	397	c.362G>A	c.(361-363)cGc>cAc	p.R121H	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	121						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.R121H(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)		GATGCCTCCCGCTCATTGTAT	0.562																																						uc001end.3		NA																	1	Substitution - Missense(1)		kidney(1)		0						c.(361-363)CGC>CAC		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145296440G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.362G>A	1.37:g.145296440G>A	ENSP00000345684:p.Arg121His					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.R121H|NBPF10_uc001emq.1_Intron	p.R121H	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	397	+	all_hematologic(923;0.032)		121					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.362G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.583	-0.836154	0.02713	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.02837	4.14	1.04	-2.09	0.07232	.	.	.	.	.	T	0.00384	0.0012	N	0.17474	0.49	0.09310	N	1	.	.	.	.	.	.	T	0.41288	-0.9517	7	0.15952	T	0.53	.	2.435	0.04480	0.3331:0.0:0.2034:0.4635	.	.	.	.	H	121;46;121	ENSP00000345684:R121H	ENSP00000345684:R121H	R	+	2	0	NBPF10	144007797	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.405000	0.01045	-3.091000	0.00247	-1.767000	0.00664	CGC		0.562	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	290	0	0	0	0	6	290				
IGSF9	57549	broad.mit.edu	37	1	159907550	159907550	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:159907550C>T	ENST00000368094.1	-	4	523	c.326G>A	c.(325-327)cGc>cAc	p.R109H	IGSF9_ENST00000361509.3_Missense_Mutation_p.R109H	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	109	Ig-like 1.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GAAGAACACGCGGCACTCGTA	0.602																																						uc001fur.2		NA																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)	5						c.(325-327)CGC>CAC		immunoglobulin superfamily, member 9 isoform a							114.0	93.0	100.0					1																	159907550		2203	4300	6503	SO:0001583	missense	57549					cell junction|integral to membrane|synapse		g.chr1:159907550C>T	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.326G>A	1.37:g.159907550C>T	ENSP00000357073:p.Arg109His					IGSF9_uc001fuq.2_Missense_Mutation_p.R109H	p.R109H	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	524	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	109			Ig-like 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000368094.1	37	c.326G>A	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047953	0.93740	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.28454	1.61;1.61	4.45	4.45	0.53987	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41396	D	0.000887	T	0.49236	0.1545	M	0.81497	2.545	0.45791	D	0.998675	D;D	0.89917	0.998;1.0	P;D	0.79784	0.708;0.993	T	0.51803	-0.8659	9	.	.	.	-16.0532	14.9806	0.71309	0.0:1.0:0.0:0.0	.	109;109	Q9P2J2;C9JI81	TUTLA_HUMAN;.	H	109	ENSP00000355049:R109H;ENSP00000357073:R109H	.	R	-	2	0	IGSF9	158174174	0.996000	0.38824	0.968000	0.41197	0.996000	0.88848	3.399000	0.52586	2.467000	0.83353	0.508000	0.49915	CGC		0.602	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		18	60	0	0	0	0	18	60				
DCAF6	55827	broad.mit.edu	37	1	168014380	168014380	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:168014380G>A	ENST00000312263.6	+	14	2146	c.1942G>A	c.(1942-1944)Gac>Aac	p.D648N	DCAF6_ENST00000367843.3_Missense_Mutation_p.D668N|DCAF6_ENST00000432587.2_Missense_Mutation_p.D694N|DCAF6_ENST00000367840.3_Missense_Mutation_p.D725N	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	648					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						ATCCACCAGGGACTCTGCTCT	0.483																																						uc001gew.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1942-1944)GAC>AAC		IQ motif and WD repeats 1 isoform b							59.0	60.0	59.0					1																	168014380		2203	4300	6503	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:168014380G>A	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1942G>A	1.37:g.168014380G>A	ENSP00000311949:p.Asp648Asn					DCAF6_uc001gev.2_Missense_Mutation_p.D668N|DCAF6_uc001gex.2_Missense_Mutation_p.D725N|DCAF6_uc010plk.1_Missense_Mutation_p.D694N|DCAF6_uc001gey.2_Missense_Mutation_p.D521N|DCAF6_uc001gez.2_5'UTR	p.D648N	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN			14	2184	+			648					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.1942G>A	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820906	0.50633	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.43	3.53	0.40419	WD40 repeat-like-containing domain (1);	0.282949	0.38959	N	0.001502	T	0.07369	0.0186	N	0.14661	0.345	0.27552	N	0.950479	B;B;B;B	0.31769	0.22;0.199;0.339;0.199	B;B;B;B	0.30572	0.039;0.117;0.035;0.117	T	0.10268	-1.0637	9	0.56958	D	0.05	.	6.1162	0.20127	0.2444:0.0:0.7556:0.0	.	694;725;648;668	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	N	668;694;648;725	ENSP00000356817:D668N;ENSP00000396238:D694N;ENSP00000311949:D648N;ENSP00000356814:D725N	ENSP00000311949:D648N	D	+	1	0	DCAF6	166281004	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	1.353000	0.34045	2.547000	0.85894	0.467000	0.42956	GAC		0.483	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		13	28	0	0	0	0	13	28				
CACNA1E	777	broad.mit.edu	37	1	181702754	181702754	+	Missense_Mutation	SNP	C	C	T	rs377401371		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:181702754C>T	ENST00000367573.2	+	21	3130	c.3130C>T	c.(3130-3132)Cgg>Tgg	p.R1044W	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R995W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1044W|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1025W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1025W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R651W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R976W	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1044					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGACATGGGCCGGGTCATCAG	0.647																																						uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(3130-3132)CGG>TGG		calcium channel, voltage-dependent, R type,		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4402		0,0,2201	46.0	54.0	51.0		3130,3130,3073	3.0	1.0	1		51	1,8577		0,1,4288	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	101,101,101	0,1,6489	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1044/2271,1044/2314,1025/2252	181702754	1,12979	2201	4289	6490	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181702754C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3130C>T	1.37:g.181702754C>T	ENSP00000356545:p.Arg1044Trp					CACNA1E_uc009wxs.2_Missense_Mutation_p.R932W|CACNA1E_uc001gox.1_Missense_Mutation_p.R270W|CACNA1E_uc009wxt.2_Missense_Mutation_p.R270W	p.R1044W	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			21	3295	+			1044			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3130C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025401	0.75390	0.0	1.17E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96396	-3.94;-3.94;-3.93;-3.94;-4.0;-3.93;-3.93	4.99	3.02	0.34903	.	3.450830	0.00481	N	0.000130	D	0.94548	0.8244	N	0.08118	0	0.35932	D	0.832582	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.57620	0.764;0.824;0.764	D	0.86433	0.1762	10	0.66056	D	0.02	.	7.1514	0.25612	0.308:0.6129:0.0:0.0791	.	1025;1044;1044	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	W	1044;1025;995;976;651;1025;1044	ENSP00000356542:R1044W;ENSP00000434814:R1025W;ENSP00000350183:R995W;ENSP00000351101:R976W;ENSP00000356539:R651W;ENSP00000353222:R1025W;ENSP00000356545:R1044W	ENSP00000350183:R995W	R	+	1	2	CACNA1E	179969377	0.932000	0.31603	1.000000	0.80357	0.934000	0.57294	0.106000	0.15354	0.450000	0.26774	0.561000	0.74099	CGG		0.647	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		6	17	0	0	0	0	6	17				
KCNT2	343450	broad.mit.edu	37	1	196309633	196309633	+	Nonsense_Mutation	SNP	G	G	A	rs528303127		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:196309633G>A	ENST00000294725.9	-	16	2536	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*	KCNT2_ENST00000367433.5_Nonsense_Mutation_p.R541*|KCNT2_ENST00000451324.2_Nonsense_Mutation_p.R152*|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.R491*|KCNT2_ENST00000609185.1_Nonsense_Mutation_p.R491*|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	541	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATAATGTATCGAGGACCTGGA	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		13704	0.0		0.0	False		,,,				2504	0.001					uc001gtd.1		NA																	0				ovary(5)|breast(1)|skin(1)	7						c.(1621-1623)CGA>TGA		potassium channel, subfamily T, member 2							71.0	71.0	71.0					1																	196309633		2203	4299	6502	SO:0001587	stop_gained	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196309633G>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1621C>T	1.37:g.196309633G>A	ENSP00000294725:p.Arg541*					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Nonsense_Mutation_p.R491*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.R541*|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Nonsense_Mutation_p.R541*|KCNT2_uc001gth.1_Nonsense_Mutation_p.R62*	p.R541*	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			16	1681	-			541			Cytoplasmic (Potential).|RCK N-terminal.		Q3SY59|Q5VTN1|Q6ZMT3	Nonsense_Mutation	SNP	ENST00000294725.9	37	c.1621C>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	37	5.982073	0.97168	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	.	.	.	5.95	5.95	0.96441	.	0.000000	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.823	15.1373	0.72579	0.0:0.0:0.8587:0.1413	.	.	.	.	X	541;491;362;152;541	.	ENSP00000294725:R541X	R	-	1	2	KCNT2	194576256	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.548000	0.67255	2.821000	0.97095	0.650000	0.86243	CGA		0.323	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		21	53	0	0	0	0	21	53				
FAM71A	149647	broad.mit.edu	37	1	212799632	212799632	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:212799632T>G	ENST00000294829.3	+	1	1844	c.1413T>G	c.(1411-1413)gaT>gaG	p.D471E	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	471						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CCAATAGAGATGACAAAAAGG	0.557																																						uc001hjk.2		NA																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1411-1413)GAT>GAG		hypothetical protein LOC149647							65.0	73.0	70.0					1																	212799632		2203	4300	6503	SO:0001583	missense	149647							g.chr1:212799632T>G		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.1413T>G	1.37:g.212799632T>G	ENSP00000294829:p.Asp471Glu					uc010pth.1_RNA	p.D471E	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	1817	+			471					Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.1413T>G	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	T	4.437	0.080946	0.08533	.	.	ENSG00000162771	ENST00000294829;ENST00000545975	T	0.03524	3.9	4.19	-8.38	0.00973	.	.	.	.	.	T	0.02193	0.0068	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.42310	-0.9459	9	0.19147	T	0.46	-0.0106	3.3753	0.07235	0.1848:0.2216:0.4568:0.1368	.	471	Q8IYT1	FA71A_HUMAN	E	471;246	ENSP00000294829:D471E	ENSP00000294829:D471E	D	+	3	2	FAM71A	210866255	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.365000	0.00496	-2.677000	0.00410	-2.470000	0.00202	GAT		0.557	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		20	44	0	0	0	0	20	44				
MARK1	4139	broad.mit.edu	37	1	220805593	220805593	+	Missense_Mutation	SNP	A	A	G	rs533871369		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:220805593A>G	ENST00000366917.4	+	11	1326	c.1060A>G	c.(1060-1062)Ata>Gta	p.I354V	MARK1_ENST00000402574.1_Missense_Mutation_p.I219V|MARK1_ENST00000366918.4_Missense_Mutation_p.I332V					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TGATGCCTTAATAAATCAGAA	0.299																																						uc001hmn.3		NA																	0				ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(1060-1062)ATA>GTA		MAP/microtubule affinity-regulating kinase 1							135.0	150.0	145.0					1																	220805593		2203	4294	6497	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220805593A>G	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1060A>G	1.37:g.220805593A>G	ENSP00000355884:p.Ile354Val					MARK1_uc009xdw.2_Missense_Mutation_p.I354V|MARK1_uc010pun.1_Missense_Mutation_p.I354V|MARK1_uc001hmm.3_Missense_Mutation_p.I332V	p.I354V	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	11	1657	+			354			UBA.			Missense_Mutation	SNP	ENST00000366917.4	37	c.1060A>G	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	A	8.497	0.863334	0.17250	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.25579	1.79;1.79;1.79	5.63	3.32	0.38043	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);	0.389995	0.29752	N	0.011297	T	0.08133	0.0203	N	0.02315	-0.6	0.23492	N	0.997567	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.29731	-1.0002	10	0.20046	T	0.44	.	3.8774	0.09062	0.5302:0.1812:0.2886:0.0	.	354;219;354;332	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	V	219;332;354	ENSP00000386017:I219V;ENSP00000355885:I332V;ENSP00000355884:I354V	ENSP00000355884:I354V	I	+	1	0	MARK1	218872216	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.426000	0.34870	0.423000	0.26033	-0.429000	0.05907	ATA		0.299	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			70	218	0	0	0	0	70	218				
SNAP47	116841	broad.mit.edu	37	1	227935613	227935613	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:227935613A>T	ENST00000366759.4	+	2	725	c.311A>T	c.(310-312)gAg>gTg	p.E104V	SNAP47-AS1_ENST00000413347.2_RNA|SNAP47_ENST00000315781.5_Missense_Mutation_p.E104V|SNAP47_ENST00000366760.1_Intron	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	104					long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ATCAAGAAGGAGGCTTCACAT	0.527																																						uc001hrf.2		NA																	0				ovary(1)	1						c.(310-312)GAG>GTG		synaptosomal-associated protein, 47kDa							70.0	68.0	69.0					1																	227935613		2203	4300	6503	SO:0001583	missense	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227935613A>T	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.311A>T	1.37:g.227935613A>T	ENSP00000355721:p.Glu104Val					SNAP47_uc001hqz.2_Missense_Mutation_p.E59V|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_Missense_Mutation_p.E104V|SNAP47_uc001hre.2_Intron|SNAP47_uc001hrg.1_Missense_Mutation_p.E59V	p.E104V	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN			2	725	+			104					B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	37	c.311A>T	CCDS1562.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.158675	0.38119	.	.	ENSG00000143740	ENST00000366759;ENST00000315781	T;T	0.24151	1.87;1.87	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	M	0.80616	2.505	0.49130	D	0.999751	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56202	-0.8018	10	0.87932	D	0	6.3088	11.0526	0.47898	1.0:0.0:0.0:0.0	.	104;104	Q5SQN1;Q5SQN1-2	SNP47_HUMAN;.	V	104	ENSP00000355721:E104V;ENSP00000314157:E104V	ENSP00000314157:E104V	E	+	2	0	SNAP47	226002236	1.000000	0.71417	0.556000	0.28293	0.142000	0.21351	5.203000	0.65174	1.716000	0.51395	0.482000	0.46254	GAG		0.527	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		20	48	0	0	0	0	20	48				
EXO1	9156	broad.mit.edu	37	1	242020736	242020736	+	Silent	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:242020736A>G	ENST00000366548.3	+	7	1088	c.495A>G	c.(493-495)caA>caG	p.Q165Q	EXO1_ENST00000493702.1_3'UTR|EXO1_ENST00000518483.1_Silent_p.Q165Q|EXO1_ENST00000348581.5_Silent_p.Q165Q	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	165	I-domain.|Interaction with MSH3.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GAATTGTGCAAGCCATAATTA	0.458								Editing and processing nucleases																														uc001hzh.2		NA																	0				ovary(2)|lung(2)|skin(1)	5						c.(493-495)CAA>CAG	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							99.0	102.0	101.0					1																	242020736		2203	4300	6503	SO:0001819	synonymous_variant	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242020736A>G	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.495A>G	1.37:g.242020736A>G						EXO1_uc001hzi.2_Silent_p.Q165Q|EXO1_uc001hzj.2_Silent_p.Q165Q|EXO1_uc009xgq.2_Silent_p.Q165Q	p.Q165Q	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		7	1035	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	165			I-domain.|Interaction with MSH3.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Silent	SNP	ENST00000366548.3	37	c.495A>G	CCDS1620.1																																																																																				0.458	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		20	59	0	0	0	0	20	59				
OR2L13	284521	broad.mit.edu	37	1	248262997	248262997	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:248262997C>T	ENST00000358120.2	+	2	465	c.320C>T	c.(319-321)gCg>gTg	p.A107V	OR2L13_ENST00000366478.2_Missense_Mutation_p.A107V			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A107V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CTGACCATGGCGTGTTCTGAA	0.517																																						uc001ids.2		NA																	1	Substitution - Missense(1)	p.A107V(1)	central_nervous_system(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(319-321)GCG>GTG		olfactory receptor, family 2, subfamily L,							250.0	227.0	235.0					1																	248262997		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262997C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.320C>T	1.37:g.248262997C>T	ENSP00000350836:p.Ala107Val						p.A107V	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	657	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		107			Helical; Name=3; (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.320C>T	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	2.085	-0.409817	0.04799	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.03689	3.84;3.84	4.07	-0.367	0.12541	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	D	0.000378	T	0.02494	0.0076	N	0.25426	0.745	0.09310	N	1	D	0.65815	0.995	P	0.48368	0.575	T	0.28902	-1.0029	10	0.02654	T	1	.	4.615	0.12422	0.0:0.2488:0.3429:0.4083	.	107	Q8N349	OR2LD_HUMAN	V	107	ENSP00000355434:A107V;ENSP00000350836:A107V	ENSP00000350836:A107V	A	+	2	0	OR2L13	246329620	0.000000	0.05858	0.043000	0.18650	0.040000	0.13550	-5.337000	0.00130	0.052000	0.16007	-0.128000	0.14901	GCG		0.517	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		66	224	0	0	0	0	66	224				
TMEM72	643236	broad.mit.edu	37	10	45430152	45430152	+	Missense_Mutation	SNP	G	G	A	rs373669899		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr10:45430152G>A	ENST00000544540.1	+	4	528	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	TMEM72-AS1_ENST00000450287.2_RNA|RP11-285G1.9_ENST00000425541.2_lincRNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	133						integral component of membrane (GO:0016021)		p.R133L(2)		breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						CTGAGCAAGCGGAAGAAGAGG	0.602																																						uc001jbn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(397-399)CGG>CAG		transmembrane protein 72		G	GLN/ARG	0,3136		0,0,1568	77.0	80.0	79.0		398	4.4	0.9	10		79	1,7163		0,1,3581	no	missense	TMEM72	NM_001123376.1	43	0,1,5149	AA,AG,GG		0.014,0.0,0.0097	benign	133/276	45430152	1,10299	1568	3582	5150	SO:0001583	missense	643236					integral to membrane		g.chr10:45430152G>A	AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 127"""	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.44G>A	10.37:g.45430152G>A	ENSP00000439911:p.Arg15Gln					uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.R15Q	p.R133Q	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN			5	595	+			133					A1L181|Q5T740	Missense_Mutation	SNP	ENST00000544540.1	37	c.398G>A		.	.	.	.	.	.	.	.	.	.	G	14.13	2.443008	0.43326	0.0	1.4E-4	ENSG00000187783	ENST00000389583;ENST00000544540	.	.	.	5.28	4.38	0.52667	.	0.559057	0.16523	N	0.210740	T	0.44477	0.1295	L	0.45137	1.4	0.33809	D	0.627667	B	0.25351	0.124	B	0.14578	0.011	T	0.55315	-0.8160	9	0.48119	T	0.1	-21.5712	12.1558	0.54077	0.0845:0.0:0.9155:0.0	.	133	A0PK05	TMM72_HUMAN	Q	133;15	.	ENSP00000374234:R133Q	R	+	2	0	TMEM72	44750158	1.000000	0.71417	0.948000	0.38648	0.363000	0.29612	3.352000	0.52239	1.367000	0.46095	0.563000	0.77884	CGG		0.602	TMEM72-201	KNOWN	basic	protein_coding	protein_coding		NM_001123376		25	79	0	0	0	0	25	79				
CHAT	1103	broad.mit.edu	37	10	50833611	50833611	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr10:50833611T>C	ENST00000337653.2	+	6	998	c.845T>C	c.(844-846)cTc>cCc	p.L282P	CHAT_ENST00000351556.3_Missense_Mutation_p.L164P|CHAT_ENST00000455728.2_Missense_Mutation_p.L164P|CHAT_ENST00000339797.1_Missense_Mutation_p.L164P|CHAT_ENST00000395562.2_Missense_Mutation_p.L200P|CHAT_ENST00000395559.2_Missense_Mutation_p.L164P	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	282					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	TCCTACCGGCTCCCCGGCCAT	0.592																																						uc001jhz.2		NA																	0				central_nervous_system(3)	3						c.(844-846)CTC>CCC		choline acetyltransferase isoform 2	Choline(DB00122)						48.0	37.0	41.0					10																	50833611		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50833611T>C	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.845T>C	10.37:g.50833611T>C	ENSP00000337103:p.Leu282Pro					CHAT_uc001jhv.1_Missense_Mutation_p.L164P|CHAT_uc001jhx.1_Missense_Mutation_p.L164P|CHAT_uc001jhy.1_Missense_Mutation_p.L164P|CHAT_uc001jia.2_Missense_Mutation_p.L164P|CHAT_uc010qgs.1_Missense_Mutation_p.L164P	p.L282P	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	6	998	+		all_neural(218;0.107)	282					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.845T>C	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.582430	0.46006	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.82618	0.5076	M	0.81341	2.54	0.80722	D	1	B;B	0.31879	0.024;0.344	B;B	0.34536	0.049;0.185	D	0.84084	0.0386	10	0.87932	D	0	-23.2606	15.1156	0.72397	0.0:0.0:0.0:1.0	.	164;282	F8W8I2;P28329	.;CLAT_HUMAN	P	164;164;164;282;200;164	ENSP00000343486:L164P;ENSP00000345878:L164P;ENSP00000378926:L164P;ENSP00000337103:L282P;ENSP00000378929:L200P;ENSP00000390521:L164P	ENSP00000337103:L282P	L	+	2	0	CHAT	50503617	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	8.026000	0.88783	1.974000	0.57490	0.338000	0.21704	CTC		0.592	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		10	7	0	0	0	0	10	7				
SH2D4B	387694	broad.mit.edu	37	10	82403807	82403807	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr10:82403807A>C	ENST00000470604.2	+	8	1262	c.1262A>C	c.(1261-1263)gAc>gCc	p.D421A	SH2D4B_ENST00000372150.3_3'UTR|SH2D4B_ENST00000339284.2_Silent_p.G348G|SH2D4B_ENST00000313455.4_Silent_p.G300G			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	421										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GGACAGAGGGACAGCCCACCA	0.373																																						uc001kck.1		NA																	0					0						c.(1042-1044)GGA>GGC		SH2 domain containing 4B isoform 1							111.0	111.0	111.0					10																	82403807		2203	4300	6503	SO:0001583	missense	387694							g.chr10:82403807A>C		CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"""SH2 domain containing"""	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.1262A>C	10.37:g.82403807A>C	ENSP00000417953:p.Asp421Ala					SH2D4B_uc001kcl.1_Silent_p.G300G|SH2D4B_uc001kcm.1_Missense_Mutation_p.D169A|SH2D4B_uc001kcn.1_RNA	p.G348G	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Colorectal(32;0.229)		7	1474	+			Error:Variant_position_missing_in_Q5SQS7_after_alignment					Q5SQS5|Q6ZVW9|Q6ZVZ3	Silent	SNP	ENST00000470604.2	37	c.1044A>C		.	.	.	.	.	.	.	.	.	.	A	12.74	2.028207	0.35797	.	.	ENSG00000178217	ENST00000470604	T	0.35973	1.28	5.05	3.89	0.44902	.	0.342554	0.28964	N	0.013569	T	0.30603	0.0770	.	.	.	0.80722	D	1	B	0.22346	0.068	B	0.22601	0.04	T	0.08166	-1.0735	9	0.54805	T	0.06	-21.024	10.3443	0.43897	0.8343:0.1657:0.0:0.0	.	421	Q5SQS7	SH24B_HUMAN	A	421	ENSP00000417953:D421A	ENSP00000417953:D421A	D	+	2	0	SH2D4B	82393787	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.909000	0.39917	0.845000	0.35118	0.482000	0.46254	GAC		0.373	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_351984		9	36	0	0	0	0	9	36				
CNNM2	54805	broad.mit.edu	37	10	104835934	104835934	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr10:104835934G>A	ENST00000369878.4	+	7	2513	c.2325G>A	c.(2323-2325)ctG>ctA	p.L775L	CNNM2_ENST00000433628.2_Silent_p.L753L|CNNM2_ENST00000475511.1_3'UTR	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	775					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CACCAACACTGGGGAGCAGCA	0.527																																						uc001kwm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2323-2325)CTG>CTA		cyclin M2 isoform 1							70.0	75.0	73.0					10																	104835934		2048	4200	6248	SO:0001819	synonymous_variant	54805				ion transport	integral to membrane		g.chr10:104835934G>A	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.2325G>A	10.37:g.104835934G>A						CNNM2_uc001kwn.2_Silent_p.L753L	p.L775L	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	7	2449	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	775					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Silent	SNP	ENST00000369878.4	37	c.2325G>A	CCDS44474.1																																																																																				0.527	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		3	12	0	0	0	0	3	12				
DOCK1	1793	broad.mit.edu	37	10	129216755	129216755	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr10:129216755A>T	ENST00000280333.6	+	45	4688	c.4579A>T	c.(4579-4581)Aac>Tac	p.N1527Y		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1527	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CATGCTCCTGAACGGCATCGT	0.602																																						uc001ljt.2		NA																	0				central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(4579-4581)AAC>TAC		dedicator of cytokinesis 1							65.0	76.0	72.0					10																	129216755		2203	4300	6503	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129216755A>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4579A>T	10.37:g.129216755A>T	ENSP00000280333:p.Asn1527Tyr					DOCK1_uc010qun.1_Missense_Mutation_p.N1548Y|DOCK1_uc009yaq.2_Missense_Mutation_p.N522Y	p.N1527Y	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	45	4643	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1527			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.4579A>T		.	.	.	.	.	.	.	.	.	.	A	17.60	3.429840	0.62844	.	.	ENSG00000150760	ENST00000280333	T	0.19669	2.13	4.8	4.8	0.61643	.	0.100536	0.64402	D	0.000004	T	0.55130	0.1901	M	0.92833	3.35	0.80722	D	1	D;D;D	0.76494	0.986;0.999;0.999	D;D;D	0.73380	0.955;0.91;0.98	T	0.67864	-0.5560	10	0.87932	D	0	.	14.5238	0.67873	1.0:0.0:0.0:0.0	.	1527;1593;1527	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	Y	1527	ENSP00000280333:N1527Y	ENSP00000280333:N1527Y	N	+	1	0	DOCK1	129106745	1.000000	0.71417	0.028000	0.17463	0.496000	0.33645	9.081000	0.94049	2.017000	0.59298	0.454000	0.30748	AAC		0.602	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		7	26	0	0	0	0	7	26				
KRTAP5-3	387266	broad.mit.edu	37	11	1629441	1629441	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr11:1629441A>G	ENST00000399685.1	-	1	252	c.175T>C	c.(175-177)Tcc>Ccc	p.S59P		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	59	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CCCCCACAGGAGCCACAGCTG	0.677																																						uc001ltw.1		NA																	0				ovary(2)	2						c.(175-177)TCC>CCC		keratin associated protein 5-3							70.0	92.0	85.0					11																	1629441		2197	4287	6484	SO:0001583	missense	387266					keratin filament		g.chr11:1629441A>G	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.175T>C	11.37:g.1629441A>G	ENSP00000382592:p.Ser59Pro						p.S59P	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	253	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	59			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.175T>C	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	A	8.125	0.781838	0.16120	.	.	ENSG00000196224	ENST00000399685	T	0.01133	5.29	2.85	2.85	0.33270	.	.	.	.	.	T	0.01661	0.0053	L	0.51914	1.62	0.21652	N	0.999603	B	0.24823	0.112	B	0.22753	0.041	T	0.38735	-0.9647	9	0.56958	D	0.05	.	9.4659	0.38813	1.0:0.0:0.0:0.0	.	59	Q6L8H2	KRA53_HUMAN	P	59	ENSP00000382592:S59P	ENSP00000382592:S59P	S	-	1	0	KRTAP5-3	1586017	0.966000	0.33281	0.998000	0.56505	0.634000	0.38068	0.914000	0.28624	1.273000	0.44346	0.241000	0.17934	TCC		0.677	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			72	193	0	0	0	0	72	193				
DCHS1	8642	broad.mit.edu	37	11	6653621	6653621	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr11:6653621G>T	ENST00000299441.3	-	6	3533	c.3122C>A	c.(3121-3123)gCa>gAa	p.A1041E	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1041	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGCTACTTGCTCCCTCTGC	0.597																																						uc001mem.1		NA																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(3121-3123)GCA>GAA		dachsous 1 precursor							55.0	54.0	54.0					11																	6653621		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6653621G>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3122C>A	11.37:g.6653621G>T	ENSP00000299441:p.Ala1041Glu						p.A1041E	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	3532	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1041			Cadherin 10.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.3122C>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	7.473	0.647000	0.14516	.	.	ENSG00000166341	ENST00000299441	T	0.48522	0.81	4.51	4.51	0.55191	Cadherin (4);Cadherin-like (1);	0.306471	0.23342	N	0.049239	T	0.31071	0.0785	L	0.33624	1.015	0.31002	N	0.720185	B	0.25048	0.117	B	0.33295	0.161	T	0.35450	-0.9788	10	0.02654	T	1	.	6.0247	0.19648	0.096:0.0:0.701:0.203	.	1041	Q96JQ0	PCD16_HUMAN	E	1041	ENSP00000299441:A1041E	ENSP00000299441:A1041E	A	-	2	0	DCHS1	6610197	0.998000	0.40836	0.996000	0.52242	0.940000	0.58332	4.010000	0.57117	2.504000	0.84457	0.561000	0.74099	GCA		0.597	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		15	38	1	0	2.23e-06	2.37e-06	15	38				
SLC15A3	51296	broad.mit.edu	37	11	60709581	60709581	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr11:60709581G>C	ENST00000227880.3	-	4	1266	c.1033C>G	c.(1033-1035)Cac>Gac	p.H345D		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	345					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						TTTGGGATGTGGAGGTGAAGA	0.577																																						uc001nqn.2		NA																	0					0						c.(1033-1035)CAC>GAC		solute carrier family 15, member 3							198.0	180.0	186.0					11																	60709581		2203	4299	6502	SO:0001583	missense	51296				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr11:60709581G>C	AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"""Solute carriers"""	18068	protein-coding gene	gene with protein product		610408	"""solute carrier family 15, member 3"""			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.1033C>G	11.37:g.60709581G>C	ENSP00000227880:p.His345Asp					SLC15A3_uc001nqo.2_Missense_Mutation_p.H345D	p.H345D	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN			4	1267	-			345					Q9P2X9	Missense_Mutation	SNP	ENST00000227880.3	37	c.1033C>G	CCDS7998.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992785	0.35131	.	.	ENSG00000110446	ENST00000227880;ENST00000536491	T;T	0.03580	3.88;3.88	4.39	3.48	0.39840	Major facilitator superfamily domain, general substrate transporter (1);	0.593936	0.16446	N	0.214088	T	0.01287	0.0042	N	0.04063	-0.285	0.29444	N	0.858966	B;B	0.32010	0.053;0.351	B;B	0.25614	0.052;0.062	T	0.33445	-0.9868	10	0.02654	T	1	-16.5112	3.9677	0.09439	0.1912:0.0:0.6188:0.1901	.	345;345	F5H1C8;Q8IY34	.;S15A3_HUMAN	D	345;158	ENSP00000227880:H345D;ENSP00000439535:H158D	ENSP00000227880:H345D	H	-	1	0	SLC15A3	60466157	0.984000	0.35163	0.998000	0.56505	0.811000	0.45836	3.530000	0.53539	1.458000	0.47871	0.561000	0.74099	CAC		0.577	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	NM_016582		33	111	0	0	0	0	33	111				
SLC6A13	6540	broad.mit.edu	37	12	330578	330578	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:330578G>A	ENST00000343164.4	-	14	1702	c.1650C>T	c.(1648-1650)ctC>ctT	p.L550L	SLC6A13_ENST00000539668.1_5'Flank|SLC6A13_ENST00000445055.2_Silent_p.L458L	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	550					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CGAGTCTGTAGAGGCTCCAGG	0.632																																						uc001qic.1		NA																	0					0						c.(1648-1650)CTC>CTT		solute carrier family 6 (neurotransmitter							41.0	42.0	42.0					12																	330578		2203	4300	6503	SO:0001819	synonymous_variant	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:330578G>A	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1650C>T	12.37:g.330578G>A						SLC6A13_uc009zdj.1_Silent_p.L540L|SLC6A13_uc010sdl.1_Silent_p.L458L	p.L550L	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		14	1703	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		550			Cytoplasmic (Potential).		B4DJL1|Q8TCC2|Q8WW56	Silent	SNP	ENST00000343164.4	37	c.1650C>T	CCDS8502.1																																																																																				0.632	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		8	15	0	0	0	0	8	15				
TAS2R7	50837	broad.mit.edu	37	12	10954990	10954990	+	Silent	SNP	G	G	A	rs566735298		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:10954990G>A	ENST00000240687.2	-	1	236	c.180C>T	c.(178-180)tgC>tgT	p.C60C		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	60					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						ATAGTATTACGCACAATAGAC	0.378																																						uc001qyv.2		NA																	0				skin(1)	1						c.(178-180)TGC>TGT		taste receptor, type 2, member 7							94.0	95.0	94.0					12																	10954990		2203	4300	6503	SO:0001819	synonymous_variant	50837				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10954990G>A	AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.180C>T	12.37:g.10954990G>A							p.C60C	NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN			1	237	-			60			Helical; Name=2; (Potential).		Q645Y1	Silent	SNP	ENST00000240687.2	37	c.180C>T	CCDS8631.1																																																																																				0.378	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399931.1			26	64	0	0	0	0	26	64				
CEP290	80184	broad.mit.edu	37	12	88480186	88480186	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:88480186T>C	ENST00000552810.1	-	33	4627	c.4284A>G	c.(4282-4284)atA>atG	p.I1428M	CEP290_ENST00000397838.3_Missense_Mutation_p.I488M|CEP290_ENST00000547691.2_Missense_Mutation_p.I488M|CEP290_ENST00000309041.7_Missense_Mutation_p.I1430M	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1428					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CCGCATTTAGTATTTCATTTT	0.363																																						uc001tar.2		NA																	0				ovary(5)|breast(1)|pancreas(1)	7						c.(4282-4284)ATA>ATG		centrosomal protein 290kDa							114.0	106.0	108.0					12																	88480186		1847	4087	5934	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88480186T>C	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.4284A>G	12.37:g.88480186T>C	ENSP00000448012:p.Ile1428Met					CEP290_uc001taq.2_Missense_Mutation_p.I488M	p.I1428M	NM_025114	NP_079390	O15078	CE290_HUMAN			33	4628	-			1428			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.4284A>G	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.334957	0.41398	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.69435	0.21;-0.4;-0.4;0.21	6.03	4.88	0.63580	.	0.140431	0.64402	D	0.000005	T	0.59810	0.2221	L	0.53249	1.67	0.33994	D	0.649466	B	0.34290	0.447	B	0.36030	0.216	T	0.67499	-0.5655	10	0.38643	T	0.18	.	7.8902	0.29674	0.0:0.068:0.1393:0.7927	.	1428	O15078	CE290_HUMAN	M	488;1428;1430;488	ENSP00000446905:I488M;ENSP00000448012:I1428M;ENSP00000308021:I1430M;ENSP00000380938:I488M	ENSP00000308021:I1430M	I	-	3	3	CEP290	87004317	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.618000	0.24373	1.082000	0.41137	0.455000	0.32223	ATA		0.363	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		5	17	0	0	0	0	5	17				
UTP20	27340	broad.mit.edu	37	12	101748816	101748816	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:101748816A>G	ENST00000261637.4	+	41	5488	c.5314A>G	c.(5314-5316)Ata>Gta	p.I1772V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1772					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAAGGAAGAAATAGAGAGAAC	0.433																																						uc001tia.1		NA																	0				ovary(2)|breast(2)	4						c.(5314-5316)ATA>GTA		down-regulated in metastasis							55.0	54.0	54.0					12																	101748816		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101748816A>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5314A>G	12.37:g.101748816A>G	ENSP00000261637:p.Ile1772Val						p.I1772V	NM_014503	NP_055318	O75691	UTP20_HUMAN			41	5470	+			1772					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.5314A>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	A	6.052	0.378001	0.11466	.	.	ENSG00000120800	ENST00000261637	T	0.17054	2.3	5.79	-3.98	0.04082	Armadillo-type fold (1);	0.074347	0.56097	D	0.000033	T	0.06096	0.0158	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30880	-0.9963	10	0.24483	T	0.36	-4.639	8.1344	0.31046	0.1155:0.493:0.0:0.3916	.	1772	O75691	UTP20_HUMAN	V	1772	ENSP00000261637:I1772V	ENSP00000261637:I1772V	I	+	1	0	UTP20	100272947	0.777000	0.28628	0.357000	0.25798	0.060000	0.15804	0.043000	0.13971	-0.574000	0.05990	-1.822000	0.00598	ATA		0.433	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		8	47	0	0	0	0	8	47				
GNPTAB	79158	broad.mit.edu	37	12	102153816	102153816	+	Missense_Mutation	SNP	G	G	A	rs375783746		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:102153816G>A	ENST00000299314.7	-	16	3503	c.3241C>T	c.(3241-3243)Ccc>Tcc	p.P1081S		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1081					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ACCAGGTTGGGATCATAGTAG	0.388																																						uc001tit.2		NA																	0				ovary(1)|skin(1)	2						c.(3241-3243)CCC>TCC		N-acetylglucosamine-1-phosphate transferase		G	SER/PRO	1,4405		0,1,2202	178.0	162.0	167.0		3241	5.7	1.0	12		167	1,8599	1.2+/-3.3	0,1,4299	no	missense	GNPTAB	NM_024312.4	74	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	1081/1257	102153816	2,13004	2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102153816G>A	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.3241C>T	12.37:g.102153816G>A	ENSP00000299314:p.Pro1081Ser						p.P1081S	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN			16	3420	-			1081					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.3241C>T	CCDS9088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.16|11.16	1.556862|1.556862	0.27827|0.27827	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000111670|ENSG00000111670	ENST00000299314|ENST00000550718	D|.	0.95885|.	-3.84|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56499|0.56499	0.1989|0.1989	N|N	0.21194|0.21194	0.64|0.64	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.49360|0.49360	-0.8948|-0.8948	10|5	0.56958|.	D|.	0.05|.	-15.2748|-15.2748	19.8677|19.8677	0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1081|.	Q3T906|.	GNPTA_HUMAN|.	S|F	1081|18	ENSP00000299314:P1081S|.	ENSP00000299314:P1081S|.	P|S	-|-	1|2	0|0	GNPTAB|GNPTAB	100677947|100677947	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.834000|0.834000	0.47266|0.47266	9.444000|9.444000	0.97578|0.97578	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.388	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			15	47	0	0	0	0	15	47				
TRPV4	59341	broad.mit.edu	37	12	110240837	110240837	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:110240837C>A	ENST00000418703.2	-	3	765	c.671G>T	c.(670-672)aGg>aTg	p.R224M	TRPV4_ENST00000541794.1_Missense_Mutation_p.R224M|TRPV4_ENST00000544971.1_Missense_Mutation_p.R224M|TRPV4_ENST00000261740.2_Missense_Mutation_p.R224M|TRPV4_ENST00000392719.2_Missense_Mutation_p.R224M|TRPV4_ENST00000537083.1_Missense_Mutation_p.R224M|TRPV4_ENST00000536838.1_Missense_Mutation_p.R190M|TRPV4_ENST00000346520.2_Missense_Mutation_p.R224M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	224					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AATGAACTCCCTCATGTTGCC	0.632																																						uc001tpj.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(670-672)AGG>ATG		transient receptor potential cation channel,							107.0	88.0	94.0					12																	110240837		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110240837C>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.671G>T	12.37:g.110240837C>A	ENSP00000406191:p.Arg224Met					TRPV4_uc001tpg.1_Missense_Mutation_p.R190M|TRPV4_uc001tph.1_Missense_Mutation_p.R224M|TRPV4_uc001tpi.1_Missense_Mutation_p.R224M|TRPV4_uc001tpk.1_Missense_Mutation_p.R224L|TRPV4_uc001tpl.1_Missense_Mutation_p.R224L	p.R224M	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			3	766	-			224			Cytoplasmic (Potential).		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.671G>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630629	0.87660	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.90004	-2.57;-2.57;-2.43;-2.6;-2.43;-2.6;-2.43;-2.55	4.51	4.51	0.55191	.	0.101842	0.64402	D	0.000003	D	0.92420	0.7594	L	0.54323	1.7	0.40796	D	0.983296	D;D;D;D;D	0.71674	0.983;0.998;0.996;0.993;0.989	P;P;D;D;P	0.67725	0.838;0.861;0.953;0.936;0.754	D	0.93631	0.6956	10	0.72032	D	0.01	-25.4655	16.1842	0.81939	0.0:1.0:0.0:0.0	.	224;224;224;224;190	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	M	224;224;224;224;224;224;224;190	ENSP00000406191:R224M;ENSP00000261740:R224M;ENSP00000376480:R224M;ENSP00000319003:R224M;ENSP00000443611:R224M;ENSP00000442738:R224M;ENSP00000442167:R224M;ENSP00000444336:R190M	ENSP00000261740:R224M	R	-	2	0	TRPV4	108725220	0.002000	0.14202	0.972000	0.41901	0.884000	0.51177	0.652000	0.24888	2.228000	0.72767	0.561000	0.74099	AGG		0.632	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		15	29	1	0	4.75e-09	5.22e-09	15	29				
SPPL3	121665	broad.mit.edu	37	12	121206162	121206162	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:121206162G>C	ENST00000353487.2	-	8	1242	c.739C>G	c.(739-741)Cgc>Ggc	p.R247G		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	248						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGAGACAGGCGAGGAACATCA	0.562																																						uc001tzd.2		NA																	0					0						c.(739-741)CGC>GGC		signal peptide peptidase 3							126.0	116.0	120.0					12																	121206162		2203	4300	6503	SO:0001583	missense	121665					integral to membrane	aspartic-type endopeptidase activity	g.chr12:121206162G>C		CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"""intramembrane protease 2"", ""presenilin-like protein 4"""	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.739C>G	12.37:g.121206162G>C	ENSP00000288680:p.Arg247Gly					SPPL3_uc009zwz.2_Missense_Mutation_p.R240G|SPPL3_uc001tzc.2_Missense_Mutation_p.R77G	p.R247G	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN			8	1220	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		248					Q3MJ04|Q8TAU4|Q96DD9	Missense_Mutation	SNP	ENST00000353487.2	37	c.739C>G	CCDS9208.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532437	0.64972	.	.	ENSG00000157837	ENST00000353487;ENST00000405631	T	0.19105	2.17	5.35	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.13884	0.0336	N	0.12471	0.22	0.80722	D	1	P;P	0.38992	0.633;0.653	B;B	0.41619	0.316;0.361	T	0.07385	-1.0775	10	0.66056	D	0.02	-29.704	8.9846	0.35986	0.0741:0.0:0.7792:0.1467	.	248;247	Q8TCT6;Q3MJ04	PSL4_HUMAN;.	G	247;246	ENSP00000288680:R247G	ENSP00000288680:R247G	R	-	1	0	AC069214.1	119690545	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.115000	0.71566	1.260000	0.44134	0.591000	0.81541	CGC		0.562	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402980.2	NM_139015		26	99	0	0	0	0	26	99				
WASF3	10810	broad.mit.edu	37	13	27257005	27257005	+	Silent	SNP	G	G	A	rs148684191		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr13:27257005G>A	ENST00000335327.5	+	9	1423	c.1245G>A	c.(1243-1245)tcG>tcA	p.S415S	WASF3_ENST00000361042.4_Silent_p.S412S	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	415			S -> L (in dbSNP:rs17084492).		actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTTCTCTTTCGTCCTCCCCAA	0.677																																						uc001uqv.2		NA																	0				pancreas(1)	1						c.(1243-1245)TCG>TCA		WAS protein family, member 3		G		0,4398		0,0,2199	53.0	64.0	60.0		1245	-10.0	0.1	13	dbSNP_134	60	1,8585		0,1,4292	no	coding-synonymous	WASF3	NM_006646.5		0,1,6491	AA,AG,GG		0.0116,0.0,0.0077		415/503	27257005	1,12983	2199	4293	6492	SO:0001819	synonymous_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27257005G>A	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1245G>A	13.37:g.27257005G>A						WASF3_uc001uqw.2_Silent_p.S412S	p.S415S	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	9	1470	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	415					O94974|Q86VQ2	Silent	SNP	ENST00000335327.5	37	c.1245G>A	CCDS9318.1																																																																																				0.677	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			27	91	0	0	0	0	27	91				
DOCK9	23348	broad.mit.edu	37	13	99476709	99476709	+	Silent	SNP	G	G	T	rs376858589		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr13:99476709G>T	ENST00000376460.1	-	46	5153	c.5073C>A	c.(5071-5073)atC>atA	p.I1691I	DOCK9_ENST00000339416.2_Silent_p.I1692I|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1692	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTCCTCGTCGATGTTTGGGG	0.537																																						uc001vnt.2		NA																	0				central_nervous_system(1)	1						c.(5074-5076)ATC>ATA		dedicator of cytokinesis 9 isoform a							156.0	151.0	153.0					13																	99476709		2013	4162	6175	SO:0001819	synonymous_variant	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99476709G>T	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.5073C>A	13.37:g.99476709G>T						DOCK9_uc001vnw.2_Silent_p.I1691I|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.I1669I|DOCK9_uc001vnq.2_Silent_p.I241I|DOCK9_uc001vnr.2_Silent_p.I335I|DOCK9_uc010tin.1_Silent_p.I312I|DOCK9_uc001vns.2_Silent_p.I241I|DOCK9_uc010tio.1_Silent_p.I361I|DOCK9_uc010tip.1_Silent_p.I402I|DOCK9_uc001vnu.1_Silent_p.I241I|DOCK9_uc010tiq.1_Silent_p.I647I	p.I1692I	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			46	5131	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1692			DHR-2.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	ENST00000376460.1	37	c.5076C>A	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	G	8.079	0.771962	0.16051	.	.	ENSG00000088387	ENST00000419908	.	.	.	5.43	-8.91	0.00778	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2153	0.59856	0.2188:0.0:0.6352:0.146	.	.	.	.	X	109	.	.	S	-	2	0	DOCK9	98274710	0.059000	0.20769	0.058000	0.19502	0.765000	0.43378	-0.773000	0.04689	-2.050000	0.00905	-0.262000	0.10625	TCG		0.537	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		32	111	1	0	1.36e-19	1.56e-19	32	111				
METTL21C	196541	broad.mit.edu	37	13	103343240	103343240	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr13:103343240C>T	ENST00000267273.6	-	2	210	c.205G>A	c.(205-207)Gag>Aag	p.E69K		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	69					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						CGATAATGCTCCTGAGTGTAG	0.448																																						uc001vpj.2		NA																	0					0						c.(205-207)GAG>AAG		hypothetical protein LOC196541							169.0	149.0	156.0					13																	103343240		2203	4300	6503	SO:0001583	missense	196541						methyltransferase activity	g.chr13:103343240C>T		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.205G>A	13.37:g.103343240C>T	ENSP00000267273:p.Glu69Lys					C13orf39_uc001vpk.2_Missense_Mutation_p.E69K	p.E69K	NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN			2	211	-			69						Missense_Mutation	SNP	ENST00000267273.6	37	c.205G>A	CCDS32003.1	.	.	.	.	.	.	.	.	.	.	C	35	5.472970	0.96274	.	.	ENSG00000139780	ENST00000267273	T	0.15487	2.42	6.16	6.16	0.99307	.	0.093754	0.64402	D	0.000001	T	0.30885	0.0779	L	0.29908	0.895	0.58432	D	0.999999	D	0.76494	0.999	D	0.69654	0.965	T	0.00593	-1.1654	10	0.24483	T	0.36	-8.8897	19.848	0.96722	0.0:1.0:0.0:0.0	.	69	Q5VZV1	MT21C_HUMAN	K	69	ENSP00000267273:E69K	ENSP00000267273:E69K	E	-	1	0	METTL21C	102141241	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	3.379000	0.52440	2.937000	0.99478	0.650000	0.86243	GAG		0.448	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977		25	56	0	0	0	0	25	56				
MYH6	4624	broad.mit.edu	37	14	23862217	23862217	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr14:23862217C>T	ENST00000356287.3	-	23	3184	c.3155G>A	c.(3154-3156)cGa>cAa	p.R1052Q	MYH6_ENST00000405093.3_Missense_Mutation_p.R1052Q			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1052					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCGCTTTGCTCGCTCCAGGTC	0.488																																						uc001wjv.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(3154-3156)CGA>CAA		myosin heavy chain 6							122.0	107.0	112.0					14																	23862217		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23862217C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3155G>A	14.37:g.23862217C>T	ENSP00000348634:p.Arg1052Gln						p.R1052Q	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	24	3222	-	all_cancers(95;2.54e-05)		1052			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.3155G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	35	5.470725	0.96274	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.94828	-3.53;-3.53	4.82	4.82	0.62117	.	.	.	.	.	D	0.97942	0.9323	M	0.92833	3.35	0.58432	D	0.99999	D	0.89917	1.0	D	0.85130	0.997	D	0.99143	1.0856	9	0.87932	D	0	.	18.2902	0.90127	0.0:1.0:0.0:0.0	.	1052	P13533	MYH6_HUMAN	Q	1052	ENSP00000386041:R1052Q;ENSP00000348634:R1052Q	ENSP00000348634:R1052Q	R	-	2	0	MYH6	22932057	0.601000	0.26907	0.998000	0.56505	0.985000	0.73830	5.753000	0.68736	2.391000	0.81399	0.557000	0.71058	CGA		0.488	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			31	73	0	0	0	0	31	73				
RTF1	23168	broad.mit.edu	37	15	41750014	41750014	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr15:41750014A>G	ENST00000389629.4	+	4	614	c.602A>G	c.(601-603)gAg>gGg	p.E201G		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	201	Glu-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CAGATGACAGAGAAAGAGAGA	0.517																																						uc001zny.2		NA																	0				ovary(2)	2						c.(601-603)GAG>GGG		Paf1/RNA polymerase II complex component							147.0	146.0	146.0					15																	41750014		2203	4300	6503	SO:0001583	missense	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41750014A>G	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.602A>G	15.37:g.41750014A>G	ENSP00000374280:p.Glu201Gly						p.E201G	NM_015138	NP_055953	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	4	614	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	201			Glu-rich.		Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	c.602A>G	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	A	28.9	4.958260	0.92726	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.80270	0.4592	M	0.81112	2.525	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.83220	-0.0069	9	0.87932	D	0	-22.4507	15.9154	0.79512	1.0:0.0:0.0:0.0	.	201	Q92541	RTF1_HUMAN	G	201	.	ENSP00000374280:E201G	E	+	2	0	RTF1	39537306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.178000	0.69098	0.533000	0.62120	GAG		0.517	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		27	71	0	0	0	0	27	71				
IGDCC3	9543	broad.mit.edu	37	15	65621833	65621833	+	Silent	SNP	T	T	G	rs375413312		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr15:65621833T>G	ENST00000327987.4	-	13	2351	c.2100A>C	c.(2098-2100)ggA>ggC	p.G700G	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	700					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCCCCGCTGTCCCCGTCTCG	0.647																																						uc002aos.2		NA																	0				ovary(3)	3						c.(2098-2100)GGA>GGC		putative neuronal cell adhesion molecule		G		0,4394		0,0,2197	38.0	45.0	43.0		2100	-8.0	0.0	15		43	1,8579		0,1,4289	no	coding-synonymous	IGDCC3	NM_004884.3		0,1,6486	GG,GT,TT		0.0117,0.0,0.0077		700/815	65621833	1,12973	2197	4290	6487	SO:0001819	synonymous_variant	9543							g.chr15:65621833T>G	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2100A>C	15.37:g.65621833T>G						IGDCC3_uc002aor.1_5'UTR	p.G700G	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN			13	2352	-			700			Cytoplasmic (Potential).		O95215	Silent	SNP	ENST00000327987.4	37	c.2100A>C	CCDS10205.1																																																																																				0.647	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		33	59	0	0	0	0	33	59				
ACAN	176	broad.mit.edu	37	15	89398654	89398654	+	Silent	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr15:89398654C>T	ENST00000561243.1	+	11	2838	c.2838C>T	c.(2836-2838)ggC>ggT	p.G946G	ACAN_ENST00000439576.2_Silent_p.G946G|ACAN_ENST00000352105.7_Silent_p.G946G|ACAN_ENST00000559004.1_Silent_p.G946G			P16112	PGCA_HUMAN	aggrecan	945	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCCTAGAGGGCTCTGCCTCTG	0.557																																						uc010upo.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2836-2838)GGC>GGT		aggrecan isoform 2 precursor							63.0	68.0	66.0					15																	89398654		1873	4113	5986	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398654C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2838C>T	15.37:g.89398654C>T						ACAN_uc010upp.1_Silent_p.G946G|ACAN_uc002bna.2_RNA	p.G946G	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	3212	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		946					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.2838C>T	CCDS53970.1																																																																																				0.557	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		21	63	0	0	0	0	21	63				
FES	2242	broad.mit.edu	37	15	91433462	91433462	+	Missense_Mutation	SNP	C	C	T	rs200860946	byFrequency	TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr15:91433462C>T	ENST00000328850.3	+	9	1332	c.1190C>T	c.(1189-1191)cCg>cTg	p.P397L	FES_ENST00000448367.1_3'UTR|FES_ENST00000414248.2_Missense_Mutation_p.P339L|FES_ENST00000394302.1_Missense_Mutation_p.P339L|FES_ENST00000450438.2_Missense_Mutation_p.P339L|FES_ENST00000394300.3_Missense_Mutation_p.P339L|FES_ENST00000444422.2_Missense_Mutation_p.P397L	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	397					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCGAGCCCCCGCCTGTGCTG	0.726																																						uc002bpv.2		NA																	0				lung(2)	2						c.(1189-1191)CCG>CTG		feline sarcoma oncogene isoform 1							9.0	15.0	13.0					15																	91433462		2137	4205	6342	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91433462C>T	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1190C>T	15.37:g.91433462C>T	ENSP00000331504:p.Pro397Leu					FES_uc010uqj.1_Missense_Mutation_p.P339L|FES_uc010uqk.1_Missense_Mutation_p.P379L|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.P339L|FES_uc002bpx.2_Missense_Mutation_p.P397L|FES_uc002bpy.2_Missense_Mutation_p.P339L	p.P397L	NM_002005	NP_001996	P07332	FES_HUMAN	Lung(145;0.229)		9	1286	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		397					B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.1190C>T	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998762	0.54147	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T	0.79940	-1.21;-1.07;-1.32;-1.06;-1.16;-1.07	5.04	3.15	0.36227	.	0.050891	0.85682	D	0.000000	D	0.84183	0.5416	L	0.60455	1.87	0.58432	D	0.999999	P;D;B;D;D;P	0.76494	0.952;0.998;0.008;0.984;0.999;0.952	P;P;B;P;D;P	0.63793	0.609;0.839;0.002;0.781;0.918;0.609	T	0.83293	-0.0032	10	0.87932	D	0	-25.8666	7.9218	0.29850	0.1315:0.7267:0.0:0.1418	.	379;339;339;339;397;397	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	L	397;339;339;397;339;339	ENSP00000331504:P397L;ENSP00000414629:P339L;ENSP00000377839:P339L;ENSP00000400868:P397L;ENSP00000377837:P339L;ENSP00000409915:P339L	ENSP00000331504:P397L	P	+	2	0	FES	89234466	0.490000	0.26012	0.655000	0.29622	0.190000	0.23558	1.030000	0.30153	0.713000	0.32060	0.650000	0.86243	CCG		0.726	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		11	22	0	0	0	0	11	22				
RAB40C	57799	broad.mit.edu	37	16	640410	640410	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:640410A>G	ENST00000248139.3	+	1	322	c.119A>G	c.(118-120)gAg>gGg	p.E40G	RAB40C_ENST00000535977.1_Missense_Mutation_p.E40G|RAB40C_ENST00000538492.1_Missense_Mutation_p.E40G|RAB40C_ENST00000539661.1_Missense_Mutation_p.E40G	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	40					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GGCGCGGCAGAGTCCCCGTAC	0.716																																					Melanoma(123;1631 1690 28262 44104 44957)	uc002chr.2		NA																	0					0						c.(118-120)GAG>GGG		RAB40C, member RAS oncogene family							46.0	35.0	39.0					16																	640410		2201	4297	6498	SO:0001583	missense	57799				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr16:640410A>G	Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"""RAB, member RAS oncogene"""	18285	protein-coding gene	gene with protein product			"""RAS-like, family 8, member C"""	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.119A>G	16.37:g.640410A>G	ENSP00000248139:p.Glu40Gly					RAB40C_uc002chq.2_Missense_Mutation_p.E40G	p.E40G	NM_021168	NP_066991	Q96S21	RB40C_HUMAN			1	235	+		Hepatocellular(780;0.0218)	40					A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Missense_Mutation	SNP	ENST00000248139.3	37	c.119A>G	CCDS10413.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.375688	0.61735	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	3.68	2.46	0.29980	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	T	0.70570	0.3239	N	0.20845	0.615	0.58432	D	0.999999	P;P	0.45768	0.866;0.65	P;P	0.51974	0.686;0.497	T	0.71510	-0.4571	10	0.59425	D	0.04	.	8.7908	0.34850	0.8096:0.1903:0.0:0.0	.	40;40	Q96S21;Q5PXE8	RB40C_HUMAN;.	G	40	ENSP00000438492:E40G;ENSP00000445050:E40G;ENSP00000438382:E40G;ENSP00000248139:E40G	ENSP00000248139:E40G	E	+	2	0	RAB40C	580411	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	8.626000	0.90969	1.321000	0.45227	0.248000	0.18094	GAG		0.716	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	NM_021168		7	24	0	0	0	0	7	24				
PTX4	390667	broad.mit.edu	37	16	1538463	1538463	+	Intron	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:1538463C>T	ENST00000447419.2	-	1	167				PTX4_ENST00000293922.1_Silent_p.G2G|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long							extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						AGTTTCCACTCCCCATGACAC	0.652																																						uc010uvf.1		NA																	0					0						c.(4-6)GGG>GGA		neuronal pentraxin II-like							65.0	54.0	58.0					16																	1538463		2199	4300	6499	SO:0001627	intron_variant	390667					extracellular region	metal ion binding	g.chr16:1538463C>T		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.141+306G>A	16.37:g.1538463C>T							p.G2G	NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN			1	6	-			Error:Variant_position_missing_in_Q96A99_after_alignment						Silent	SNP	ENST00000447419.2	37	c.6G>A																																																																																					0.652	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		3	33	0	0	0	0	3	33				
CREBBP	1387	broad.mit.edu	37	16	3781253	3781253	+	Silent	SNP	G	G	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:3781253G>C	ENST00000262367.5	-	30	5921	c.5112C>G	c.(5110-5112)gtC>gtG	p.V1704V	CREBBP_ENST00000382070.3_Silent_p.V1666V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1704	Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCAGGTGTAGACAAAGCGGT	0.662			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NA		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(5110-5112)GTC>GTG		CREB binding protein isoform a							89.0	71.0	77.0					16																	3781253		2197	4300	6497	SO:0001819	synonymous_variant	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3781253G>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5112C>G	16.37:g.3781253G>C						CREBBP_uc002cvw.2_Silent_p.V1666V	p.V1704V	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	30	5316	-		Ovarian(90;0.0266)	1704			Interaction with TRERF1.|ZZ-type.		D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.5112C>G	CCDS10509.1																																																																																				0.662	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		13	57	0	0	0	0	13	57				
CLEC16A	23274	broad.mit.edu	37	16	11114117	11114117	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:11114117G>A	ENST00000409790.1	+	12	1601	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E	CLEC16A_ENST00000409552.3_Silent_p.E439E	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCGTGCAGGAGCAGAACACCA	0.597																																						uc002dao.2		NA																	1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	ovary(1)|central_nervous_system(1)	2						c.(1369-1371)GAG>GAA		C-type lectin domain family 16, member A							33.0	37.0	36.0					16																	11114117		1995	4170	6165	SO:0001819	synonymous_variant	23274							g.chr16:11114117G>A	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1371G>A	16.37:g.11114117G>A						CLEC16A_uc002dan.3_Silent_p.E439E	p.E457E	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			12	1601	+			457						Silent	SNP	ENST00000409790.1	37	c.1371G>A	CCDS45409.1																																																																																				0.597	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		11	28	0	0	0	0	11	28				
LOC81691	81691	broad.mit.edu	37	16	20856094	20856094	+	Silent	SNP	C	C	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:20856094C>G	ENST00000261377.6	+	17	2072	c.1863C>G	c.(1861-1863)ctC>ctG	p.L621L	AC004381.6_ENST00000564274.1_Silent_p.L621L|AC004381.6_ENST00000348433.6_Silent_p.L590L|ERI2_ENST00000564349.1_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					AGCCCCGCCTCTTTCTTGGCC	0.428																																						uc002dhv.2		NA																	0				ovary(1)|kidney(1)	2						c.(1861-1863)CTC>CTG		exonuclease NEF-sp isoform 1							78.0	86.0	83.0					16																	20856094		2201	4299	6500	SO:0001819	synonymous_variant	81691					nucleolus	exonuclease activity|nucleotide binding|RNA binding	g.chr16:20856094C>G																												ENST00000261377.6:c.1863C>G	16.37:g.20856094C>G						ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Silent_p.L590L|LOC81691_uc002dhw.2_Silent_p.L364L|LOC81691_uc002dhy.3_Silent_p.L621L	p.L621L	NM_030941	NP_112203	Q96IC2	REXON_HUMAN			17	2126	+			621			RRM 2.			Silent	SNP	ENST00000261377.6	37	c.1863C>G	CCDS10591.1																																																																																				0.428	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			29	82	0	0	0	0	29	82				
ZKSCAN2	342357	broad.mit.edu	37	16	25258086	25258086	+	Silent	SNP	G	G	A	rs149172025		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:25258086G>A	ENST00000328086.7	-	5	2234	c.1431C>T	c.(1429-1431)atC>atT	p.I477I		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	477					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGATAAATTCGATGCCTATTT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		21863	0.001		0.0	False		,,,				2504	0.0					uc002dod.3		NA																	0				ovary(3)|breast(1)	4						c.(1429-1431)ATC>ATT		zinc finger with KRAB and SCAN domains 2							148.0	138.0	142.0					16																	25258086		2197	4300	6497	SO:0001819	synonymous_variant	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25258086G>A	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1431C>T	16.37:g.25258086G>A						ZKSCAN2_uc010vcl.1_Silent_p.I273I|ZKSCAN2_uc002doe.2_Silent_p.I477I	p.I477I	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	5	1838	-			477					A1L3B4|Q6ZN77	Silent	SNP	ENST00000328086.7	37	c.1431C>T	CCDS32410.1																																																																																				0.448	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		28	92	0	0	0	0	28	92				
SETD1A	9739	broad.mit.edu	37	16	30980949	30980949	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:30980949G>A	ENST00000262519.8	+	12	3641	c.2955G>A	c.(2953-2955)gaG>gaA	p.E985E		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	985	Glu-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGGAAGATGAGGAAGATGAAG	0.507																																						uc002ead.1		NA																	0				ovary(2)|skin(1)	3						c.(2953-2955)GAG>GAA		SET domain containing 1A							125.0	94.0	104.0					16																	30980949		2197	4300	6497	SO:0001819	synonymous_variant	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30980949G>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2955G>A	16.37:g.30980949G>A							p.E985E	NM_014712	NP_055527	O15047	SET1A_HUMAN			12	3641	+			985			Glu-rich.		A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	c.2955G>A	CCDS32435.1																																																																																				0.507	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		7	31	0	0	0	0	7	31				
TAF1C	9013	broad.mit.edu	37	16	84217036	84217036	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:84217036C>T	ENST00000567759.1	-	4	480	c.298G>A	c.(298-300)Gtg>Atg	p.V100M	TAF1C_ENST00000541676.1_Missense_Mutation_p.V33M|TAF1C_ENST00000565544.1_5'Flank|TAF1C_ENST00000378541.4_Missense_Mutation_p.V100M|TAF1C_ENST00000341690.6_Missense_Mutation_p.V33M|TAF1C_ENST00000570117.1_Intron|TAF1C_ENST00000566732.1_Missense_Mutation_p.V100M	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	100					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						ACATCCAGCACGACTCGGGGC	0.637																																						uc002fhn.2		NA																	0				ovary(1)	1						c.(298-300)GTG>ATG		TBP-associated factor 1C isoform 1							41.0	36.0	37.0					16																	84217036		2200	4300	6500	SO:0001583	missense	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84217036C>T	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.298G>A	16.37:g.84217036C>T	ENSP00000455265:p.Val100Met					TAF1C_uc002fhm.2_Missense_Mutation_p.V33M|TAF1C_uc010vnx.1_Missense_Mutation_p.V100M|TAF1C_uc010vny.1_Translation_Start_Site|TAF1C_uc010vnz.1_Translation_Start_Site|TAF1C_uc002fho.2_Translation_Start_Site|TAF1C_uc010voa.1_Intron|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Missense_Mutation_p.V100M	p.V100M	NM_005679	NP_005670	Q15572	TAF1C_HUMAN			4	526	-			100					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	c.298G>A	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017853	0.54576	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000537450	T;T;T	0.45276	0.9;0.9;0.9	4.4	3.29	0.37713	.	0.815377	0.10398	N	0.679587	T	0.53834	0.1821	M	0.68317	2.08	0.09310	N	0.999996	D;D;D;D	0.69078	0.994;0.994;0.997;0.994	P;P;P;P	0.59948	0.814;0.814;0.866;0.814	T	0.39333	-0.9619	10	0.54805	T	0.06	-10.3358	4.5811	0.12259	0.0:0.7218:0.0:0.2782	.	100;100;100;33	F5H7W6;Q15572-6;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	M	100;33;33;100	ENSP00000367802:V100M;ENSP00000437900:V33M;ENSP00000345305:V33M	ENSP00000345305:V33M	V	-	1	0	TAF1C	82774537	0.132000	0.22450	0.566000	0.28421	0.738000	0.42128	0.727000	0.25999	0.965000	0.38133	0.563000	0.77884	GTG		0.637	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		8	16	0	0	0	0	8	16				
GEMIN4	50628	broad.mit.edu	37	17	649755	649755	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr17:649755C>T	ENST00000319004.5	-	2	1646	c.1528G>A	c.(1528-1530)Ggc>Agc	p.G510S	GEMIN4_ENST00000576778.1_Missense_Mutation_p.G499S	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	510					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCAGAGAGGCCCTTTCGCCCC	0.527																																						uc002frs.1		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1528-1530)GGC>AGC		gemin 4							41.0	43.0	42.0					17																	649755		1929	4135	6064	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:649755C>T	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1528G>A	17.37:g.649755C>T	ENSP00000321706:p.Gly510Ser						p.G510S	NM_015721	NP_056536	P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	2	1647	-		Myeloproliferative disorder(207;0.204)	510					Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.1528G>A	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284219	0.59867	.	.	ENSG00000179409	ENST00000319004	T	0.14893	2.47	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.22173	-1.0224	10	0.87932	D	0	-19.9739	18.8377	0.92169	0.0:1.0:0.0:0.0	.	510	P57678	GEMI4_HUMAN	S	510	ENSP00000321706:G510S	ENSP00000321706:G510S	G	-	1	0	GEMIN4	596505	1.000000	0.71417	0.999000	0.59377	0.093000	0.18481	7.423000	0.80229	2.779000	0.95612	0.591000	0.81541	GGC		0.527	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		14	25	0	0	0	0	14	25				
KIF1C	10749	broad.mit.edu	37	17	4926827	4926827	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr17:4926827C>T	ENST00000320785.5	+	23	3050	c.2693C>T	c.(2692-2694)gCa>gTa	p.A898V		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	898					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GGATCAGAGGCAGCAGAGGAG	0.637																																					Melanoma(96;1023 1447 10250 19259 33730)	uc002gan.1		NA																	0				breast(2)	2						c.(2692-2694)GCA>GTA		kinesin family member 1C							35.0	36.0	36.0					17																	4926827		2203	4300	6503	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4926827C>T	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.2693C>T	17.37:g.4926827C>T	ENSP00000320821:p.Ala898Val						p.A898V	NM_006612	NP_006603	O43896	KIF1C_HUMAN			23	3019	+			898					D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.2693C>T	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392420	0.25118	.	.	ENSG00000129250	ENST00000320785	T	0.74632	-0.86	4.89	1.6	0.23607	.	.	.	.	.	T	0.47857	0.1468	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27640	-1.0068	9	0.21014	T	0.42	.	3.4734	0.07575	0.1538:0.4206:0.3316:0.094	.	898	O43896	KIF1C_HUMAN	V	898	ENSP00000320821:A898V	ENSP00000320821:A898V	A	+	2	0	KIF1C	4867551	0.000000	0.05858	0.049000	0.19019	0.802000	0.45316	-0.693000	0.05121	0.647000	0.30713	0.563000	0.77884	GCA		0.637	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			11	35	0	0	0	0	11	35				
ZNF594	84622	broad.mit.edu	37	17	5086056	5086056	+	Missense_Mutation	SNP	C	C	T	rs553767305		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr17:5086056C>T	ENST00000399604.4	-	1	1636	c.1496G>A	c.(1495-1497)cGg>cAg	p.R499Q	ZNF594_ENST00000575779.1_Missense_Mutation_p.R499Q			Q96JF6	ZN594_HUMAN	zinc finger protein 594	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GAGTGAACGCCGCCTGAAGGC	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21498	0.0		0.0	False		,,,				2504	0.0					uc010cla.1		NA																	0				ovary(2)|skin(1)	3						c.(1495-1497)CGG>CAG		zinc finger protein 594							62.0	65.0	64.0					17																	5086056		2182	4288	6470	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5086056C>T	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1496G>A	17.37:g.5086056C>T	ENSP00000382513:p.Arg499Gln						p.R499Q	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	1652	-			499			C2H2-type 14.		Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.1496G>A	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.805245	0.00606	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.15017	2.46	1.45	-2.7	0.06004	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	N	0.21194	0.64	0.09310	N	1	P	0.36789	0.57	B	0.12156	0.007	T	0.37709	-0.9694	9	0.02654	T	1	.	6.1281	0.20189	0.0:0.2033:0.0:0.7967	.	499	Q96JF6	ZN594_HUMAN	Q	499;94	ENSP00000382513:R499Q	ENSP00000373874:R94Q	R	-	2	0	ZNF594	5026780	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.741000	0.00191	-0.869000	0.04052	-0.698000	0.03680	CGG		0.478	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		11	58	0	0	0	0	11	58				
KRBA2	124751	broad.mit.edu	37	17	8273377	8273377	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr17:8273377C>T	ENST00000331336.2	-	2	559	c.554G>A	c.(553-555)cGg>cAg	p.R185Q	RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|KRBA2_ENST00000396267.1_Missense_Mutation_p.R103Q|RP11-849F2.5_ENST00000583963.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	185					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TACATAATACCGTATTCGATC	0.443																																						uc002glf.1		NA																	0					0						c.(553-555)CGG>CAG		KRAB-A domain containing 2							193.0	175.0	181.0					17																	8273377		2203	4300	6503	SO:0001583	missense	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8273377C>T	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.554G>A	17.37:g.8273377C>T	ENSP00000328017:p.Arg185Gln					KRBA2_uc002glg.1_Missense_Mutation_p.R102Q	p.R185Q	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN			2	560	-			185					Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	c.554G>A	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	C	9.713	1.157480	0.21454	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.26223	1.75;1.8	2.42	1.42	0.22433	.	.	.	.	.	T	0.15652	0.0377	L	0.40543	1.245	0.19775	N	0.999957	P	0.36065	0.535	B	0.24701	0.055	T	0.14559	-1.0468	9	0.49607	T	0.09	.	5.4451	0.16531	0.0:0.8384:0.0:0.1616	.	185	Q6ZNG9	KRBA2_HUMAN	Q	103;185	ENSP00000379565:R103Q;ENSP00000328017:R185Q	ENSP00000328017:R185Q	R	-	2	0	KRBA2	8214102	0.000000	0.05858	0.520000	0.27837	0.648000	0.38561	-0.260000	0.08708	0.586000	0.29626	0.555000	0.69702	CGG		0.443	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		47	127	0	0	0	0	47	127				
MYO18A	399687	broad.mit.edu	37	17	27423781	27423781	+	Silent	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr17:27423781C>T	ENST00000527372.1	-	28	4563	c.4383G>A	c.(4381-4383)agG>agA	p.R1461R	MYO18A_ENST00000354329.4_Silent_p.R1461R|MYO18A_ENST00000531253.1_Silent_p.R1461R|MYO18A_ENST00000533112.1_Silent_p.R1461R	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1461					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCACCCACCTCCTCTGCTTCT	0.627																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NA																	0					0						c.(4381-4383)AGG>AGA		myosin 18A isoform a							33.0	37.0	36.0					17																	27423781		2017	4198	6215	SO:0001819	synonymous_variant	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27423781C>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4383G>A	17.37:g.27423781C>T						MYO18A_uc010wbc.1_Silent_p.R1003R|MYO18A_uc002hds.2_Silent_p.R1003R|MYO18A_uc010csa.1_Silent_p.R1461R|MYO18A_uc002hdu.1_Silent_p.R1461R|MYO18A_uc010wbd.1_Silent_p.R1130R	p.R1461R	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		28	4541	-			1461			Potential.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	37	c.4383G>A	CCDS45642.1																																																																																				0.627	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		3	10	0	0	0	0	3	10				
CETN1	1068	broad.mit.edu	37	18	580607	580607	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr18:580607G>C	ENST00000327228.3	+	1	241	c.199G>C	c.(199-201)Gaa>Caa	p.E67Q		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	67	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						ACCCAGGAAGGAAGAGATGAA	0.557																																						uc002kko.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(199-201)GAA>CAA		centrin 1							77.0	61.0	66.0					18																	580607		2203	4300	6503	SO:0001583	missense	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580607G>C	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.199G>C	18.37:g.580607G>C	ENSP00000319052:p.Glu67Gln						p.E67Q	NM_004066	NP_004057	Q12798	CETN1_HUMAN			1	241	+			67			EF-hand 2.		B2R536	Missense_Mutation	SNP	ENST00000327228.3	37	c.199G>C	CCDS11820.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.618061	0.46736	.	.	ENSG00000177143	ENST00000327228	T	0.73575	-0.76	5.2	5.2	0.72013	EF-hand-like domain (1);	0.059897	0.64402	D	0.000006	T	0.67841	0.2936	L	0.28400	0.85	0.80722	D	1	P	0.41947	0.766	B	0.42245	0.381	T	0.71337	-0.4623	10	0.56958	D	0.05	.	16.6478	0.85181	0.0:0.0:1.0:0.0	.	67	Q12798	CETN1_HUMAN	Q	67	ENSP00000319052:E67Q	ENSP00000319052:E67Q	E	+	1	0	CETN1	570607	1.000000	0.71417	0.999000	0.59377	0.098000	0.18820	9.629000	0.98417	2.882000	0.98803	0.655000	0.94253	GAA		0.557	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		10	34	0	0	0	0	10	34				
SMCHD1	23347	broad.mit.edu	37	18	2732451	2732451	+	Silent	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr18:2732451A>G	ENST00000320876.6	+	25	3575	c.3237A>G	c.(3235-3237)agA>agG	p.R1079R	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.R1079R	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1079					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAGGAGAAAGAGAAATCAATA	0.289																																						uc002klm.3		NA																	0					0						c.(3235-3237)AGA>AGG		structural maintenance of chromosomes flexible							55.0	51.0	52.0					18																	2732451		1810	4072	5882	SO:0001819	synonymous_variant	23347				chromosome organization		ATP binding	g.chr18:2732451A>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3237A>G	18.37:g.2732451A>G						SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	p.R1079R	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			25	3426	+			1079					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	ENST00000320876.6	37	c.3237A>G	CCDS45822.1																																																																																				0.289	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			6	28	0	0	0	0	6	28				
MIB1	57534	broad.mit.edu	37	18	19379870	19379870	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr18:19379870G>C	ENST00000261537.6	+	9	1570	c.1306G>C	c.(1306-1308)Gtt>Ctt	p.V436L	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	436					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGAAGAATTAGTTAAGGCTGC	0.348																																						uc002ktq.2		NA																	0				ovary(4)	4						c.(1306-1308)GTT>CTT		mindbomb homolog 1							106.0	108.0	108.0					18																	19379870		2203	4299	6502	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19379870G>C	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1306G>C	18.37:g.19379870G>C	ENSP00000261537:p.Val436Leu					MIB1_uc002ktp.2_Missense_Mutation_p.V75L	p.V436L	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		9	1306	+			436			ANK 1.		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.1306G>C	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185221	0.78677	.	.	ENSG00000101752	ENST00000261537	T	0.64085	-0.08	5.63	5.63	0.86233	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57666	0.2069	N	0.10733	0.035	0.80722	D	1	P	0.40032	0.699	P	0.51945	0.685	T	0.54483	-0.8287	10	0.20046	T	0.44	-24.9044	20.0529	0.97634	0.0:0.0:1.0:0.0	.	436	Q86YT6	MIB1_HUMAN	L	436	ENSP00000261537:V436L	ENSP00000261537:V436L	V	+	1	0	MIB1	17633868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.814000	0.96858	0.591000	0.81541	GTT		0.348	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		21	55	0	0	0	0	21	55				
SMAD2	4087	broad.mit.edu	37	18	45394805	45394805	+	Nonsense_Mutation	SNP	G	G	A	rs370352616		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr18:45394805G>A	ENST00000402690.2	-	5	938	c.544C>T	c.(544-546)Cga>Tga	p.R182*	SMAD2_ENST00000262160.6_Nonsense_Mutation_p.R182*|SMAD2_ENST00000356825.4_Nonsense_Mutation_p.R152*|SMAD2_ENST00000587353.1_5'UTR|SMAD2_ENST00000586040.1_Nonsense_Mutation_p.R152*|SMAD2_ENST00000591214.1_Nonsense_Mutation_p.R152*	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	182					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TCGGTGTGTCGGGGCACTAAT	0.438																																						uc002lcy.2		NA																	0				large_intestine(3)|lung(1)|central_nervous_system(1)	5						c.(544-546)CGA>TGA		Sma- and Mad-related protein 2 isoform 1							83.0	76.0	78.0					18																	45394805		2203	4300	6503	SO:0001587	stop_gained	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45394805G>A	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.544C>T	18.37:g.45394805G>A	ENSP00000384449:p.Arg182*					SMAD2_uc002lcz.2_Nonsense_Mutation_p.R182*|SMAD2_uc010xdc.1_Nonsense_Mutation_p.R152*|SMAD2_uc010xdd.1_Nonsense_Mutation_p.R152*	p.R182*	NM_005901	NP_005892	Q15796	SMAD2_HUMAN			5	792	-			182						Nonsense_Mutation	SNP	ENST00000402690.2	37	c.544C>T	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	G	40	8.217503	0.98712	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9474	0.97186	0.0:0.0:1.0:0.0	.	.	.	.	X	182;152;182	.	ENSP00000262160:R182X	R	-	1	2	SMAD2	43648803	1.000000	0.71417	0.972000	0.41901	0.900000	0.52787	5.083000	0.64456	2.774000	0.95407	0.655000	0.94253	CGA		0.438	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		12	44	0	0	0	0	12	44				
CD226	10666	broad.mit.edu	37	18	67563082	67563082	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr18:67563082T>A	ENST00000280200.4	-	4	850	c.582A>T	c.(580-582)caA>caT	p.Q194H	CD226_ENST00000577287.1_Missense_Mutation_p.Q39H|CD226_ENST00000582621.1_Missense_Mutation_p.Q194H|CD226_ENST00000581982.1_Missense_Mutation_p.Q39H	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	194	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TGCTCACTATTTGTCTTGGGA	0.542																																					NSCLC(184;838 2130 8673 21498 50749)	uc010dqo.2		NA																	0					0						c.(580-582)CAA>CAT		CD226 molecule precursor							117.0	103.0	108.0					18																	67563082		2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67563082T>A	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.582A>T	18.37:g.67563082T>A	ENSP00000280200:p.Gln194His					CD226_uc002lkm.3_Missense_Mutation_p.Q194H	p.Q194H	NM_006566	NP_006557	Q15762	CD226_HUMAN			3	1029	-		Esophageal squamous(42;0.129)	194			Ig-like C2-type 2.|Extracellular (Potential).		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.582A>T	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.825406	0.32237	.	.	ENSG00000150637	ENST00000280200	T	0.21361	2.01	4.82	-0.0305	0.13914	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.387744	0.26598	N	0.023486	T	0.18130	0.0435	L	0.50333	1.59	0.09310	N	1	B	0.24317	0.101	B	0.28916	0.096	T	0.20706	-1.0267	10	0.66056	D	0.02	.	7.2272	0.26022	0.0:0.3876:0.0:0.6124	.	194	Q15762	CD226_HUMAN	H	194	ENSP00000280200:Q194H	ENSP00000280200:Q194H	Q	-	3	2	CD226	65714062	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.423000	0.07034	-0.071000	0.12886	-0.297000	0.09499	CAA		0.542	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		41	75	0	0	0	0	41	75				
ZNF407	55628	broad.mit.edu	37	18	72343009	72343009	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr18:72343009G>A	ENST00000299687.5	+	1	34	c.34G>A	c.(34-36)Gag>Aag	p.E12K	ZNF407_ENST00000309902.6_Missense_Mutation_p.E12K|ZNF407_ENST00000577538.1_Missense_Mutation_p.E12K|ZNF407_ENST00000582337.1_Missense_Mutation_p.E12K	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CGAAAATGATGAGGATGAAAA	0.408																																						uc002llw.2		NA																	0				ovary(2)	2						c.(34-36)GAG>AAG		zinc finger protein 407 isoform 1							54.0	51.0	52.0					18																	72343009		1887	4106	5993	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343009G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.34G>A	18.37:g.72343009G>A	ENSP00000299687:p.Glu12Lys					ZNF407_uc010xfc.1_Missense_Mutation_p.E12K|ZNF407_uc010dqu.1_Missense_Mutation_p.E12K|ZNF407_uc002llu.2_Missense_Mutation_p.E11K	p.E12K	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	91	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	12					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.34G>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498777	0.64298	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.12255	2.7;3.1	5.06	5.06	0.68205	.	.	.	.	.	T	0.27765	0.0683	L	0.34521	1.04	0.38126	D	0.93801	D;D;D	0.71674	0.998;0.998;0.994	D;D;P	0.70487	0.961;0.969;0.878	T	0.10337	-1.0634	9	0.72032	D	0.01	.	16.9541	0.86253	0.0:0.0:1.0:0.0	.	12;12;12	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	K	12	ENSP00000299687:E12K;ENSP00000310359:E12K	ENSP00000299687:E12K	E	+	1	0	ZNF407	70471997	0.999000	0.42202	0.981000	0.43875	0.123000	0.20343	3.224000	0.51238	2.037000	0.60232	0.533000	0.62120	GAG		0.408	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		7	18	0	0	0	0	7	18				
NFATC1	4772	broad.mit.edu	37	18	77208983	77208983	+	Splice_Site	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr18:77208983G>A	ENST00000427363.2	+	4	1588	c.1588G>A	c.(1588-1590)Gtc>Atc	p.V530I	NFATC1_ENST00000397790.2_Splice_Site_p.V58I|NFATC1_ENST00000591814.1_Splice_Site_p.V530I|NFATC1_ENST00000587635.1_Splice_Site_p.V530I|NFATC1_ENST00000542384.1_Splice_Site_p.V530I|NFATC1_ENST00000253506.5_Splice_Site_p.V530I|NFATC1_ENST00000318065.5_Splice_Site_p.V517I|NFATC1_ENST00000329101.4_Splice_Site_p.V517I|NFATC1_ENST00000586434.1_Splice_Site_p.V517I|NFATC1_ENST00000545796.1_Splice_Site_p.V58I|NFATC1_ENST00000592223.1_Splice_Site_p.V517I			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	530	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)	CATGCGAGCCGTGTAAGCCGC	0.687																																					GBM(151;1210 2593 28719 45011)	uc010xfg.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(1588-1590)GTC>ATC		nuclear factor of activated T-cells, cytosolic							34.0	30.0	31.0					18																	77208983		2199	4294	6493	SO:0001630	splice_region_variant	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.chr18:77208983G>A	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.1589+1G>A	18.37:g.77208983G>A						NFATC1_uc002lnc.1_Missense_Mutation_p.V530I|NFATC1_uc010xff.1_Missense_Mutation_p.V530I|NFATC1_uc002lnd.2_Missense_Mutation_p.V530I|NFATC1_uc002lne.2_Missense_Mutation_p.V58I|NFATC1_uc010xfh.1_Missense_Mutation_p.V530I|NFATC1_uc010xfi.1_Missense_Mutation_p.V517I|NFATC1_uc010xfj.1_Missense_Mutation_p.V58I|NFATC1_uc002lnf.2_Missense_Mutation_p.V517I|NFATC1_uc002lng.2_Missense_Mutation_p.V517I|NFATC1_uc010xfk.1_Missense_Mutation_p.V517I	p.V530I	NM_006162	NP_006153	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	4	2041	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	530			RHD.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.1588G>A		.	.	.	.	.	.	.	.	.	.	G	5.288	0.238524	0.10023	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000397790;ENST00000542384;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	4.97	1.35	0.21983	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.466841	0.24111	N	0.041454	T	0.22003	0.0530	N	0.22421	0.69	0.20074	N	0.999934	B;B;B;B;B;B;B	0.11235	0.004;0.002;0.002;0.002;0.002;0.002;0.002	B;B;B;B;B;B;B	0.10450	0.005;0.005;0.003;0.005;0.005;0.004;0.003	T	0.25641	-1.0126	10	0.07990	T	0.79	-10.4658	7.638	0.28277	0.7254:0.0:0.2746:0.0	.	517;517;530;530;530;517;530	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	I	530;530;58;530;517;58;517;494	ENSP00000253506:V530I;ENSP00000380892:V58I;ENSP00000442435:V530I;ENSP00000327850:V517I;ENSP00000439992:V58I	ENSP00000253506:V530I	V	+	1	0	NFATC1	75309971	0.987000	0.35691	0.719000	0.30619	0.457000	0.32468	2.769000	0.47654	0.252000	0.21531	-0.302000	0.09304	GTC		0.687	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390	Missense_Mutation	8	27	0	0	0	0	8	27				
FUT5	2527	broad.mit.edu	37	19	5867522	5867522	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:5867522G>A	ENST00000588525.1	-	2	302	c.215C>T	c.(214-216)gCc>gTc	p.A72V	FUT5_ENST00000252675.5_Missense_Mutation_p.A72V	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	72					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GGTGGGGTGGGCAGGGGTCGC	0.662																																						uc002mdo.3		NA																	0					0						c.(214-216)GCC>GTC		fucosyltransferase 5							38.0	39.0	39.0					19																	5867522		2203	4299	6502	SO:0001583	missense	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867522G>A		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.215C>T	19.37:g.5867522G>A	ENSP00000466880:p.Ala72Val					FUT5_uc010duo.2_Missense_Mutation_p.A72V	p.A72V	NM_002034	NP_002025	Q11128	FUT5_HUMAN			2	303	-			72			Lumenal (Potential).		A8K4X2	Missense_Mutation	SNP	ENST00000588525.1	37	c.215C>T	CCDS12154.1	.	.	.	.	.	.	.	.	.	.	G	6.279	0.419613	0.11928	.	.	ENSG00000130383	ENST00000252675	T	0.26067	1.76	2.27	-0.275	0.12906	.	.	.	.	.	T	0.15739	0.0379	L	0.35854	1.095	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.30001	-0.9993	9	0.27785	T	0.31	.	3.0543	0.06179	0.1977:0.288:0.5142:0.0	.	72	Q11128	FUT5_HUMAN	V	72	ENSP00000252675:A72V	ENSP00000252675:A72V	A	-	2	0	FUT5	5818522	0.000000	0.05858	0.002000	0.10522	0.044000	0.14063	-1.563000	0.02154	-0.131000	0.11578	0.407000	0.27541	GCC		0.662	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		15	51	0	0	0	0	15	51				
ZNF440	126070	broad.mit.edu	37	19	11942501	11942501	+	Silent	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:11942501A>G	ENST00000304060.5	+	4	674	c.510A>G	c.(508-510)aaA>aaG	p.K170K		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTGGAGAGAAACCCAATGCTT	0.413																																						uc002msp.1		NA																	0					0						c.(508-510)AAA>AAG		zinc finger protein 440							117.0	120.0	119.0					19																	11942501		2203	4300	6503	SO:0001819	synonymous_variant	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11942501A>G	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.510A>G	19.37:g.11942501A>G							p.K170K	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN			4	666	+			170					Q8N1R9	Silent	SNP	ENST00000304060.5	37	c.510A>G	CCDS42503.1																																																																																				0.413	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		54	103	0	0	0	0	54	103				
ZNF443	10224	broad.mit.edu	37	19	12541096	12541096	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:12541096G>A	ENST00000301547.5	-	4	2087	c.1890C>T	c.(1888-1890)tcC>tcT	p.S630S	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	630					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GTCTATGCAAGGAACTGAGAG	0.403																																						uc002mtu.2		NA																	0				pancreas(1)	1						c.(1888-1890)TCC>TCT		zinc finger protein 443							70.0	76.0	74.0					19																	12541096		2199	4295	6494	SO:0001819	synonymous_variant	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12541096G>A	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1890C>T	19.37:g.12541096G>A							p.S630S	NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN			4	2088	-			630			C2H2-type 18.			Silent	SNP	ENST00000301547.5	37	c.1890C>T	CCDS32918.1																																																																																				0.403	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		22	96	0	0	0	0	22	96				
EPS15L1	58513	broad.mit.edu	37	19	16552783	16552783	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:16552783C>T	ENST00000248070.6	-	3	224	c.85G>A	c.(85-87)Gca>Aca	p.A29T	CTD-2013N17.4_ENST00000587343.1_RNA|EPS15L1_ENST00000455140.2_Missense_Mutation_p.A29T|EPS15L1_ENST00000535753.2_Missense_Mutation_p.A29T|EPS15L1_ENST00000594975.1_Missense_Mutation_p.A29T|EPS15L1_ENST00000597937.1_Missense_Mutation_p.A29T	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	29	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CCTGTGTATGCCGGATCGACC	0.512											OREG0025335	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ndz.1		NA																	0				ovary(3)|skin(2)	5						c.(85-87)GCA>ACA		epidermal growth factor receptor pathway							85.0	89.0	88.0					19																	16552783		2203	4300	6503	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16552783C>T	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.85G>A	19.37:g.16552783C>T	ENSP00000248070:p.Ala29Thr		OREG0025335	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	711	EPS15L1_uc002ndx.2_Missense_Mutation_p.A29T|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpf.1_5'UTR|EPS15L1_uc002nea.1_Missense_Mutation_p.A29T|EPS15L1_uc010eah.1_Missense_Mutation_p.A29T|EPS15L1_uc002nec.1_Missense_Mutation_p.A29T	p.A29T	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			3	91	-			29			EH 1.		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.85G>A	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	C	1.315	-0.600966	0.03744	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.28895	2.01;2.01;1.59	5.33	0.413	0.16401	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.263119	0.38272	N	0.001749	T	0.10165	0.0249	N	0.04880	-0.145	0.09310	N	1	B;B;B;B;B	0.14438	0.001;0.001;0.01;0.001;0.001	B;B;B;B;B	0.16289	0.015;0.005;0.015;0.008;0.005	T	0.26608	-1.0098	10	0.11182	T	0.66	.	3.8915	0.09120	0.2634:0.4212:0.0:0.3154	.	29;29;29;29;29	A8K5P4;A5PL29;A2RRF3;Q9UBC2;G3V0H2	.;.;.;EP15R_HUMAN;.	T	29	ENSP00000393313:A29T;ENSP00000248070:A29T;ENSP00000440103:A29T	ENSP00000248070:A29T	A	-	1	0	EPS15L1	16413783	0.004000	0.15560	0.020000	0.16555	0.005000	0.04900	0.056000	0.14256	0.650000	0.30769	0.655000	0.94253	GCA		0.512	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		4	123	0	0	0	0	4	123				
KIAA1683	80726	broad.mit.edu	37	19	18378184	18378184	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:18378184G>A	ENST00000600328.3	-	3	359	c.166C>T	c.(166-168)Cac>Tac	p.H56Y	KIAA1683_ENST00000392413.4_Missense_Mutation_p.H56Y|KIAA1683_ENST00000600359.3_Missense_Mutation_p.H10Y			Q9H0B3	K1683_HUMAN	KIAA1683	56						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGGCCCTCGTGCTGGGGCTGT	0.657																																						uc002nin.2		NA																	0				ovary(2)	2						c.(166-168)CAC>TAC		KIAA1683 isoform b							69.0	73.0	72.0					19																	18378184		2203	4300	6503	SO:0001583	missense	80726					mitochondrion		g.chr19:18378184G>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.166C>T	19.37:g.18378184G>A	ENSP00000470780:p.His56Tyr					KIAA1683_uc010ebn.2_Missense_Mutation_p.H56Y|KIAA1683_uc010xqe.1_Missense_Mutation_p.H10Y	p.H56Y	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN			3	382	-			56					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.166C>T	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	G	8.732	0.917000	0.17907	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000358422;ENST00000411671	T;T;T	0.03386	4.02;4.03;3.95	2.29	-1.55	0.08558	.	.	.	.	.	T	0.02083	0.0065	N	0.17082	0.46	0.09310	N	1	B;P	0.49185	0.024;0.92	B;B	0.40444	0.005;0.329	T	0.44390	-0.9331	9	0.36615	T	0.2	.	3.2187	0.06707	0.1465:0.0:0.4016:0.4519	.	56;56	E9PDE0;Q9H0B3	.;K1683_HUMAN	Y	56;56;10;55;56	ENSP00000376213:H56Y;ENSP00000352774:H56Y;ENSP00000404501:H10Y	ENSP00000351198:H55Y	H	-	1	0	KIAA1683	18239184	0.004000	0.15560	0.005000	0.12908	0.139000	0.21198	-0.447000	0.06828	-0.224000	0.09928	0.313000	0.20887	CAC		0.657	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			31	76	0	0	0	0	31	76				
ZNF99	7652	broad.mit.edu	37	19	22941426	22941426	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:22941426C>T	ENST00000596209.1	-	4	1375	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	ZNF99_ENST00000397104.3_Missense_Mutation_p.E338K	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGCCACATTCTTCACATTTG	0.373																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(1012-1014)GAA>AAA		zinc finger protein 99							51.0	52.0	52.0					19																	22941426		2026	4210	6236	SO:0001583	missense	7652							g.chr19:22941426C>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1285G>A	19.37:g.22941426C>T	ENSP00000472969:p.Glu429Lys						p.E338K	NM_001080409	NP_001073878					5	1012	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1012G>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	12.21	1.868141	0.32977	.	.	ENSG00000213973	ENST00000397104	T	0.38887	1.11	1.28	-0.287	0.12858	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43678	0.1258	L	0.48362	1.52	0.22081	N	0.999371	D	0.54207	0.965	P	0.53450	0.726	T	0.32428	-0.9907	9	0.72032	D	0.01	.	6.5009	0.22168	0.0:0.6964:0.3036:0.0	.	338	A8MXY4	ZNF99_HUMAN	K	338	ENSP00000380293:E338K	ENSP00000380293:E338K	E	-	1	0	ZNF99	22733266	0.000000	0.05858	0.010000	0.14722	0.027000	0.11550	-1.763000	0.01802	0.675000	0.31264	0.395000	0.25975	GAA		0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		13	47	0	0	0	0	13	47				
GRIK5	2901	broad.mit.edu	37	19	42546827	42546827	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:42546827C>T	ENST00000262895.3	-	11	1349	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	GRIK5_ENST00000593562.1_Missense_Mutation_p.M450I|GRIK5_ENST00000301218.4_Missense_Mutation_p.M450I	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	450					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GCTCCCGCAGCATGTCCACGC	0.677																																						uc002osj.1		NA																	0					0						c.(1348-1350)ATG>ATA		glutamate receptor KA2 precursor	L-Glutamic Acid(DB00142)						41.0	40.0	40.0					19																	42546827		2203	4300	6503	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42546827C>T		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1350G>A	19.37:g.42546827C>T	ENSP00000262895:p.Met450Ile					GRIK5_uc002osi.1_Missense_Mutation_p.M22I|GRIK5_uc010eib.1_Missense_Mutation_p.M369I	p.M450I	NM_002088	NP_002079	Q16478	GRIK5_HUMAN			11	1385	-		Prostate(69;0.059)	450			Extracellular (Potential).		Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.1350G>A	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	35	5.479983	0.96307	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.75477	-0.94;-0.94	6.17	6.17	0.99709	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.74786	0.3762	N	0.16708	0.43	0.54753	D	0.999981	P	0.44281	0.831	P	0.53722	0.733	T	0.77169	-0.2686	10	0.87932	D	0	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	450	Q16478	GRIK5_HUMAN	I	450	ENSP00000262895:M450I;ENSP00000301218:M450I	ENSP00000262895:M450I	M	-	3	0	GRIK5	47238667	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.699000	0.84547	2.941000	0.99782	0.655000	0.94253	ATG		0.677	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			14	25	0	0	0	0	14	25				
ZC3H4	23211	broad.mit.edu	37	19	47570458	47570458	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:47570458C>T	ENST00000253048.5	-	15	3104	c.3067G>A	c.(3067-3069)Gcc>Acc	p.A1023T	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1023							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CGCTGCCGGGCGTTGGGGGGC	0.706																																						uc002pga.3		NA																	0				skin(4)|ovary(2)	6						c.(3067-3069)GCC>ACC		zinc finger CCCH-type containing 4							14.0	18.0	16.0					19																	47570458		1808	4041	5849	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47570458C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.3067G>A	19.37:g.47570458C>T	ENSP00000253048:p.Ala1023Thr					ZC3H4_uc002pgb.1_RNA	p.A1023T	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	15	3105	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	1023					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.3067G>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	2.297	-0.361105	0.05103	.	.	ENSG00000130749	ENST00000253048	T	0.17213	2.29	5.23	-3.77	0.04346	.	0.954706	0.08739	N	0.900880	T	0.05227	0.0139	N	0.08118	0	0.22521	N	0.99902	B	0.26744	0.158	B	0.12837	0.008	T	0.39961	-0.9588	10	0.09084	T	0.74	.	3.5958	0.08005	0.0757:0.2775:0.2829:0.364	.	1023	Q9UPT8	ZC3H4_HUMAN	T	1023	ENSP00000253048:A1023T	ENSP00000253048:A1023T	A	-	1	0	ZC3H4	52262298	0.620000	0.27068	0.207000	0.23584	0.113000	0.19764	0.737000	0.26144	-0.715000	0.04968	-0.251000	0.11542	GCC		0.706	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			13	24	0	0	0	0	13	24				
PTPRH	5794	broad.mit.edu	37	19	55711682	55711682	+	Missense_Mutation	SNP	C	C	T	rs373526913		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:55711682C>T	ENST00000376350.3	-	7	1364	c.1342G>A	c.(1342-1344)Gga>Aga	p.G448R	PTPRH_ENST00000263434.5_Missense_Mutation_p.G270R|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	448	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TACAAGGTTCCGGGCTCAAGT	0.522																																						uc002qjq.2		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(1342-1344)GGA>AGA		protein tyrosine phosphatase, receptor type, H		C	ARG/GLY,ARG/GLY	0,4406		0,0,2203	188.0	155.0	166.0		808,1342	2.8	0.0	19		166	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTPRH	NM_001161440.1,NM_002842.3	125,125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	270/938,448/1116	55711682	1,13005	2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55711682C>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1342G>A	19.37:g.55711682C>T	ENSP00000365528:p.Gly448Arg					PTPRH_uc010esv.2_Missense_Mutation_p.G270R|PTPRH_uc002qjs.2_Missense_Mutation_p.G455R	p.G448R	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	7	1415	-		Renal(1328;0.245)	448			Extracellular (Potential).|Fibronectin type-III 5.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.1342G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645833	0.47258	0.0	1.16E-4	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.62639	0.01;0.01	3.87	2.82	0.32997	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.247260	0.21252	N	0.077622	T	0.74688	0.3749	M	0.73962	2.25	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.63047	-0.6724	10	0.87932	D	0	.	7.8175	0.29269	0.0:0.8769:0.0:0.1231	.	270;270;448	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	R	448;270	ENSP00000365528:G448R;ENSP00000263434:G270R	ENSP00000263434:G270R	G	-	1	0	PTPRH	60403494	0.031000	0.19500	0.002000	0.10522	0.003000	0.03518	1.413000	0.34725	0.920000	0.36970	0.549000	0.68633	GGA		0.522	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			27	89	0	0	0	0	27	89				
ZNF460	10794	broad.mit.edu	37	19	57803220	57803220	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:57803220G>T	ENST00000360338.3	+	3	1633	c.1311G>T	c.(1309-1311)agG>agT	p.R437S	ZNF460_ENST00000537645.1_Missense_Mutation_p.R396S	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R437S(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCTCACAAGGCACCAGTGGA	0.478																																						uc002qog.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1309-1311)AGG>AGT		zinc finger protein 460							93.0	85.0	88.0					19																	57803220		2203	4300	6503	SO:0001583	missense	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57803220G>T	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.1311G>T	19.37:g.57803220G>T	ENSP00000353491:p.Arg437Ser					ZNF460_uc010ygv.1_Missense_Mutation_p.R396S	p.R437S	NM_006635	NP_006626	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1633	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	437			C2H2-type 9.		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	c.1311G>T	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674067	0.29693	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.25749	1.78;1.78	1.68	-1.28	0.09318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18923	0.0454	L	0.49778	1.585	0.18873	N	0.999984	B	0.21905	0.062	B	0.20955	0.032	T	0.27872	-1.0061	9	0.37606	T	0.19	.	3.6629	0.08245	0.3342:0.2068:0.4589:0.0	.	437	Q14592	ZN460_HUMAN	S	396;437	ENSP00000446167:R396S;ENSP00000353491:R437S	ENSP00000353491:R437S	R	+	3	2	ZNF460	62495032	0.000000	0.05858	0.384000	0.26145	0.851000	0.48451	-2.557000	0.00924	-0.264000	0.09365	0.650000	0.86243	AGG		0.478	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		17	48	1	0	2e-07	2.16e-07	17	48				
RBKS	64080	broad.mit.edu	37	2	28081341	28081341	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:28081341C>A	ENST00000302188.3	-	2	939	c.187G>T	c.(187-189)Gct>Tct	p.A63S	RBKS_ENST00000444339.2_Missense_Mutation_p.A63S	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	63					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					CCAAGCCGAGCAGCTTGGACA	0.438																																						uc002rlo.1		NA																	0				ovary(1)|skin(1)	2						c.(187-189)GCT>TCT		ribokinase							107.0	96.0	100.0					2																	28081341		2203	4300	6503	SO:0001583	missense	64080				D-ribose metabolic process		ATP binding|ribokinase activity	g.chr2:28081341C>A	BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.187G>T	2.37:g.28081341C>A	ENSP00000306817:p.Ala63Ser					RBKS_uc010ezi.1_5'UTR|RBKS_uc010ymg.1_Missense_Mutation_p.A63S	p.A63S	NM_022128	NP_071411	Q9H477	RBSK_HUMAN			2	198	-	Acute lymphoblastic leukemia(172;0.155)		63					A9UK04|B4DV96	Missense_Mutation	SNP	ENST00000302188.3	37	c.187G>T	CCDS1762.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036217	0.75617	.	.	ENSG00000171174	ENST00000302188;ENST00000444339	T;T	0.78481	-1.18;-1.18	5.95	5.07	0.68467	Carbohydrate/purine kinase (1);	0.147390	0.64402	N	0.000010	T	0.80737	0.4680	L	0.46947	1.48	0.80722	D	1	D;P	0.53619	0.961;0.719	P;P	0.54346	0.749;0.567	T	0.81731	-0.0799	10	0.52906	T	0.07	-8.0315	15.009	0.71536	0.1424:0.8576:0.0:0.0	.	63;63	B4DV96;Q9H477	.;RBSK_HUMAN	S	63	ENSP00000306817:A63S;ENSP00000413232:A63S	ENSP00000306817:A63S	A	-	1	0	RBKS	27934845	1.000000	0.71417	0.994000	0.49952	0.491000	0.33493	5.702000	0.68332	1.515000	0.48885	-0.169000	0.13324	GCT		0.438	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1	NM_022128		18	56	1	0	5.01e-05	5.23e-05	18	56				
LTBP1	4052	broad.mit.edu	37	2	33540271	33540271	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:33540271A>G	ENST00000404816.2	+	24	4018	c.3665A>G	c.(3664-3666)gAg>gGg	p.E1222G	LTBP1_ENST00000272273.5_Missense_Mutation_p.E162G|LTBP1_ENST00000418533.2_Missense_Mutation_p.E896G|LTBP1_ENST00000407925.1_Missense_Mutation_p.E896G|LTBP1_ENST00000354476.3_Missense_Mutation_p.E1223G|LTBP1_ENST00000402934.1_Missense_Mutation_p.E843G|LTBP1_ENST00000404525.1_Missense_Mutation_p.E843G|LTBP1_ENST00000390003.4_Missense_Mutation_p.E897G			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1222	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTAAACACAGAGGGTTCTTTC	0.408																																						uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(3667-3669)GAG>GGG		latent transforming growth factor beta binding							116.0	106.0	109.0					2																	33540271		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33540271A>G		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3665A>G	2.37:g.33540271A>G	ENSP00000386043:p.Glu1222Gly					LTBP1_uc002rot.2_Missense_Mutation_p.E897G|LTBP1_uc002rou.2_Missense_Mutation_p.E896G|LTBP1_uc002rov.2_Missense_Mutation_p.E843G|LTBP1_uc010ymz.1_Missense_Mutation_p.E896G|LTBP1_uc010yna.1_Missense_Mutation_p.E843G|LTBP1_uc010ynb.1_Missense_Mutation_p.E162G	p.E1223G	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			24	3668	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1222			EGF-like 12; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.3668A>G	CCDS33177.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.82|12.82	2.054041|2.054041	0.36277|0.36277	.|.	.|.	ENSG00000049323|ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273;ENST00000422669|ENST00000415140	D;D;D;D;D;D;D;D;D|.	0.87256|.	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23|.	4.98|4.98	2.48|2.48	0.30137|0.30137	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	.|.	.|.	.|.	.|.	T|T	0.49541|0.49541	0.1563|0.1563	L|L	0.53249|0.53249	1.67|1.67	0.24627|0.24627	N|N	0.993645|0.993645	B;B;B;B;B;B;B|.	0.30686|.	0.05;0.29;0.017;0.07;0.083;0.016;0.246|.	B;B;B;B;B;B;B|.	0.39339|.	0.06;0.297;0.031;0.088;0.1;0.046;0.197|.	T|T	0.37220|0.37220	-0.9715|-0.9715	9|5	0.40728|.	T|.	0.16|.	.|.	11.6961|11.6961	0.51544|0.51544	0.7192:0.2808:0.0:0.0|0.7192:0.2808:0.0:0.0	.|.	162;1222;896;843;896;897;1223|.	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4|.	.;LTBP1_HUMAN;.;.;.;.;.|.	G|G	1222;1223;897;896;843;843;896;162;100|184	ENSP00000386043:E1222G;ENSP00000346467:E1223G;ENSP00000374653:E897G;ENSP00000393057:E896G;ENSP00000384373:E843G;ENSP00000385359:E843G;ENSP00000384091:E896G;ENSP00000272273:E162G;ENSP00000395211:E100G|.	ENSP00000272273:E162G|.	E|R	+|+	2|1	0|2	LTBP1|LTBP1	33393775|33393775	0.870000|0.870000	0.30015|0.30015	0.496000|0.496000	0.27539|0.27539	0.540000|0.540000	0.34992|0.34992	1.775000|1.775000	0.38584|0.38584	0.209000|0.209000	0.20645|0.20645	0.533000|0.533000	0.62120|0.62120	GAG|AGG		0.408	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		11	44	0	0	0	0	11	44				
DPP10	57628	broad.mit.edu	37	2	116503737	116503737	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:116503737C>T	ENST00000410059.1	+	10	1408	c.928C>T	c.(928-930)Cca>Tca	p.P310S	DPP10_ENST00000409163.1_Missense_Mutation_p.P260S|DPP10_ENST00000393147.2_Missense_Mutation_p.P314S|DPP10_ENST00000310323.8_Missense_Mutation_p.P303S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	310						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGAGCTCATGCCACCTGACAG	0.343																																						uc002tla.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(928-930)CCA>TCA		dipeptidyl peptidase 10 isoform long							111.0	103.0	106.0					2																	116503737		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116503737C>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.928C>T	2.37:g.116503737C>T	ENSP00000386565:p.Pro310Ser					DPP10_uc002tlb.1_Missense_Mutation_p.P260S|DPP10_uc002tlc.1_Missense_Mutation_p.P306S|DPP10_uc002tle.2_Missense_Mutation_p.P314S|DPP10_uc002tlf.1_Missense_Mutation_p.P303S	p.P310S	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			10	1385	+			310			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.928C>T	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303748	0.81136	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.03	5.03	0.67393	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.058294	0.64402	D	0.000001	T	0.62575	0.2439	M	0.80422	2.495	0.80722	D	1	D;D;D;D	0.67145	0.995;0.994;0.996;0.996	D;P;D;D	0.69307	0.938;0.788;0.946;0.963	T	0.67480	-0.5660	10	0.72032	D	0.01	-11.7034	17.5365	0.87833	0.0:1.0:0.0:0.0	.	303;314;306;310	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	S	310;260;314;303;260	ENSP00000386565:P310S;ENSP00000387038:P260S;ENSP00000376855:P314S;ENSP00000309066:P303S	ENSP00000309066:P303S	P	+	1	0	DPP10	116220207	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.134000	0.57990	2.621000	0.88768	0.591000	0.81541	CCA		0.343	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		3	40	0	0	0	0	3	40				
ARHGAP15	55843	broad.mit.edu	37	2	143913112	143913112	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:143913112G>A	ENST00000295095.6	+	2	220	c.53G>A	c.(52-54)cGc>cAc	p.R18H	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.R18H	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	18					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AATTCTACCCGCCAAGGCACA	0.398																																						uc002tvm.3		NA																	0				ovary(1)|skin(1)	2						c.(52-54)CGC>CAC		ARHGAP15							77.0	68.0	71.0					2																	143913112		2203	4300	6503	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143913112G>A	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.53G>A	2.37:g.143913112G>A	ENSP00000295095:p.Arg18His					ARHGAP15_uc010zbl.1_Missense_Mutation_p.R18H	p.R18H	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	2	204	+			18					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.53G>A	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890368	0.33348	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.07567	3.18	5.96	3.74	0.42951	.	0.515556	0.21547	N	0.072797	T	0.02848	0.0085	N	0.03608	-0.345	0.22412	N	0.999122	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42447	-0.9451	10	0.17832	T	0.49	.	2.9511	0.05862	0.5189:0.25:0.2311:0.0	.	18;18	B4E0R3;Q53QZ3	.;RHG15_HUMAN	H	18	ENSP00000295095:R18H	ENSP00000295095:R18H	R	+	2	0	ARHGAP15	143629582	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.445000	0.44899	1.317000	0.45149	0.655000	0.94253	CGC		0.398	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		9	23	0	0	0	0	9	23				
SLC4A10	57282	broad.mit.edu	37	2	162696359	162696359	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:162696359T>A	ENST00000446997.1	+	4	431	c.338T>A	c.(337-339)aTt>aAt	p.I113N	SLC4A10_ENST00000535165.1_Missense_Mutation_p.I113N|SLC4A10_ENST00000375514.5_Missense_Mutation_p.I124N|SLC4A10_ENST00000421911.1_Missense_Mutation_p.I113N|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Missense_Mutation_p.I113N|SLC4A10_ENST00000272716.5_Missense_Mutation_p.I113N	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	113					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GAGGAACACATTCCTCATGAC	0.438																																						uc002ubx.3		NA																	0				ovary(2)|lung(2)|pancreas(1)	5						c.(337-339)ATT>AAT		solute carrier family 4, sodium bicarbonate							140.0	140.0	140.0					2																	162696359		2117	4251	6368	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162696359T>A		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.338T>A	2.37:g.162696359T>A	ENSP00000393066:p.Ile113Asn					SLC4A10_uc010fpa.1_Missense_Mutation_p.I125N|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.I113N|SLC4A10_uc010zcs.1_Missense_Mutation_p.I124N	p.I113N	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			4	522	+			113			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.338T>A	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.824294	0.50739	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000535165;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T;T	0.78246	-1.14;-1.14;0.68;-1.14;-1.16;-1.16	5.6	5.6	0.85130	.	0.047123	0.85682	D	0.000000	T	0.79149	0.4397	L	0.39898	1.24	0.46131	D	0.998889	P;B;P;P	0.47484	0.896;0.002;0.896;0.82	P;B;P;B	0.54210	0.745;0.004;0.745;0.359	T	0.75961	-0.3133	10	0.24483	T	0.36	.	15.7845	0.78291	0.0:0.0:0.0:1.0	.	124;113;113;113	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	N	124;113;113;113;113;113;113;113	ENSP00000364664:I124N;ENSP00000395797:I113N;ENSP00000437527:I113N;ENSP00000272716:I113N;ENSP00000393066:I113N;ENSP00000404486:I113N	ENSP00000272716:I113N	I	+	2	0	SLC4A10	162404605	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.167000	0.71902	2.137000	0.66172	0.528000	0.53228	ATT		0.438	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		19	57	0	0	0	0	19	57				
OSBPL6	114880	broad.mit.edu	37	2	179197685	179197685	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:179197685A>T	ENST00000190611.4	+	8	950	c.574A>T	c.(574-576)Aga>Tga	p.R192*	OSBPL6_ENST00000357080.4_Nonsense_Mutation_p.R192*|OSBPL6_ENST00000409631.1_Nonsense_Mutation_p.R192*|OSBPL6_ENST00000392505.2_Nonsense_Mutation_p.R192*|OSBPL6_ENST00000359685.3_Nonsense_Mutation_p.R192*|OSBPL6_ENST00000315022.2_Nonsense_Mutation_p.R171*|OSBPL6_ENST00000409045.3_Nonsense_Mutation_p.R192*	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	192					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GAGATCACCAAGAGATGCTAG	0.413																																						uc002ulx.2		NA																	0				pancreas(1)	1						c.(574-576)AGA>TGA		oxysterol-binding protein-like protein 6 isoform							147.0	132.0	137.0					2																	179197685		2203	4300	6503	SO:0001587	stop_gained	114880				lipid transport		lipid binding	g.chr2:179197685A>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.574A>T	2.37:g.179197685A>T	ENSP00000190611:p.Arg192*					OSBPL6_uc002ulw.2_Nonsense_Mutation_p.R192*|OSBPL6_uc002uly.2_Nonsense_Mutation_p.R192*|OSBPL6_uc010zfe.1_Nonsense_Mutation_p.R192*|OSBPL6_uc002ulz.2_Nonsense_Mutation_p.R192*|OSBPL6_uc002uma.2_Nonsense_Mutation_p.R171*	p.R192*	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		8	952	+			192					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Nonsense_Mutation	SNP	ENST00000190611.4	37	c.574A>T	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	A	39	7.445774	0.98289	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	.	.	.	5.57	-0.285	0.12866	.	0.048468	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.561	17.4977	0.87723	0.3158:0.6842:0.0:0.0	.	.	.	.	X	192;192;192;192;192;192;171	.	ENSP00000190611:R192X	R	+	1	2	OSBPL6	178905931	0.026000	0.19158	0.782000	0.31804	0.997000	0.91878	0.530000	0.23036	0.082000	0.17018	0.533000	0.62120	AGA		0.413	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		25	71	0	0	0	0	25	71				
TTN	7273	broad.mit.edu	37	2	179473617	179473617	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:179473617A>T	ENST00000591111.1	-	224	47422	c.47198T>A	c.(47197-47199)aTc>aAc	p.I15733N	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I8309N|TTN_ENST00000359218.5_Missense_Mutation_p.I8434N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I17374N|TTN_ENST00000342175.6_Missense_Mutation_p.I8501N|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I14806N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15733	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACAAAGTTGATTGGTGGTCC	0.388																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(44416-44418)ATC>AAC		titin isoform N2-A							128.0	119.0	122.0					2																	179473617		1844	4077	5921	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179473617A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.47198T>A	2.37:g.179473617A>T	ENSP00000465570:p.Ile15733Asn					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I8501N|TTN_uc010zfi.1_Missense_Mutation_p.I8434N|TTN_uc010zfj.1_Missense_Mutation_p.I8309N	p.I14806N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		223	44641	-			15733					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.44417T>A		.	.	.	.	.	.	.	.	.	.	A	11.84	1.759760	0.31137	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.64	5.64	0.86602	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55737	0.1939	L	0.28054	0.825	0.45427	D	0.998406	P;P;P;P	0.48589	0.912;0.912;0.912;0.912	P;P;P;P	0.54629	0.757;0.757;0.757;0.671	T	0.60632	-0.7225	9	0.87932	D	0	.	15.862	0.79032	1.0:0.0:0.0:0.0	.	8309;8434;8501;15733	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	14806;8309;8501;8434;8309	ENSP00000343764:I14806N;ENSP00000434586:I8309N;ENSP00000340554:I8501N;ENSP00000352154:I8434N	ENSP00000340554:I8501N	I	-	2	0	TTN	179181862	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.463000	0.80869	2.145000	0.66743	0.460000	0.39030	ATC		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		31	116	0	0	0	0	31	116				
MARS2	92935	broad.mit.edu	37	2	198571571	198571571	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:198571571G>A	ENST00000282276.6	+	1	1485	c.1442G>A	c.(1441-1443)cGg>cAg	p.R481Q	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	481					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	AGCTGTGTCCGGCAAACTAAT	0.542																																						uc002uuq.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1441-1443)CGG>CAG		methionine-tRNA synthetase 2 precursor	L-Methionine(DB00134)						104.0	106.0	106.0					2																	198571571		2203	4300	6503	SO:0001583	missense	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198571571G>A	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.1442G>A	2.37:g.198571571G>A	ENSP00000282276:p.Arg481Gln					uc002uup.2_Intron	p.R481Q	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN			1	1485	+			481					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	c.1442G>A	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917561	0.73098	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.46451	0.87	5.07	5.07	0.68467	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.46756	0.1409	M	0.80616	2.505	0.50313	D	0.999865	P	0.43542	0.81	B	0.38803	0.282	T	0.52616	-0.8552	10	0.36615	T	0.2	-21.0481	15.9821	0.80116	0.0:0.0:1.0:0.0	.	481	Q96GW9	SYMM_HUMAN	Q	481;408	ENSP00000282276:R481Q	ENSP00000282276:R481Q	R	+	2	0	MARS2	198279816	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.484000	0.81180	2.634000	0.89283	0.655000	0.94253	CGG		0.542	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		32	104	0	0	0	0	32	104				
ERBB4	2066	broad.mit.edu	37	2	212295727	212295727	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:212295727A>C	ENST00000342788.4	-	21	2896	c.2586T>G	c.(2584-2586)ttT>ttG	p.F862L	ERBB4_ENST00000402597.1_Missense_Mutation_p.F852L|ERBB4_ENST00000436443.1_Missense_Mutation_p.F862L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	862	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TGGCTAGCCCAAAATCTGTGA	0.418										TSP Lung(8;0.080)																												uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(2584-2586)TTT>TTG		v-erb-a erythroblastic leukemia viral oncogene							140.0	134.0	136.0					2																	212295727		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212295727A>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2586T>G	2.37:g.212295727A>C	ENSP00000342235:p.Phe862Leu	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.F862L|ERBB4_uc010zji.1_Missense_Mutation_p.F852L|ERBB4_uc010zjj.1_Missense_Mutation_p.F852L	p.F862L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	21	2684	-		Renal(323;0.06)|Lung NSC(271;0.197)	862			Protein kinase.|Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2586T>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057964	0.76074	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.81247	-1.47;-1.47;-1.47	5.19	4.03	0.46877	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90273	0.6958	M	0.90198	3.095	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.79108	0.986;0.992;0.986;0.992	D	0.90851	0.4731	10	0.87932	D	0	.	11.0484	0.47872	0.9263:0.0:0.0737:0.0	.	852;852;862;862	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	L	862;862;852	ENSP00000342235:F862L;ENSP00000403204:F862L;ENSP00000385565:F852L	ENSP00000342235:F862L	F	-	3	2	ERBB4	212003972	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	3.697000	0.54764	0.912000	0.36772	0.460000	0.39030	TTT		0.418	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		3	104	0	0	0	0	3	104				
ABCB6	10058	broad.mit.edu	37	2	220080750	220080750	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:220080750G>A	ENST00000265316.3	-	5	1439	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	ABCB6_ENST00000439002.2_Missense_Mutation_p.R329W	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	375	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.		R -> Q (probable disease-associated mutation found in patients with familial pseudohyperkalemia). {ECO:0000269|PubMed:23180570}.|R -> W (probable disease-associated mutation found in patients with familial pseudohyperkalemia). {ECO:0000269|PubMed:23180570}.		brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATGTGCCCCGATCCGCGATC	0.687																																						uc002vkc.1		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1123-1125)CGG>TGG		ATP-binding cassette, sub-family B, member 6							19.0	23.0	21.0					2																	220080750		2201	4300	6501	SO:0001583	missense	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220080750G>A	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1123C>T	2.37:g.220080750G>A	ENSP00000265316:p.Arg375Trp					ABCB6_uc010fwe.1_Missense_Mutation_p.R329W|ABCB6_uc010zku.1_Intron	p.R375W	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	1400	-		Renal(207;0.0474)	375			ABC transmembrane type-1.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	c.1123C>T	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255660	0.80135	.	.	ENSG00000115657	ENST00000265316;ENST00000439002	D;D	0.94613	-3.47;-2.61	4.92	4.92	0.64577	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98277	0.9429	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98510	1.0618	10	0.87932	D	0	-34.0639	12.4863	0.55874	0.0:0.0:0.715:0.285	.	329;375	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	W	375;329	ENSP00000265316:R375W;ENSP00000394333:R329W	ENSP00000265316:R375W	R	-	1	2	ABCB6	219788994	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.495000	0.53280	2.711000	0.92665	0.655000	0.94253	CGG		0.687	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		4	16	0	0	0	0	4	16				
KCNE4	23704	broad.mit.edu	37	2	223917672	223917672	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:223917672G>T	ENST00000281830.3	+	2	608	c.277G>T	c.(277-279)Gtc>Ttc	p.V93F	KCNE4_ENST00000604125.1_Missense_Mutation_p.V42F|KCNE4_ENST00000488477.2_Intron			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	93						apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	voltage-gated potassium channel activity (GO:0005249)			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CATTCTGGTTGTCATGTCCTT	0.597																																						uc002vnl.3		NA																	0				ovary(1)	1						c.(124-126)GTC>TTC		potassium voltage-gated channel, Isk-related							99.0	79.0	86.0					2																	223917672		2203	4300	6503	SO:0001583	missense	23704					integral to membrane	voltage-gated potassium channel activity	g.chr2:223917672G>T	AY065987	CCDS2456.1, CCDS2456.2	2q36.1	2008-02-05			ENSG00000152049	ENSG00000152049		"""Potassium channels"""	6244	protein-coding gene	gene with protein product		607775				10219239, 12670483	Standard	NM_080671		Approved	MiRP3	uc002vnl.5	Q8WWG9	OTTHUMG00000133161	ENST00000281830.3:c.277G>T	2.37:g.223917672G>T	ENSP00000281830:p.Val93Phe						p.V42F	NM_080671	NP_542402	Q8WWG9	KCNE4_HUMAN		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	278	+		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)	42			Helical; (Potential).		B7Z275|Q53SM4|Q96CC4	Missense_Mutation	SNP	ENST00000281830.3	37	c.124G>T		.	.	.	.	.	.	.	.	.	.	G	33	5.206903	0.95033	.	.	ENSG00000152049	ENST00000281830	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.83510	0.5270	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84265	0.0485	9	0.87932	D	0	0.0912	20.2985	0.98592	0.0:0.0:1.0:0.0	.	42	Q8WWG9	KCNE4_HUMAN	F	42	.	ENSP00000281830:V42F	V	+	1	0	KCNE4	223625916	1.000000	0.71417	0.968000	0.41197	0.859000	0.49053	9.434000	0.97515	2.793000	0.96121	0.655000	0.94253	GTC		0.597	KCNE4-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000330997.2	NM_080671		24	82	1	0	2.98e-07	3.22e-07	24	82				
SERPINE2	5270	broad.mit.edu	37	2	224866605	224866605	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:224866605G>A	ENST00000258405.4	-	2	255	c.13C>T	c.(13-15)Ctc>Ttc	p.L5F	SERPINE2_ENST00000409840.3_Missense_Mutation_p.L5F|SERPINE2_ENST00000447280.2_Missense_Mutation_p.L17F|SERPINE2_ENST00000409304.1_Missense_Mutation_p.L5F	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	5					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AAGAGGGGGAGATGCCAGTTC	0.443																																						uc002vnu.2		NA																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(13-15)CTC>TTC		plasminogen activator inhibitor type 1, member 2							95.0	106.0	102.0					2																	224866605		2203	4300	6503	SO:0001583	missense	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224866605G>A	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.13C>T	2.37:g.224866605G>A	ENSP00000258405:p.Leu5Phe					SERPINE2_uc002vnt.2_Missense_Mutation_p.L5F|SERPINE2_uc010zlr.1_Missense_Mutation_p.L17F|SERPINE2_uc002vnv.2_Missense_Mutation_p.L5F	p.L5F	NM_006216	NP_006207	P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	2	256	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	5					B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	37	c.13C>T	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.882805	0.00532	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738;ENST00000454956;ENST00000423446	D;T;D;D;D;D	0.86562	-2.09;-0.93;-2.09;-2.14;-1.75;-1.74	5.03	1.17	0.20885	Serpin domain (1);	0.640765	0.16622	N	0.206424	T	0.69061	0.3069	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.52396	-0.8581	10	0.11794	T	0.64	.	8.1362	0.31056	0.757:0.0:0.243:0.0	.	17;5	B4DIF2;P07093	.;GDN_HUMAN	F	5;5;5;17;5;5;5	ENSP00000386412:L5F;ENSP00000258405:L5F;ENSP00000386969:L5F;ENSP00000415786:L17F;ENSP00000408452:L5F;ENSP00000399655:L5F	ENSP00000258405:L5F	L	-	1	0	SERPINE2	224574849	0.989000	0.36119	0.051000	0.19133	0.037000	0.13140	1.106000	0.31098	0.021000	0.15133	0.561000	0.74099	CTC		0.443	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		33	66	0	0	0	0	33	66				
B3GNT7	93010	broad.mit.edu	37	2	232262638	232262638	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:232262638G>T	ENST00000287590.5	+	2	469	c.208G>T	c.(208-210)Gcg>Tcg	p.A70S	AC017104.6_ENST00000415129.1_RNA|B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	70					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		AGATGTGGCTGCGCCCACGCC	0.617																																						uc002vrs.2		NA																	0					0						c.(208-210)GCG>TCG		UDP-GlcNAc:betaGal							38.0	44.0	42.0					2																	232262638		1937	4131	6068	SO:0001583	missense	93010				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr2:232262638G>T	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.208G>T	2.37:g.232262638G>T	ENSP00000287590:p.Ala70Ser						p.A70S	NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	2	388	+		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	70			Lumenal (Potential).		B3KWY4|B7WNP0	Missense_Mutation	SNP	ENST00000287590.5	37	c.208G>T	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.785740	0.00628	.	.	ENSG00000156966	ENST00000287590	T	0.33865	1.39	5.17	-7.55	0.01327	.	0.502328	0.18513	U	0.139012	T	0.13114	0.0318	N	0.24115	0.695	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.33675	-0.9859	10	0.09084	T	0.74	.	3.683	0.08317	0.1066:0.1081:0.5316:0.2537	.	70	Q8NFL0	B3GN7_HUMAN	S	70	ENSP00000287590:A70S	ENSP00000287590:A70S	A	+	1	0	B3GNT7	231970882	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.428000	0.06991	-0.854000	0.04131	-1.808000	0.00615	GCG		0.617	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236		10	35	1	0	2.18e-05	2.29e-05	10	35				
SIRPB2	284759	broad.mit.edu	37	20	1456848	1456848	+	Silent	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr20:1456848G>T	ENST00000359801.3	-	5	1029	c.993C>A	c.(991-993)gcC>gcA	p.A331A	SIRPB2_ENST00000608747.1_5'Flank|SIRPB2_ENST00000444444.2_Silent_p.A233A	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	365	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGGTGTTCATGGCTCCTGCTG	0.592																																						uc002wfg.2		NA																	0					0						c.(991-993)GCC>GCA		signal-regulatory protein beta 2 isoform 1							148.0	127.0	133.0					20																	1456848		1568	3582	5150	SO:0001819	synonymous_variant	284759					integral to membrane		g.chr20:1456848G>T	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.993C>A	20.37:g.1456848G>T						SIRPB2_uc002wfh.3_Silent_p.A233A	p.A331A	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN			5	1221	-			331			Cytoplasmic (Potential).		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	ENST00000359801.3	37	c.993C>A	CCDS42849.1																																																																																				0.592	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		36	109	1	0	3.21e-22	3.69e-22	36	109				
SNAP25	6616	broad.mit.edu	37	20	10256162	10256162	+	Missense_Mutation	SNP	G	G	A	rs374115269		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr20:10256162G>A	ENST00000254976.2	+	2	234	c.23G>A	c.(22-24)cGc>cAc	p.R8H	SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000304886.2_Missense_Mutation_p.R8H	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	8	Interaction with CENPF. {ECO:0000250}.				energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)			endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GCAGACATGCGCAATGAGCTG	0.602																																						uc002wnq.1		NA																	0				skin(2)	2						c.(22-24)CGC>CAC		synaptosomal-associated protein 25 isoform	Botulinum Toxin Type A(DB00083)	G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	88.0	76.0	80.0		23,23	6.1	1.0	20		80	0,8600		0,0,4300	no	missense,missense	SNAP25	NM_003081.3,NM_130811.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	8/207,8/207	10256162	1,13005	2203	4300	6503	SO:0001583	missense	6616				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		g.chr20:10256162G>A		CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.23G>A	20.37:g.10256162G>A	ENSP00000254976:p.Arg8His					SNAP25_uc002wnr.1_Missense_Mutation_p.R8H|SNAP25_uc002wns.1_5'UTR|SNAP25_uc010gca.1_Missense_Mutation_p.R8H|SNAP25_uc010gcb.1_5'UTR|SNAP25_uc010gcc.1_5'UTR	p.R8H	NM_130811	NP_570824	P60880	SNP25_HUMAN			2	235	+			8			Interaction with CENPF (By similarity).		B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Missense_Mutation	SNP	ENST00000254976.2	37	c.23G>A	CCDS13110.1	.	.	.	.	.	.	.	.	.	.	G	36	5.637842	0.96693	2.27E-4	0.0	ENSG00000132639	ENST00000254976;ENST00000304886;ENST00000430336	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.63843	1.955	0.80722	D	1	D;D	0.71674	0.998;0.996	P;P	0.62014	0.897;0.732	T	0.74922	-0.3499	9	0.51188	T	0.08	-10.6928	20.6647	0.99678	0.0:0.0:1.0:0.0	.	8;8	P60880-2;P60880	.;SNP25_HUMAN	H	8	.	ENSP00000254976:R8H	R	+	2	0	SNAP25	10204162	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.112000	0.94314	2.890000	0.99128	0.655000	0.94253	CGC		0.602	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077976.3	NM_130811		7	25	0	0	0	0	7	25				
DNMT3B	1789	broad.mit.edu	37	20	31395666	31395666	+	Missense_Mutation	SNP	G	G	A	rs121908946		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr20:31395666G>A	ENST00000328111.2	+	23	2840	c.2519G>A	c.(2518-2520)cGa>cAa	p.R840Q	DNMT3B_ENST00000344505.4_Silent_p.P780P|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R681Q|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R820Q|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R757Q|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R832Q|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R715Q	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	840	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> Q (in ICF1; dbSNP:rs121908946). {ECO:0000269|PubMed:15580563}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTGTCATCCGACACCTCTTC	0.602																																						uc002wyc.2		NA																	0				lung(3)|ovary(2)	5	GRCh37	CM021983	DNMT3B	M	rs121908946	c.(2518-2520)CGA>CAA		DNA cytosine-5 methyltransferase 3 beta isoform							140.0	127.0	131.0					20																	31395666		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31395666G>A		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.2519G>A	20.37:g.31395666G>A	ENSP00000328547:p.Arg840Gln					DNMT3B_uc002wyd.2_Missense_Mutation_p.R820Q|DNMT3B_uc002wye.2_Missense_Mutation_p.R757Q|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.R715Q|DNMT3B_uc010zua.1_Missense_Mutation_p.R681Q|DNMT3B_uc002wyf.2_Missense_Mutation_p.R832Q|DNMT3B_uc002wyg.2_Missense_Mutation_p.R476Q|DNMT3B_uc010geg.2_Silent_p.P99P|DNMT3B_uc010geh.2_RNA	p.R840Q	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN			23	2840	+			840		R -> Q (in ICF).			A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.2519G>A	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	34	5.395559	0.96009	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000201963	D;D;D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34;-4.34;-4.34	5.35	5.35	0.76521	.	0.064013	0.64402	D	0.000007	D	0.97980	0.9335	M	0.71581	2.175	0.80722	A	1	P;P;B;D;P;D;D	0.89917	0.553;0.78;0.326;1.0;0.947;1.0;1.0	B;B;B;D;B;D;D	0.79784	0.058;0.097;0.022;0.993;0.197;0.993;0.934	D	0.98368	1.0552	9	0.72032	D	0.01	-9.8178	13.8938	0.63757	0.0752:0.0:0.9248:0.0	.	681;715;476;832;757;820;840	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	Q	840;820;757;715;681;832	ENSP00000328547:R840Q;ENSP00000313397:R820Q;ENSP00000337764:R757Q;ENSP00000403169:R715Q;ENSP00000412305:R681Q;ENSP00000201963:R832Q	ENSP00000201963:R832Q	R	+	2	0	DNMT3B	30859327	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.573000	0.74009	2.941000	0.99782	0.655000	0.94253	CGA		0.602	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		35	106	0	0	0	0	35	106				
KRTAP10-5	386680	broad.mit.edu	37	21	46000227	46000228	+	Missense_Mutation	DNP	CC	CC	TT	rs368543649		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr21:46000227_46000228CC>TT	ENST00000400372.1	-	1	253_254	c.228_229GG>AA	c.(226-231)ccGGct>ccAAct	p.A77T	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	77	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						gcgcagcaagccggctggcagc	0.678																																						uc002zfl.1		NA																	0					0						c.(226-231)CCGGCT>CCAACT		keratin associated protein 10-5																																				SO:0001583	missense	386680					keratin filament		g.chr21:46000227_46000228CC>TT	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.228_229delinsTT	21.37:g.46000227_46000228delinsTT	ENSP00000383223:p.Ala77Thr					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.A77T	NM_198694	NP_941967	P60370	KR105_HUMAN			1	254_255	-			77			3.|22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	DNP	ENST00000400372.1	37	c.228_229GG>AA	CCDS42958.1																																																																																				0.678	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			4	72	0	0	0	0	4	72				
RSPH14	27156	broad.mit.edu	37	22	23401824	23401824	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr22:23401824G>A	ENST00000216036.4	-	7	1059	c.863C>T	c.(862-864)gCg>gTg	p.A288V		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		288										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		ATTCAGGCGCGCTATGGTCAT	0.657																																						uc002zwt.2		NA																	0				ovary(1)	1						c.(862-864)GCG>GTG		rhabdoid tumor deletion region protein 1							85.0	82.0	83.0					22																	23401824		2203	4300	6503	SO:0001583	missense	27156						binding	g.chr22:23401824G>A																												ENST00000216036.4:c.863C>T	22.37:g.23401824G>A	ENSP00000216036:p.Ala288Val						p.A288V	NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	7	1021	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		288						Missense_Mutation	SNP	ENST00000216036.4	37	c.863C>T	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	G	0.232	-1.020085	0.02078	.	.	ENSG00000100218	ENST00000216036	T	0.09723	2.95	5.31	3.18	0.36537	Armadillo-like helical (1);Armadillo-type fold (1);	3.417850	0.00397	N	0.000042	T	0.06371	0.0164	N	0.16833	0.445	0.80722	D	1	B	0.24882	0.113	B	0.15484	0.013	T	0.50056	-0.8872	10	0.02654	T	1	-13.0764	4.5673	0.12193	0.6123:0.0:0.3877:0.0	.	288	Q9UHP6	RTDR1_HUMAN	V	288	ENSP00000216036:A288V	ENSP00000216036:A288V	A	-	2	0	RTDR1	21731824	0.001000	0.12720	0.141000	0.22245	0.038000	0.13279	0.441000	0.21611	0.539000	0.28788	-0.302000	0.09304	GCG		0.657	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			16	119	0	0	0	0	16	119				
LIMK2	3985	broad.mit.edu	37	22	31655979	31655979	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr22:31655979C>T	ENST00000331728.4	+	5	581	c.467C>T	c.(466-468)cCg>cTg	p.P156L	LIMK2_ENST00000340552.4_Missense_Mutation_p.P135L|LIMK2_ENST00000333611.4_Missense_Mutation_p.P135L|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_Missense_Mutation_p.P78L	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	156	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						ATCTCCATGCCGGCCACCACT	0.557																																						uc003akh.2		NA																	0				ovary(2)	2						c.(466-468)CCG>CTG		LIM domain kinase 2 isoform 2a							67.0	59.0	62.0					22																	31655979		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31655979C>T	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.467C>T	22.37:g.31655979C>T	ENSP00000332687:p.Pro156Leu					LIMK2_uc003akg.2_Missense_Mutation_p.P73L|LIMK2_uc003aki.2_Intron|LIMK2_uc003akj.2_Missense_Mutation_p.P135L|LIMK2_uc003akk.2_Missense_Mutation_p.P135L|LIMK2_uc011aln.1_Missense_Mutation_p.P73L	p.P156L	NM_005569	NP_005560	P53671	LIMK2_HUMAN			5	612	+			156			PDZ.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.467C>T	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924293	0.92319	.	.	ENSG00000182541	ENST00000406516;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.75	5.75	0.90469	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.47507	0.1449	L	0.48877	1.53	0.80722	D	1	P;P;P;D	0.89917	0.889;0.953;0.909;1.0	P;P;P;D	0.97110	0.608;0.785;0.728;1.0	T	0.37911	-0.9685	10	0.87932	D	0	-7.4797	18.9302	0.92561	0.0:1.0:0.0:0.0	.	188;135;156;78	F5GY29;Q7L3H5;P53671;B5MC51	.;.;LIMK2_HUMAN;.	L	78;156;188;135;135	ENSP00000384602:P78L;ENSP00000332687:P156L;ENSP00000330470:P135L;ENSP00000339916:P135L	ENSP00000332687:P156L	P	+	2	0	LIMK2	29985979	1.000000	0.71417	0.979000	0.43373	0.767000	0.43475	7.487000	0.81328	2.714000	0.92807	0.561000	0.74099	CCG		0.557	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		4	77	0	0	0	0	4	77				
EP300	2033	broad.mit.edu	37	22	41566460	41566460	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr22:41566460A>G	ENST00000263253.7	+	27	5556	c.4337A>G	c.(4336-4338)tAt>tGt	p.Y1446C	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1446	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGAGATGATTATATCTTCCAT	0.408			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NA		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(4336-4338)TAT>TGT		E1A binding protein p300							147.0	130.0	135.0					22																	41566460		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41566460A>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4337A>G	22.37:g.41566460A>G	ENSP00000263253:p.Tyr1446Cys						p.Y1446C	NM_001429	NP_001420	Q09472	EP300_HUMAN			27	4732	+			1446					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4337A>G	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.845471	0.71603	.	.	ENSG00000100393	ENST00000263253	D	0.99304	-5.72	5.31	5.31	0.75309	.	0.000000	0.44285	D	0.000474	D	0.99609	0.9858	H	0.96489	3.83	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	D	0.97688	1.0177	10	0.87932	D	0	-6.8798	15.2851	0.73822	1.0:0.0:0.0:0.0	.	1446	Q09472	EP300_HUMAN	C	1446	ENSP00000263253:Y1446C	ENSP00000263253:Y1446C	Y	+	2	0	EP300	39896406	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.237000	0.95368	2.004000	0.58718	0.533000	0.62120	TAT		0.408	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		52	72	0	0	0	0	52	72				
TRIM71	131405	broad.mit.edu	37	3	32931915	32931915	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:32931915A>C	ENST00000383763.5	+	4	1282	c.1219A>C	c.(1219-1221)Aac>Cac	p.N407H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	407					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGCGGCAAAACCTCAACAA	0.567																																						uc003cff.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1219-1221)AAC>CAC		tripartite motif-containing 71							72.0	79.0	77.0					3																	32931915		2067	4197	6264	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32931915A>C		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1219A>C	3.37:g.32931915A>C	ENSP00000373272:p.Asn407His						p.N407H	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			4	1282	+			407			Potential.			Missense_Mutation	SNP	ENST00000383763.5	37	c.1219A>C	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.071189	0.36566	.	.	ENSG00000206557	ENST00000383763	D	0.83075	-1.68	5.65	3.23	0.37069	.	0.397697	0.32608	N	0.005867	T	0.67859	0.2938	N	0.19112	0.55	0.27090	N	0.962882	B	0.02656	0.0	B	0.01281	0.0	T	0.55774	-0.8088	10	0.37606	T	0.19	-21.7779	6.6471	0.22941	0.5912:0.331:0.0779:0.0	.	407	Q2Q1W2	LIN41_HUMAN	H	407	ENSP00000373272:N407H	ENSP00000373272:N407H	N	+	1	0	TRIM71	32906919	1.000000	0.71417	0.429000	0.26710	0.985000	0.73830	4.457000	0.60088	0.407000	0.25591	0.528000	0.53228	AAC		0.567	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		27	83	0	0	0	0	27	83				
SUSD5	26032	broad.mit.edu	37	3	33255548	33255548	+	Silent	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:33255548C>T	ENST00000309558.3	-	2	579	c.162G>A	c.(160-162)ctG>ctA	p.L54L		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	54	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GAGCAGCCTCCAGTTGTAGGC	0.547																																						uc003cfo.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(160-162)CTG>CTA		sushi domain containing 5 precursor							43.0	46.0	45.0					3																	33255548		1980	4146	6126	SO:0001819	synonymous_variant	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33255548C>T	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.162G>A	3.37:g.33255548C>T							p.L54L	NM_015551	NP_056366	O60279	SUSD5_HUMAN			2	580	-			54			Extracellular (Potential).|Link.			Silent	SNP	ENST00000309558.3	37	c.162G>A	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	C	8.954	0.968869	0.18659	.	.	ENSG00000173705	ENST00000412539	.	.	.	5.03	2.0	0.26442	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.9401	5.8929	0.18923	0.442:0.4663:0.0:0.0917	.	.	.	.	X	53	.	.	W	-	2	0	SUSD5	33230552	0.998000	0.40836	0.877000	0.34402	0.858000	0.48976	0.787000	0.26858	0.492000	0.27815	0.650000	0.86243	TGG		0.547	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		5	28	0	0	0	0	5	28				
SETD2	29072	broad.mit.edu	37	3	47163558	47163558	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:47163558G>A	ENST00000409792.3	-	3	2610	c.2568C>T	c.(2566-2568)atC>atT	p.I856I		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	856					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TAGTGCTACCGATGCTCTGCT	0.358			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2		NA		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		0				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(2566-2568)ATC>ATT		SET domain containing 2							59.0	62.0	61.0					3																	47163558		2203	4299	6502	SO:0001819	synonymous_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47163558G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2568C>T	3.37:g.47163558G>A						SETD2_uc003cqv.2_Silent_p.I845I	p.I856I	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	2621	-		Acute lymphoblastic leukemia(5;0.0169)	856					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Silent	SNP	ENST00000409792.3	37	c.2568C>T	CCDS2749.2																																																																																				0.358	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		13	42	0	0	0	0	13	42				
ATRIP	84126	broad.mit.edu	37	3	48501802	48501802	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:48501802C>T	ENST00000320211.3	+	8	1462	c.1349C>T	c.(1348-1350)cCg>cTg	p.P450L	ATRIP_ENST00000357105.6_Missense_Mutation_p.P323L|ATRIP_ENST00000346691.4_Missense_Mutation_p.P450L|ATRIP_ENST00000412052.1_Missense_Mutation_p.P357L	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	450					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGGACTCACCGACACATTCC	0.562								Other conserved DNA damage response genes																														uc003ctf.1		NA																	0				ovary(1)	1						c.(1348-1350)CCG>CTG	Other_conserved_DNA_damage_response_genes	ATR interacting protein isoform 1							87.0	88.0	88.0					3																	48501802		2203	4300	6503	SO:0001583	missense	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48501802C>T	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.1349C>T	3.37:g.48501802C>T	ENSP00000323099:p.Pro450Leu					ATRIP_uc011bbj.1_Missense_Mutation_p.P323L|ATRIP_uc003ctg.1_Missense_Mutation_p.P450L|TREX1_uc010hjy.2_5'UTR	p.P450L	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	8	1381	+			450					A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	ENST00000320211.3	37	c.1349C>T	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798796	0.31777	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.42900	1.54;1.53;0.96;1.55	5.65	5.65	0.86999	.	0.335190	0.32918	N	0.005489	T	0.37517	0.1006	L	0.51422	1.61	0.09310	N	0.999998	P;P	0.49253	0.921;0.921	B;B	0.37144	0.242;0.242	T	0.43097	-0.9412	9	.	.	.	-12.2297	17.5856	0.87980	0.0:1.0:0.0:0.0	.	450;450	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	L	450;450;323;357	ENSP00000323099:P450L;ENSP00000302338:P450L;ENSP00000349620:P323L;ENSP00000400930:P357L	.	P	+	2	0	ATRIP	48476806	0.102000	0.21896	0.042000	0.18584	0.716000	0.41182	4.145000	0.58065	2.824000	0.97209	0.655000	0.94253	CCG		0.562	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		15	59	0	0	0	0	15	59				
OR5H6	79295	broad.mit.edu	37	3	97983874	97983874	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:97983874G>A	ENST00000383696.2	+	1	787	c.746G>A	c.(745-747)gGg>gAg	p.G249E	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCTATCAAAGGGATACGAAAA	0.383																																						uc003dsi.1		NA																	0		p.G249G(1)		skin(2)|large_intestine(1)	3						c.(745-747)GGG>GAG		olfactory receptor, family 5, subfamily H,							50.0	50.0	50.0					3																	97983874		2203	4299	6502	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983874G>A	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.746G>A	3.37:g.97983874G>A	ENSP00000373196:p.Gly249Glu						p.G249E	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			1	746	+			249			Cytoplasmic (Potential).		Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.746G>A	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	14.37	2.513975	0.44763	.	.	ENSG00000230301	ENST00000383696	T	0.00287	8.29	2.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.646914	0.13627	N	0.374006	T	0.00724	0.0024	M	0.91038	3.17	0.20821	N	0.999849	D	0.57257	0.979	P	0.62649	0.905	T	0.31530	-0.9940	10	0.87932	D	0	.	10.0598	0.42268	0.0:0.0:1.0:0.0	.	249	Q8NGV6	OR5H6_HUMAN	E	249	ENSP00000373196:G249E	ENSP00000373196:G249E	G	+	2	0	OR5H6	99466564	0.322000	0.24634	0.050000	0.19076	0.022000	0.10575	2.728000	0.47319	1.220000	0.43490	0.194000	0.17425	GGG		0.383	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			7	39	0	0	0	0	7	39				
OR5H2	79310	broad.mit.edu	37	3	98001947	98001947	+	Silent	SNP	C	C	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:98001947C>G	ENST00000355273.2	+	1	216	c.216C>G	c.(214-216)gcC>gcG	p.A72A	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GGAGTTTAGCCTTTGTTGATG	0.393																																						uc003dsj.1		NA																	0				ovary(3)	3						c.(214-216)GCC>GCG		olfactory receptor, family 5, subfamily H,							267.0	252.0	257.0					3																	98001947		2203	4300	6503	SO:0001819	synonymous_variant	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98001947C>G		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.216C>G	3.37:g.98001947C>G							p.A72A	NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN			1	216	+			72			Helical; Name=2; (Potential).		Q6IF87	Silent	SNP	ENST00000355273.2	37	c.216C>G	CCDS33801.1																																																																																				0.393	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			50	210	0	0	0	0	50	210				
PIK3CA	5290	broad.mit.edu	37	3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:178916876G>A	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	88	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> Q (in MCAP; also found in a glioblastoma multiforme sample; may disrupt the interaction between the PI3K- ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). {ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R88Q(53)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	R88Q(SKUT1_SOFT_TISSUE)|R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SNGM_ENDOMETRIUM)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		53	Substitution - Missense(53)	p.R88Q(26)	endometrium(27)|large_intestine(13)|central_nervous_system(8)|cervix(3)|soft_tissue(1)|breast(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(262-264)CGA>CAA		phosphoinositide-3-kinase, catalytic, alpha							107.0	102.0	104.0					3																	178916876		1821	4078	5899	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916876G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.263G>A	3.37:g.178916876G>A	ENSP00000263967:p.Arg88Gln	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R88Q	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	420	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		88		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.263G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971870	0.92919	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.80033	-1.33;-1.33	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.88404	0.3017	9	.	.	.	-14.8194	19.2635	0.93977	0.0:0.0:1.0:0.0	.	88	P42336	PK3CA_HUMAN	Q	88	ENSP00000263967:R88Q;ENSP00000417479:R88Q	.	R	+	2	0	PIK3CA	180399570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	CGA		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			16	62	0	0	0	0	16	62				
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CATGAAACAAATGAATGATGC	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		22	Substitution - Missense(22)	p.M1043I(31)|p.M1043V(15)|p.M1043T(3)	endometrium(9)|breast(6)|upper_aerodigestive_tract(3)|large_intestine(1)|central_nervous_system(1)|lung(1)|ovary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(3127-3129)ATG>GTG		phosphoinositide-3-kinase, catalytic, alpha							97.0	87.0	91.0					3																	178952072		1905	4126	6031	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952072A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3127A>G	3.37:g.178952072A>G	ENSP00000263967:p.Met1043Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1043V	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3284	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3127A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199517	0.38806	.	.	ENSG00000121879	ENST00000263967	T	0.79653	-1.29	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	N	0.02830	-0.485	0.80722	D	1	B	0.22146	0.065	B	0.19666	0.026	T	0.64080	-0.6491	10	0.72032	D	0.01	-20.5202	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1043	P42336	PK3CA_HUMAN	V	1043	ENSP00000263967:M1043V	ENSP00000263967:M1043V	M	+	1	0	PIK3CA	180434766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	ATG		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			14	42	0	0	0	0	14	42				
VPS8	23355	broad.mit.edu	37	3	184714191	184714191	+	Silent	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:184714191G>T	ENST00000437079.3	+	44	3909	c.3738G>T	c.(3736-3738)tcG>tcT	p.S1246S	VPS8_ENST00000446204.2_Silent_p.S1154S|VPS8_ENST00000287546.4_Silent_p.S1246S|VPS8_ENST00000436792.2_Silent_p.S1244S	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1246							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGAGAGCTTCGGTCACCAGAG	0.413																																						uc003fpb.1		NA																	0				ovary(1)	1						c.(3730-3732)TCG>TCT		vacuolar protein sorting 8 homolog isoform b							70.0	69.0	69.0					3																	184714191		1883	4106	5989	SO:0001819	synonymous_variant	23355						zinc ion binding	g.chr3:184714191G>T	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3738G>T	3.37:g.184714191G>T						VPS8_uc010hyd.1_Silent_p.S1154S|VPS8_uc010hye.1_Silent_p.S673S	p.S1244S	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		43	3903	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		1246					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Silent	SNP	ENST00000437079.3	37	c.3732G>T	CCDS46971.1																																																																																				0.413	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		21	32	1	0	1.96e-10	2.16e-10	21	32				
LPP	4026	broad.mit.edu	37	3	188242516	188242516	+	Silent	SNP	T	T	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:188242516T>C	ENST00000312675.4	+	5	616	c.370T>C	c.(370-372)Ttg>Ctg	p.L124L	LPP_ENST00000543006.1_Silent_p.L124L|LPP_ENST00000448637.1_Silent_p.L124L	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	124	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GATTGACTCCTTGACCAGCAT	0.547			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	uc003frs.1		NA		Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	HMGA2|MLL|C12orf9		lipoma|leukemia	HMGA2/LPP(161)	0				soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165						c.(370-372)TTG>CTG		LIM domain containing preferred translocation							136.0	128.0	131.0					3																	188242516		2203	4300	6503	SO:0001819	synonymous_variant	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188242516T>C	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.370T>C	3.37:g.188242516T>C						LPP_uc011bsg.1_Silent_p.L124L|LPP_uc011bsi.1_Silent_p.L124L|LPP_uc003frt.2_Silent_p.L124L	p.L124L	NM_005578	NP_005569	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	5	616	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	124			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	Silent	SNP	ENST00000312675.4	37	c.370T>C	CCDS3291.1																																																																																				0.547	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		42	100	0	0	0	0	42	100				
CPN2	1370	broad.mit.edu	37	3	194061983	194061983	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:194061983G>A	ENST00000323830.3	-	2	1538	c.1449C>T	c.(1447-1449)taC>taT	p.Y483Y	CPN2_ENST00000429275.1_Silent_p.Y483Y	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	483					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CGGGGTTGCTGTAGGTGCACT	0.662																																						uc003fts.2		NA																	0				ovary(5)	5						c.(1447-1449)TAC>TAT		carboxypeptidase N, polypeptide 2							47.0	50.0	49.0					3																	194061983		2203	4300	6503	SO:0001819	synonymous_variant	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194061983G>A	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1449C>T	3.37:g.194061983G>A							p.Y483Y	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	1539	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		483					B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	c.1449C>T	CCDS33920.1																																																																																				0.662	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		19	37	0	0	0	0	19	37				
DHX15	1665	broad.mit.edu	37	4	24550530	24550530	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr4:24550530C>T	ENST00000336812.4	-	6	1352	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	399	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CTCAAAAATGCGTTGCTGCTG	0.363																																						uc003gqx.2		NA																	0				ovary(1)	1						c.(1195-1197)CGC>CAC		DEAH (Asp-Glu-Ala-His) box polypeptide 15							107.0	97.0	101.0					4																	24550530		2203	4300	6503	SO:0001583	missense	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24550530C>T	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1196G>A	4.37:g.24550530C>T	ENSP00000336741:p.Arg399His						p.R399H	NM_001358	NP_001349	O43143	DHX15_HUMAN			6	1364	-		Breast(46;0.0503)	399			Helicase C-terminal.		Q9NQT7	Missense_Mutation	SNP	ENST00000336812.4	37	c.1196G>A	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010435	0.93346	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.74737	-0.87	5.63	5.63	0.86233	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89608	0.6764	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.91055	0.4881	10	0.87932	D	0	-7.7915	20.0368	0.97565	0.0:1.0:0.0:0.0	.	399	O43143	DHX15_HUMAN	H	399;388	ENSP00000336741:R399H	ENSP00000336741:R399H	R	-	2	0	DHX15	24159628	1.000000	0.71417	0.871000	0.34182	0.987000	0.75469	5.542000	0.67218	2.818000	0.97014	0.591000	0.81541	CGC		0.363	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		11	37	0	0	0	0	11	37				
WDR19	57728	broad.mit.edu	37	4	39217514	39217514	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr4:39217514C>G	ENST00000399820.3	+	11	1169	c.1015C>G	c.(1015-1017)Caa>Gaa	p.Q339E	WDR19_ENST00000288634.7_Missense_Mutation_p.Q179E|WDR19_ENST00000506503.1_Missense_Mutation_p.Q339E	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	339					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						ACTCTCTACCCAAAGGGGCTC	0.448																																						uc003gtv.2		NA																	0				large_intestine(1)	1						c.(1015-1017)CAA>GAA		WD repeat domain 19							87.0	85.0	85.0					4																	39217514		1940	4130	6070	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39217514C>G	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1015C>G	4.37:g.39217514C>G	ENSP00000382717:p.Gln339Glu					WDR19_uc010ifl.1_Missense_Mutation_p.Q156E|WDR19_uc003gtu.1_Missense_Mutation_p.Q339E|WDR19_uc011byi.1_Missense_Mutation_p.Q179E|WDR19_uc003gtw.1_5'UTR	p.Q339E	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN			11	1169	+			339			WD 6.		B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	c.1015C>G	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279722	0.23392	.	.	ENSG00000157796	ENST00000399820;ENST00000288634;ENST00000506503;ENST00000399836	T;D;T	0.95588	3.55;-3.75;3.55	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.113021	0.64402	D	0.000010	D	0.92854	0.7727	L	0.59436	1.845	0.48901	D	0.99972	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	D	0.88970	0.3400	10	0.18710	T	0.47	-14.323	12.9648	0.58478	0.1612:0.8387:0.0:0.0	.	339;339	Q8NEZ3;D6R9P6	WDR19_HUMAN;.	E	339;179;339;338	ENSP00000382717:Q339E;ENSP00000288634:Q179E;ENSP00000423491:Q339E	ENSP00000288634:Q179E	Q	+	1	0	WDR19	38893909	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	3.719000	0.54926	2.450000	0.82876	0.655000	0.94253	CAA		0.448	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			20	56	0	0	0	0	20	56				
PDGFRA	5156	broad.mit.edu	37	4	55141026	55141026	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr4:55141026C>T	ENST00000257290.5	+	12	2003	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	558					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GTATGAAATTCGCTGGAGGGT	0.463			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NA		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		0				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(1672-1674)CGC>TGC		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						74.0	78.0	77.0					4																	55141026		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55141026C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1672C>T	4.37:g.55141026C>T	ENSP00000257290:p.Arg558Cys	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.R452C|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_5'Flank	p.R558C	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		12	2003	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		558			Cytoplasmic (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1672C>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973103	0.74246	.	.	ENSG00000134853	ENST00000257290	D	0.95853	-3.83	5.87	5.87	0.94306	Protein kinase-like domain (1);	0.000000	0.31872	U	0.006926	D	0.97920	0.9316	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.98089	1.0408	10	0.62326	D	0.03	.	13.1566	0.59520	0.2633:0.7367:0.0:0.0	.	558;558	P16234-3;P16234	.;PGFRA_HUMAN	C	558	ENSP00000257290:R558C	ENSP00000257290:R558C	R	+	1	0	PDGFRA	54835783	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.262000	0.51538	2.785000	0.95823	0.655000	0.94253	CGC		0.463	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		22	50	0	0	0	0	22	50				
ALB	213	broad.mit.edu	37	4	74284002	74284002	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr4:74284002G>A	ENST00000503124.1	+	10	1383	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	ALB_ENST00000509063.1_Silent_p.E542E|ALB_ENST00000401494.3_Silent_p.E427E|ALB_ENST00000295897.4_Silent_p.E542E|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Silent_p.E350E			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CACTTTCTGAGAAGGAGAGAC	0.388																																						uc003hgs.3		NA																	0				ovary(3)|skin(3)	6						c.(1624-1626)GAG>GAA		albumin preproprotein	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						105.0	103.0	104.0					4																	74284002		2203	4300	6503	SO:0001819	synonymous_variant	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74284002G>A	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.1176G>A	4.37:g.74284002G>A						ALB_uc003hgw.3_Silent_p.E350E|ALB_uc011cbe.1_Silent_p.E221E|ALB_uc003hgt.3_Silent_p.E542E|ALB_uc010iii.2_Silent_p.E427E|ALB_uc003hgu.3_Silent_p.E392E|ALB_uc003hgv.3_Silent_p.E221E|ALB_uc011cbf.1_Silent_p.E432E|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_Silent_p.E221E	p.E542E	NM_000477	NP_000468	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		12	1699	+	Breast(15;0.00102)		542			Albumin 3.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Silent	SNP	ENST00000503124.1	37	c.1626G>A		.	.	.	.	.	.	.	.	.	.	G	0.951	-0.706500	0.03230	.	.	ENSG00000163631	ENST00000511370	T	0.58210	0.35	5.94	-11.9	0.00025	.	0.855561	0.10417	N	0.677220	T	0.37293	0.0998	.	.	.	0.37008	D	0.895573	.	.	.	.	.	.	T	0.57015	-0.7883	7	0.40728	T	0.16	-5.021	2.0163	0.03499	0.2002:0.3357:0.1267:0.3374	.	.	.	.	K	387	ENSP00000426179:E387K	ENSP00000426179:E387K	E	+	1	0	ALB	74502866	0.000000	0.05858	0.000000	0.03702	0.424000	0.31475	-2.480000	0.00983	-3.851000	0.00099	-1.067000	0.02272	GAA		0.388	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		12	51	0	0	0	0	12	51				
HELQ	113510	broad.mit.edu	37	4	84368164	84368164	+	Missense_Mutation	SNP	T	T	C	rs372496040		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr4:84368164T>C	ENST00000295488.3	-	4	1378	c.1216A>G	c.(1216-1218)Ata>Gta	p.I406V	HELQ_ENST00000510985.1_Intron	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	406	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CCGAGTTCTATACCAAAACTT	0.373								Other identified genes with known or suspected DNA repair function																														uc003hom.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1216-1218)ATA>GTA	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA helicase HEL308		T	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	41.0	40.0	40.0		1216	-1.9	1.0	4		40	0,8600		0,0,4300	no	missense	HELQ	NM_133636.2	29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	406/1102	84368164	1,13005	2203	4300	6503	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84368164T>C	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1216A>G	4.37:g.84368164T>C	ENSP00000295488:p.Ile406Val					HELQ_uc010ikb.2_Intron|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA	p.I406V	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN			4	1395	-			406			Helicase ATP-binding.		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.1216A>G	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	T	2.427	-0.331823	0.05314	2.27E-4	0.0	ENSG00000163312	ENST00000295488	T	0.14516	2.5	5.44	-1.89	0.07689	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.481345	0.24014	N	0.042344	T	0.05318	0.0141	N	0.05574	-0.02	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.37478	-0.9704	10	0.29301	T	0.29	-24.9575	7.4245	0.27092	0.0974:0.3026:0.0:0.6001	.	406	Q8TDG4	HELQ_HUMAN	V	406	ENSP00000295488:I406V	ENSP00000295488:I406V	I	-	1	0	HELQ	84587188	0.017000	0.18338	0.987000	0.45799	0.323000	0.28346	-0.485000	0.06520	-0.378000	0.07918	-1.994000	0.00447	ATA		0.373	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		9	25	0	0	0	0	9	25				
BDH2	56898	broad.mit.edu	37	4	104017355	104017355	+	Silent	SNP	G	G	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr4:104017355G>C	ENST00000296424.4	-	2	177	c.57C>G	c.(55-57)ggC>ggG	p.G19G		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	19					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		CAGCTGCTTGGCCAATCCCCT	0.423																																						uc003hwz.2		NA																	0					0						c.(55-57)GGC>GGG		3-hydroxybutyrate dehydrogenase, type 2							60.0	56.0	57.0					4																	104017355		2203	4300	6503	SO:0001819	synonymous_variant	56898				fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:104017355G>C	AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	32389	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 15C, member 1"""		"""dehydrogenase/reductase (SDR family) member 6"""	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.57C>G	4.37:g.104017355G>C						BDH2_uc003hxa.2_RNA	p.G19G	NM_020139	NP_064524	Q9BUT1	BDH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)	2	162	-		Hepatocellular(203;0.217)	19			NAD.		A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Silent	SNP	ENST00000296424.4	37	c.57C>G	CCDS3663.1																																																																																				0.423	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157159.2	NM_020139		11	24	0	0	0	0	11	24				
INPP4B	8821	broad.mit.edu	37	4	143003331	143003331	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr4:143003331C>A	ENST00000513000.1	-	26	2928	c.2495G>T	c.(2494-2496)cGc>cTc	p.R832L	INPP4B_ENST00000308502.4_Missense_Mutation_p.R832L|INPP4B_ENST00000262992.4_Missense_Mutation_p.R832L|INPP4B_ENST00000509777.1_Missense_Mutation_p.R832L|INPP4B_ENST00000508116.1_Missense_Mutation_p.R832L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	832					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ATTCAGTTTGCGGCAAATCTG	0.403																																						uc003iix.3		NA																	0				ovary(1)|lung(1)	2						c.(2494-2496)CGC>CTC		inositol polyphosphate-4-phosphatase, type II,							137.0	122.0	127.0					4																	143003331		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143003331C>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2495G>T	4.37:g.143003331C>A	ENSP00000425487:p.Arg832Leu					INPP4B_uc003iiw.3_Missense_Mutation_p.R832L|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.R647L|INPP4B_uc011cho.1_RNA	p.R832L	NM_003866	NP_003857	O15327	INP4B_HUMAN			26	3090	-	all_hematologic(180;0.158)		832					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.2495G>T	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	33	5.275946	0.95459	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000511838	T;T;T;T;T;T	0.28666	1.63;1.63;1.63;1.63;1.6;1.63	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.64080	0.2566	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.68591	-0.5368	10	0.66056	D	0.02	.	19.8297	0.96630	0.0:1.0:0.0:0.0	.	832	O15327	INP4B_HUMAN	L	832;832;832;832;832;647	ENSP00000425487:R832L;ENSP00000262992:R832L;ENSP00000308441:R832L;ENSP00000423954:R832L;ENSP00000422793:R832L;ENSP00000426207:R647L	ENSP00000262992:R832L	R	-	2	0	INPP4B	143222781	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.487000	0.81328	2.697000	0.92050	0.557000	0.71058	CGC		0.403	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		11	45	1	0	0.00136819	0.00141975	11	45				
IRX2	153572	broad.mit.edu	37	5	2748625	2748625	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:2748625G>A	ENST00000382611.6	-	3	1445	c.1197C>T	c.(1195-1197)aaC>aaT	p.N399N	IRX2_ENST00000302057.5_Silent_p.N399N|IRX2_ENST00000502957.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	399					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GCAGCGCCGCGTTCAAGTTCC	0.711																																						uc003jda.2		NA																	0				skin(1)	1						c.(1195-1197)AAC>AAT		iroquois homeobox 2							38.0	39.0	39.0					5																	2748625		2189	4286	6475	SO:0001819	synonymous_variant	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2748625G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.1197C>T	5.37:g.2748625G>A						IRX2_uc003jdb.2_Silent_p.N399N	p.N399N	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	3	1439	-			399					Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	c.1197C>T	CCDS3868.1																																																																																				0.711	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			21	67	0	0	0	0	21	67				
DNAH5	1767	broad.mit.edu	37	5	13839478	13839478	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:13839478G>A	ENST00000265104.4	-	35	5973	c.5869C>T	c.(5869-5871)Cca>Tca	p.P1957S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1957	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTGTAAGTGGAGTTATTACA	0.418									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(5869-5871)CCA>TCA		dynein, axonemal, heavy chain 5							123.0	127.0	126.0					5																	13839478		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13839478G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5869C>T	5.37:g.13839478G>A	ENSP00000265104:p.Pro1957Ser						p.P1957S	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			35	5911	-	Lung NSC(4;0.00476)		1957			AAA 1 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.5869C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658883	0.88154	.	.	ENSG00000039139	ENST00000265104	T	0.15372	2.43	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.52869	0.1761	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66532	-0.5900	10	0.87932	D	0	.	17.1741	0.86837	0.0:0.0:1.0:0.0	.	1957	Q8TE73	DYH5_HUMAN	S	1957	ENSP00000265104:P1957S	ENSP00000265104:P1957S	P	-	1	0	DNAH5	13892478	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	9.835000	0.99442	2.304000	0.77564	0.655000	0.94253	CCA		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		29	104	0	0	0	0	29	104				
CCDC125	202243	broad.mit.edu	37	5	68603840	68603840	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:68603840C>T	ENST00000396496.2	-	5	576	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	CCDC125_ENST00000396499.1_Missense_Mutation_p.A157T|CCDC125_ENST00000383374.2_Missense_Mutation_p.A156T|CCDC125_ENST00000511257.1_Missense_Mutation_p.A32T|CCDC125_ENST00000460090.1_Intron			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	157						cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TGACTTGTGGCTTTGCCCAGT	0.343																																						uc003jvv.1		NA																	0					0						c.(469-471)GCC>ACC		coiled-coil domain containing 125							99.0	89.0	92.0					5																	68603840		2202	4300	6502	SO:0001583	missense	202243					cytoplasm		g.chr5:68603840C>T	AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.469G>A	5.37:g.68603840C>T	ENSP00000379754:p.Ala157Thr					CCDC125_uc003jvx.1_Missense_Mutation_p.A156T|CCDC125_uc003jvy.1_Intron|CCDC125_uc003jvw.2_Missense_Mutation_p.A32T|CCDC125_uc003jvz.1_3'UTR	p.A157T	NM_176816	NP_789786	Q86Z20	CC125_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)	4	512	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	157			Potential.		Q86Z19	Missense_Mutation	SNP	ENST00000396496.2	37	c.469G>A	CCDS4000.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904490	0.92035	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000383374;ENST00000511257	T;T;T;T	0.50277	2.56;2.56;2.56;0.75	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	L	0.36672	1.1	0.47584	D	0.999463	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.62167	-0.6911	10	0.59425	D	0.04	-8.7619	18.4207	0.90590	0.0:1.0:0.0:0.0	.	32;157	Q86Z20-2;Q86Z20	.;CC125_HUMAN	T	157;157;156;32	ENSP00000379754:A157T;ENSP00000379756:A157T;ENSP00000372865:A156T;ENSP00000426795:A32T	ENSP00000372865:A156T	A	-	1	0	CCDC125	68639596	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.959000	0.63666	2.638000	0.89438	0.650000	0.86243	GCC		0.343	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4	NM_176816		49	45	0	0	0	0	49	45				
NUDT12	83594	broad.mit.edu	37	5	102895788	102895788	+	Silent	SNP	T	T	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:102895788T>G	ENST00000230792.2	-	2	258	c.162A>C	c.(160-162)gcA>gcC	p.A54A	NUDT12_ENST00000507423.1_Intron	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	54					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GCCCATTCCTTGCCGCATACA	0.408																																						uc003koi.2		NA																	0					0						c.(160-162)GCA>GCC		nudix-type motif 12							127.0	122.0	123.0					5																	102895788		2202	4300	6502	SO:0001819	synonymous_variant	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102895788T>G	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.162A>C	5.37:g.102895788T>G						NUDT12_uc011cvb.1_Intron|NUDT12_uc010jbq.1_Silent_p.A54A	p.A54A	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	2	255	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	54			ANK 2.		B3KUW2|Q8TAL7	Silent	SNP	ENST00000230792.2	37	c.162A>C	CCDS4096.1																																																																																				0.408	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		14	106	0	0	0	0	14	106				
CXXC5	51523	broad.mit.edu	37	5	139060923	139060923	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:139060923G>A	ENST00000302517.3	+	2	1529	c.815G>A	c.(814-816)cGc>cAc	p.R272H	CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Missense_Mutation_p.R272H	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	272					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCGGCGGCGCATCAACTGC	0.572																																						uc010jfg.1		NA																	0				central_nervous_system(1)	1						c.(814-816)CGC>CAC		CXXC finger 5							62.0	73.0	69.0					5																	139060923		2020	4169	6189	SO:0001583	missense	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139060923G>A	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"""retinoid-inducible nuclear factor"", ""WT1-induced Inhibitor of Dishevelled"""	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.815G>A	5.37:g.139060923G>A	ENSP00000302543:p.Arg272His					CXXC5_uc003let.2_Missense_Mutation_p.R272H	p.R272H	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1105	+			272			CXXC-type.		B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Missense_Mutation	SNP	ENST00000302517.3	37	c.815G>A	CCDS43370.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290339	0.80914	.	.	ENSG00000171604	ENST00000302517;ENST00000511048	.	.	.	5.04	5.04	0.67666	Zinc finger, CXXC-type (2);	0.000000	0.85682	D	0.000000	T	0.64316	0.2587	L	0.29908	0.895	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	T	0.64339	-0.6431	9	0.44086	T	0.13	-16.576	13.3588	0.60644	0.0:0.0:0.8422:0.1578	.	272	Q7LFL8	CXXC5_HUMAN	H	272	.	ENSP00000302543:R272H	R	+	2	0	CXXC5	139041107	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.421000	0.80204	2.343000	0.79666	0.505000	0.49811	CGC		0.572	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		81	112	0	0	0	0	81	112				
PCDHA7	56141	broad.mit.edu	37	5	140215783	140215783	+	Silent	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:140215783G>T	ENST00000525929.1	+	1	1815	c.1815G>T	c.(1813-1815)gcG>gcT	p.A605A	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.A605A|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	605	Cadherin 6. {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(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACAACGCGTGGCTTTCGT	0.637																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NA																	0				ovary(2)|skin(2)	4						c.(1813-1815)GCG>GCT		protocadherin alpha 7 isoform 1 precursor							136.0	128.0	130.0					5																	140215783		2203	4299	6502	SO:0001819	synonymous_variant	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215783G>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1815G>T	5.37:g.140215783G>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.A605A	p.A605A	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1815	+			605			Cadherin 6.|Extracellular (Potential).		O75282	Silent	SNP	ENST00000525929.1	37	c.1815G>T	CCDS54918.1																																																																																				0.637	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		31	83	1	0	5.6e-13	6.31e-13	31	83				
PCDHA12	56137	broad.mit.edu	37	5	140256301	140256301	+	Missense_Mutation	SNP	G	G	A	rs374218090		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:140256301G>A	ENST00000398631.2	+	1	1244	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	415	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGGACCGCGAGAGCGTG	0.612																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NA																	0					0						c.(1243-1245)CGC>CAC		protocadherin alpha 12 isoform 1 precursor							191.0	187.0	188.0					5																	140256301		2203	4300	6503	SO:0001583	missense	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140256301G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1244G>A	5.37:g.140256301G>A	ENSP00000381628:p.Arg415His					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.R415H	p.R415H	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1371	+			415			Cadherin 4.|Extracellular (Potential).		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1244G>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183411	0.78677	.	.	ENSG00000251664	ENST00000398631	T	0.01725	4.67	4.66	2.76	0.32466	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.08758	0.0217	M	0.81112	2.525	0.25516	N	0.987414	D;D	0.65815	0.989;0.995	P;D	0.63283	0.851;0.913	T	0.05338	-1.0891	9	0.72032	D	0.01	.	10.683	0.45826	0.1672:0.0:0.8328:0.0	.	415;415	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	H	415	ENSP00000381628:R415H	ENSP00000381628:R415H	R	+	2	0	PCDHA12	140236485	0.036000	0.19791	0.153000	0.22517	0.848000	0.48234	2.174000	0.42482	0.448000	0.26722	0.655000	0.94253	CGC		0.612	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		57	223	0	0	0	0	57	223				
SGCD	6444	broad.mit.edu	37	5	156186283	156186283	+	Missense_Mutation	SNP	C	C	T	rs199520526		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:156186283C>T	ENST00000435422.3	+	8	1239	c.752C>T	c.(751-753)aCg>aTg	p.T251M	SGCD_ENST00000337851.4_Missense_Mutation_p.T252M	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	251					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGATCCTACACGCCTACAGGA	0.498																																						uc003lwd.3		NA																	0					0						c.(751-753)ACG>ATG		delta-sarcoglycan isoform 3		C	MET/THR,MET/THR	1,3937		0,1,1968	117.0	112.0	114.0		755,752	4.9	0.7	5		114	1,8321		0,1,4160	yes	missense,missense	SGCD	NM_000337.5,NM_001128209.1	81,81	0,2,6128	TT,TC,CC		0.012,0.0254,0.0163	benign,benign	252/291,251/290	156186283	2,12258	1969	4161	6130	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:156186283C>T	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.752C>T	5.37:g.156186283C>T	ENSP00000403003:p.Thr251Met					SGCD_uc003lwc.3_Missense_Mutation_p.T252M	p.T251M	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		8	1228	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	251			Extracellular (Potential).		A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.752C>T	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850178	0.71719	2.54E-4	1.2E-4	ENSG00000170624	ENST00000435422;ENST00000337851	D;D	0.86230	-2.09;-2.09	4.93	4.93	0.64822	.	0.053839	0.85682	D	0.000000	T	0.76737	0.4029	N	0.08118	0	0.80722	D	1	B;B	0.19935	0.04;0.033	B;B	0.14578	0.011;0.007	T	0.71286	-0.4638	10	0.33141	T	0.24	-22.8323	18.5207	0.90951	0.0:1.0:0.0:0.0	.	251;252	Q92629;Q92629-2	SGCD_HUMAN;.	M	251;252	ENSP00000403003:T251M;ENSP00000338343:T252M	ENSP00000338343:T252M	T	+	2	0	SGCD	156118861	1.000000	0.71417	0.717000	0.30585	0.738000	0.42128	4.990000	0.63876	2.447000	0.82792	0.655000	0.94253	ACG		0.498	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			20	106	0	0	0	0	20	106				
STK10	6793	broad.mit.edu	37	5	171520586	171520586	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:171520586C>T	ENST00000176763.5	-	9	1727	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	462					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCTTCTCCCCACCCAAGGTC	0.652																																						uc003mbo.1		NA																	0				ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(1384-1386)GGG>AGG		serine/threonine kinase 10							51.0	57.0	55.0					5																	171520586		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171520586C>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1384G>A	5.37:g.171520586C>T	ENSP00000176763:p.Gly462Arg						p.G462R	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		9	1684	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	462					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.1384G>A	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	3.482	-0.105764	0.06924	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.29655	1.56	4.95	-0.243	0.13035	.	1.331970	0.04889	N	0.449221	T	0.25344	0.0616	L	0.47716	1.5	0.09310	N	1	B	0.24823	0.112	B	0.17722	0.019	T	0.23013	-1.0200	10	0.16420	T	0.52	.	7.9077	0.29771	0.0:0.5028:0.0:0.4972	.	462	O94804	STK10_HUMAN	R	462	ENSP00000176763:G462R	ENSP00000176763:G462R	G	-	1	0	STK10	171453191	0.000000	0.05858	0.000000	0.03702	0.669000	0.39330	0.003000	0.13083	-0.304000	0.08843	0.650000	0.86243	GGG		0.652	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		23	96	0	0	0	0	23	96				
STK10	6793	broad.mit.edu	37	5	171534817	171534817	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:171534817T>C	ENST00000176763.5	-	5	903	c.560A>G	c.(559-561)cAg>cGg	p.Q187R		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	187	Activation segment.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATCTCGTTTCTGTAGAGTCTT	0.498											OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003mbo.1		NA																	0				ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(559-561)CAG>CGG		serine/threonine kinase 10							90.0	86.0	88.0					5																	171534817		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171534817T>C	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.560A>G	5.37:g.171534817T>C	ENSP00000176763:p.Gln187Arg		OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1893		p.Q187R	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	860	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	187			Protein kinase.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.560A>G	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	.	20.4	3.981832	0.74474	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.65178	-0.14	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	N	0.11106	0.095	0.80722	D	1	D	0.64830	0.994	D	0.70016	0.967	T	0.70226	-0.4930	10	0.72032	D	0.01	.	13.822	0.63329	0.0:0.0:0.0:1.0	.	187	O94804	STK10_HUMAN	R	187	ENSP00000176763:Q187R	ENSP00000176763:Q187R	Q	-	2	0	STK10	171467422	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.946000	0.87746	2.145000	0.66743	0.533000	0.62120	CAG		0.498	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		14	54	0	0	0	0	14	54				
SH3PXD2B	285590	broad.mit.edu	37	5	171774317	171774317	+	Silent	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:171774317C>T	ENST00000311601.5	-	11	1202	c.1032G>A	c.(1030-1032)caG>caA	p.Q344Q	SH3PXD2B_ENST00000519643.1_Silent_p.Q344Q	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	344					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGGGGGTCTCTGCCTCATCT	0.542																																						uc003mbr.2		NA																	0				ovary(3)|skin(1)	4						c.(1030-1032)CAG>CAA		SH3 and PX domains 2B							107.0	94.0	98.0					5																	171774317		2203	4300	6503	SO:0001819	synonymous_variant	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171774317C>T	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1032G>A	5.37:g.171774317C>T							p.Q344Q	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		11	1203	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	344					B6F0V2|Q9P2Q1	Silent	SNP	ENST00000311601.5	37	c.1032G>A	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	C	8.328	0.825832	0.16749	.	.	ENSG00000174705	ENST00000518522	.	.	.	5.25	4.37	0.52481	.	.	.	.	.	T	0.62502	0.2433	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60687	-0.7214	4	.	.	.	-26.6747	11.1045	0.48194	0.0:0.9069:0.0:0.0931	.	.	.	.	K	15	.	.	R	-	2	0	SH3PXD2B	171706922	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.844000	0.48246	1.307000	0.44944	0.561000	0.74099	AGA		0.542	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		11	79	0	0	0	0	11	79				
GPX6	257202	broad.mit.edu	37	6	28473490	28473490	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:28473490G>T	ENST00000361902.1	-	4	498	c.449C>A	c.(448-450)aCt>aAt	p.T150N	GPX6_ENST00000474923.1_Intron|GPX6_ENST00000483058.1_5'Flank	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	150					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	CTTCAGGAAAGTAAAGACCTT	0.473																																						uc011dlj.1		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(448-450)ACT>AAT		glutathione peroxidase 6 precursor	Glutathione(DB00143)						86.0	90.0	89.0					6																	28473490		2112	4257	6369	SO:0001583	missense	257202				response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28473490G>T		CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"""glutathione peroxidase pseudogene 3"""	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000361902.1:c.449C>A	6.37:g.28473490G>T	ENSP00000354581:p.Thr150Asn					GPX6_uc010jrg.1_Intron	p.T150N	NM_182701	NP_874360	P59796	GPX6_HUMAN			5	499	-			150					Q4PJ17	Missense_Mutation	SNP	ENST00000361902.1	37	c.449C>A	CCDS43432.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452831	0.84209	.	.	ENSG00000198704	ENST00000361902	T	0.03920	3.76	4.44	4.44	0.53790	Thioredoxin-like fold (2);	0.097879	0.64402	D	0.000002	T	0.08891	0.0220	L	0.53671	1.685	0.80722	D	1	D	0.54207	0.965	P	0.60949	0.881	T	0.11616	-1.0580	10	0.38643	T	0.18	.	15.3761	0.74607	0.0:0.0:1.0:0.0	.	150	P59796	GPX6_HUMAN	N	150	ENSP00000354581:T150N	ENSP00000354581:T150N	T	-	2	0	GPX6	28581469	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	4.285000	0.58989	2.729000	0.93468	0.655000	0.94253	ACT		0.473	GPX6-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000104340.1			15	72	1	0	6.32e-08	6.87e-08	15	72				
HLA-DOB	3112	broad.mit.edu	37	6	32782192	32782192	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:32782192G>A	ENST00000438763.2	-	3	644	c.548C>T	c.(547-549)aCt>aTt	p.T183I	TAP2_ENST00000452392.2_Missense_Mutation_p.T790I	NM_002120.3	NP_002111.1	P13765	DOB_HUMAN	major histocompatibility complex, class II, DO beta	183	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	9						CATCACCACAGTCTGAAAGGT	0.532																																						uc011dqf.1		NA																	0					0						c.(2368-2370)ACT>ATT		transporter 2, ATP-binding cassette, sub-family							228.0	184.0	200.0					6																	32782192		1511	2709	4220	SO:0001583	missense	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32782192G>A		CCDS4754.1	6p21.3	2013-01-11			ENSG00000241106	ENSG00000241106		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4937	protein-coding gene	gene with protein product		600629					Standard	NM_002120		Approved			P13765	OTTHUMG00000031213	ENST00000438763.2:c.548C>T	6.37:g.32782192G>A	ENSP00000390020:p.Thr183Ile					HLA-DOB_uc003oca.2_Missense_Mutation_p.T183I|HLA-DOB_uc011dqg.1_Missense_Mutation_p.T183I	p.T790I	NM_018833	NP_061313	Q03519	TAP2_HUMAN			14	2491	-			Error:Variant_position_missing_in_Q03519_after_alignment					B0V0Y0|Q29746|Q29825|Q6FHC2	Missense_Mutation	SNP	ENST00000438763.2	37	c.2369C>T	CCDS4754.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839623	0.32513	.	.	ENSG00000241106;ENSG00000250264	ENST00000438763;ENST00000452392	T;T	0.02552	4.25;4.25	3.96	1.24	0.21308	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.250524	0.38778	N	0.001563	T	0.00845	0.0028	N	0.02142	-0.665	0.27418	N	0.954378	B;B;P	0.36392	0.199;0.08;0.551	B;B;P	0.53313	0.184;0.288;0.723	T	0.48103	-0.9064	10	0.33940	T	0.23	.	6.1585	0.20350	0.4243:0.0:0.5757:0.0	.	183;790;183	B7Z742;E7ENX8;P13765	.;.;DOB_HUMAN	I	183;790	ENSP00000390020:T183I;ENSP00000391806:T790I	ENSP00000390020:T183I	T	-	2	0	XXbac-BPG246D15.9;HLA-DOB	32890170	0.679000	0.27596	0.314000	0.25224	0.992000	0.81027	0.904000	0.28491	0.258000	0.21686	0.643000	0.83706	ACT		0.532	HLA-DOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076439.1	NM_002120		33	88	0	0	0	0	33	88				
GRM4	2914	broad.mit.edu	37	6	34029792	34029792	+	Silent	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:34029792G>T	ENST00000538487.2	-	4	1193	c.750C>A	c.(748-750)atC>atA	p.I250I	GRM4_ENST00000374177.3_Silent_p.I181I|GRM4_ENST00000374181.4_Silent_p.I250I|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000609222.1_Silent_p.I117I|GRM4_ENST00000535756.1_Silent_p.I117I|GRM4_ENST00000455714.2_Silent_p.I110I|GRM4_ENST00000544773.2_Silent_p.I81I	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	250					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCGACTGGGCGATGCACACGC	0.627																																						uc003oir.3		NA																	0				lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(748-750)ATC>ATA		glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)						85.0	75.0	79.0					6																	34029792		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34029792G>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.750C>A	6.37:g.34029792G>T						GRM4_uc011dsn.1_Silent_p.I250I|GRM4_uc010jvh.2_Silent_p.I250I|GRM4_uc010jvi.2_5'UTR|GRM4_uc003oio.2_5'UTR|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.I110I|GRM4_uc003oiq.2_Silent_p.I117I|GRM4_uc011dsm.1_Silent_p.I81I	p.I250I	NM_000841	NP_000832	Q14833	GRM4_HUMAN			3	920	-			250			Extracellular (Potential).		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.750C>A	CCDS4787.1																																																																																				0.627	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			26	28	1	0	1.66e-10	1.83e-10	26	28				
PAQR8	85315	broad.mit.edu	37	6	52268776	52268776	+	Silent	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:52268776C>T	ENST00000442253.2	+	2	939	c.765C>T	c.(763-765)ttC>ttT	p.F255F	PAQR8_ENST00000360726.3_Silent_p.F255F	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	255					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCCTCTTCTTCCTGGTTAGCG	0.577																																						uc003pao.3		NA																	0					0						c.(763-765)TTC>TTT		progestin and adipoQ receptor family member							116.0	106.0	109.0					6																	52268776		2203	4300	6503	SO:0001819	synonymous_variant	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268776C>T	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.765C>T	6.37:g.52268776C>T							p.F255F	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN			2	939	+	Lung NSC(77;0.0875)		255			Helical; Name=5; (Potential).		B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	ENST00000442253.2	37	c.765C>T	CCDS4941.1																																																																																				0.577	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		14	55	0	0	0	0	14	55				
FAM83B	222584	broad.mit.edu	37	6	54735396	54735396	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:54735396G>A	ENST00000306858.7	+	2	468	c.352G>A	c.(352-354)Ggc>Agc	p.G118S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	118										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACTCTTAGGGGGCACCCATAT	0.433																																						uc003pck.2		NA																	0				ovary(6)	6						c.(352-354)GGC>AGC		hypothetical protein LOC222584							82.0	85.0	84.0					6																	54735396		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54735396G>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.352G>A	6.37:g.54735396G>A	ENSP00000304078:p.Gly118Ser						p.G118S	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			2	468	+	Lung NSC(77;0.0178)|Renal(3;0.122)		118					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.352G>A	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	4.659	0.122515	0.08931	.	.	ENSG00000168143	ENST00000306858	T	0.15017	2.46	5.66	-0.442	0.12253	.	0.979312	0.08434	N	0.946545	T	0.03136	0.0092	N	0.19112	0.55	0.09310	N	1	B	0.13594	0.008	B	0.16722	0.016	T	0.47548	-0.9109	10	0.19590	T	0.45	-1.6179	9.9695	0.41745	0.4939:0.0:0.5061:0.0	.	118	Q5T0W9	FA83B_HUMAN	S	118	ENSP00000304078:G118S	ENSP00000304078:G118S	G	+	1	0	FAM83B	54843355	0.002000	0.14202	0.000000	0.03702	0.073000	0.16967	0.477000	0.22196	-0.079000	0.12707	-0.237000	0.12165	GGC		0.433	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		32	93	0	0	0	0	32	93				
EPHA7	2045	broad.mit.edu	37	6	94068069	94068069	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:94068069G>T	ENST00000369303.4	-	4	1077	c.893C>A	c.(892-894)aCt>aAt	p.T298N		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	298	Cys-rich.				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)		AAAACTGTGAGTTGGACAACG	0.473																																						uc003poe.2		NA																	0				lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(892-894)ACT>AAT		ephrin receptor EphA7 precursor							97.0	90.0	93.0					6																	94068069		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94068069G>T	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.893C>A	6.37:g.94068069G>T	ENSP00000358309:p.Thr298Asn					EPHA7_uc003pof.2_Missense_Mutation_p.T298N|EPHA7_uc011eac.1_Missense_Mutation_p.T298N	p.T298N	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	4	1134	-		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)	298			Extracellular (Potential).|Cys-rich.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.893C>A	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237948	0.58886	.	.	ENSG00000135333	ENST00000369303	T	0.28454	1.61	5.62	4.69	0.59074	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.252421	0.40385	N	0.001105	T	0.06600	0.0169	N	0.02539	-0.55	0.80722	D	1	B;B;B	0.24132	0.078;0.098;0.058	B;B;B	0.26094	0.017;0.054;0.066	T	0.08126	-1.0737	10	0.62326	D	0.03	.	10.3738	0.44071	0.073:0.1365:0.7905:0.0	.	298;298;298	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	N	298	ENSP00000358309:T298N	ENSP00000358309:T298N	T	-	2	0	EPHA7	94124790	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.747000	0.62141	2.652000	0.90054	0.655000	0.94253	ACT		0.473	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			10	66	1	0	2.18e-05	2.29e-05	10	66				
SIM1	6492	broad.mit.edu	37	6	100841635	100841635	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:100841635G>A	ENST00000369208.3	-	11	2080	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	SIM1_ENST00000262901.4_Missense_Mutation_p.S433L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	433	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTAGGCGCACGATGCGTCGTG	0.617																																						uc003pqj.3		NA																	0				ovary(4)	4						c.(1297-1299)TCG>TTG		single-minded homolog 1							71.0	68.0	69.0					6																	100841635		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841635G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1298C>T	6.37:g.100841635G>A	ENSP00000358210:p.Ser433Leu					SIM1_uc010kcu.2_Missense_Mutation_p.S433L	p.S433L	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	10	1505	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	433			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1298C>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621681	0.66787	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.29142	1.58;1.58	5.78	5.78	0.91487	Single-minded, C-terminal (2);	0.152148	0.64402	D	0.000009	T	0.33000	0.0848	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.03374	-1.1043	10	0.25106	T	0.35	.	20.0086	0.97443	0.0:0.0:1.0:0.0	.	433	P81133	SIM1_HUMAN	L	433	ENSP00000358210:S433L;ENSP00000262901:S433L	ENSP00000262901:S433L	S	-	2	0	SIM1	100948356	1.000000	0.71417	0.038000	0.18304	0.736000	0.42039	9.476000	0.97823	2.731000	0.93534	0.655000	0.94253	TCG		0.617	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		13	59	0	0	0	0	13	59				
LIN28B	389421	broad.mit.edu	37	6	105406144	105406144	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:105406144G>A	ENST00000345080.4	+	2	384	c.181G>A	c.(181-183)Gat>Aat	p.D61N		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	61	CSD.				miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				TATTCCAGTCGATGTATTTGT	0.458																																						uc003pqv.1		NA																	0					0						c.(181-183)GAT>AAT		lin-28 homolog B							91.0	95.0	93.0					6																	105406144		2203	4300	6503	SO:0001583	missense	389421				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr6:105406144G>A	AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.181G>A	6.37:g.105406144G>A	ENSP00000344401:p.Asp61Asn					LIN28B_uc010kda.1_Missense_Mutation_p.D21N	p.D61N	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN			2	384	+		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)	61			CSD.		A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	ENST00000345080.4	37	c.181G>A	CCDS34504.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820077	0.90873	.	.	ENSG00000187772	ENST00000345080	.	.	.	5.78	5.78	0.91487	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.89466	0.6723	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.92093	0.5682	9	0.72032	D	0.01	-14.1624	20.0044	0.97430	0.0:0.0:1.0:0.0	.	38;61	A7E2T3;Q6ZN17	.;LN28B_HUMAN	N	61	.	ENSP00000344401:D61N	D	+	1	0	LIN28B	105512837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.714000	0.92807	0.650000	0.86243	GAT		0.458	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	NM_001004317		39	114	0	0	0	0	39	114				
RTN4IP1	84816	broad.mit.edu	37	6	107019900	107019900	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:107019900G>A	ENST00000369063.3	-	9	1627	c.1162C>T	c.(1162-1164)Cga>Tga	p.R388*	RTN4IP1_ENST00000498091.1_5'UTR|RTN4IP1_ENST00000539449.1_3'UTR	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	388						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		GTCTTTCCTCGTGCGTGTCCT	0.383																																						uc003prj.2		NA																	0					0						c.(1162-1164)CGA>TGA		reticulon 4 interacting protein 1 precursor							127.0	122.0	124.0					6																	107019900		2203	4300	6503	SO:0001587	stop_gained	84816					mitochondrion	oxidoreductase activity|zinc ion binding	g.chr6:107019900G>A	AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.1162C>T	6.37:g.107019900G>A	ENSP00000358059:p.Arg388*					RTN4IP1_uc010kdd.2_3'UTR|RTN4IP1_uc003prk.2_Nonsense_Mutation_p.R288*	p.R388*	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)	9	1639	-	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	388					Q8N9B3|Q8WZ66|Q9BRA4	Nonsense_Mutation	SNP	ENST00000369063.3	37	c.1162C>T	CCDS5056.1	.	.	.	.	.	.	.	.	.	.	G	41	8.943838	0.99012	.	.	ENSG00000130347	ENST00000369063	.	.	.	6.02	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7092	14.799	0.69900	0.0:0.0:0.8481:0.1519	.	.	.	.	X	388	.	ENSP00000358059:R388X	R	-	1	2	RTN4IP1	107126593	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	4.097000	0.57741	1.511000	0.48818	0.650000	0.86243	CGA		0.383	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1			21	94	0	0	0	0	21	94				
FAM184A	79632	broad.mit.edu	37	6	119341157	119341157	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:119341157G>T	ENST00000338891.7	-	4	1761	c.1318C>A	c.(1318-1320)Cta>Ata	p.L440I	FAM184A_ENST00000522284.1_Missense_Mutation_p.L320I|FAM184A_ENST00000368475.4_Missense_Mutation_p.L320I|FAM184A_ENST00000521531.1_Missense_Mutation_p.L440I|FAM184A_ENST00000352896.5_Missense_Mutation_p.L320I|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	440						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCCAGTTCTAGAATCTGTTGC	0.388																																						uc003pyj.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						c.(1318-1320)CTA>ATA		hypothetical protein LOC79632 isoform 1							159.0	148.0	152.0					6																	119341157		1843	4083	5926	SO:0001583	missense	79632							g.chr6:119341157G>T	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1318C>A	6.37:g.119341157G>T	ENSP00000342604:p.Leu440Ile					FAM184A_uc003pyk.3_Missense_Mutation_p.L320I|FAM184A_uc003pyl.3_Missense_Mutation_p.L320I	p.L440I	NM_024581	NP_078857	Q8NB25	F184A_HUMAN			4	1666	-			440			Potential.		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.1318C>A	CCDS43499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.81|12.81	2.049034|2.049034	0.36181|0.36181	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000448815|ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	.|T;T;T;T;T	.|0.33216	.|1.42;1.42;1.42;1.42;1.42	5.85|5.85	-2.1|-2.1	0.07210|0.07210	.|.	.|0.346678	.|0.26510	.|N	.|0.023977	T|T	0.10637|0.10637	0.0260|0.0260	M|M	0.62723|0.62723	1.935|1.935	0.25729|0.25729	N|N	0.985285|0.985285	.|B;B;B	.|0.17038	.|0.016;0.007;0.02	.|B;B;B	.|0.20767	.|0.022;0.016;0.031	T|T	0.32079|0.32079	-0.9920|-0.9920	5|10	.|0.37606	.|T	.|0.19	-3.0423|-3.0423	7.9499|7.9499	0.30008|0.30008	0.3258:0.4244:0.2497:0.0|0.3258:0.4244:0.2497:0.0	.|.	.|440;320;440	.|Q8NB25-2;F8W8D6;Q8NB25	.|.;.;F184A_HUMAN	L|I	25|440;320;320;440;320	.|ENSP00000342604:L440I;ENSP00000326608:L320I;ENSP00000357460:L320I;ENSP00000430442:L440I;ENSP00000429826:L320I	.|ENSP00000342604:L440I	F|L	-|-	3|1	2|2	FAM184A|FAM184A	119382856|119382856	0.916000|0.916000	0.31088|0.31088	0.463000|0.463000	0.27130|0.27130	0.956000|0.956000	0.61745|0.61745	0.586000|0.586000	0.23894|0.23894	-0.843000|-0.843000	0.04189|0.04189	-0.266000|-0.266000	0.10368|0.10368	TTC|CTA		0.388	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		25	58	1	0	3.65e-15	4.12e-15	25	58				
TBC1D32	221322	broad.mit.edu	37	6	121600349	121600349	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:121600349C>A	ENST00000398212.2	-	15	1700	c.1651G>T	c.(1651-1653)Ggt>Tgt	p.G551C	TBC1D32_ENST00000275159.6_Missense_Mutation_p.G551C	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	551					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										GCCAAAATACCAGCTATATGA	0.323																																						uc003pyo.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1651-1653)GGT>TGT		hypothetical protein LOC221322							64.0	63.0	64.0					6																	121600349		1809	4081	5890	SO:0001583	missense	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121600349C>A	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1651G>T	6.37:g.121600349C>A	ENSP00000381270:p.Gly551Cys					C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Missense_Mutation_p.G70C	p.G551C	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	15	1719	-			551					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.1651G>T	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510428	0.64522	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.17528	2.27;2.27	5.49	4.62	0.57501	.	0.120008	0.53938	D	0.000049	T	0.07863	0.0197	N	0.08118	0	0.28054	N	0.933242	D;D	0.54964	0.969;0.958	P;P	0.52758	0.708;0.584	T	0.09885	-1.0654	10	0.72032	D	0.01	-10.9819	14.3059	0.66384	0.0:0.8513:0.1487:0.0	.	551;551	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	C	551	ENSP00000275159:G551C;ENSP00000381270:G551C	ENSP00000275159:G551C	G	-	1	0	C6orf170	121642048	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	3.222000	0.51223	1.313000	0.45069	0.585000	0.79938	GGT		0.323	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		18	72	1	0	1.03e-11	1.15e-11	18	72				
PBOV1	59351	broad.mit.edu	37	6	138539373	138539373	+	Nonsense_Mutation	SNP	G	G	A	rs373323732		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:138539373G>A	ENST00000527246.2	-	1	254	c.160C>T	c.(160-162)Cga>Tga	p.R54*	KIAA1244_ENST00000251691.4_Intron	NM_021635.2	NP_067648.1	Q9GZY1	PBOV1_HUMAN	prostate and breast cancer overexpressed 1	54						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R54*(2)		endometrium(1)	1	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)		TCTTTTTTTCGAAATACCTtg	0.393																																						uc003qhv.2		NA																	2	Substitution - Nonsense(2)		endometrium(2)		0						c.(160-162)CGA>TGA		prostate and breast cancer overexpressed 1		G	,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	120.0	117.0	118.0		,160	-1.6	0.0	6		118	0,8600		0,0,4300	no	intron,stop-gained	KIAA1244,PBOV1	NM_020340.4,NM_021635.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	,54/136	138539373	1,13005	2203	4300	6503	SO:0001587	stop_gained	59351					cytoplasm|nucleus		g.chr6:138539373G>A	AF189269	CCDS5190.1	6q23.3	2012-02-09			ENSG00000254440	ENSG00000254440			21079	protein-coding gene	gene with protein product		605669				12553037, 11156405	Standard	NM_021635		Approved	UC28, UROC28	uc003qhv.3	Q9GZY1	OTTHUMG00000167040	ENST00000527246.2:c.160C>T	6.37:g.138539373G>A	ENSP00000432353:p.Arg54*					KIAA1244_uc003qhu.2_Intron	p.R54*	NM_021635	NP_067648	Q9GZY1	PBOV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)	1	255	-	Breast(32;0.135)		54						Nonsense_Mutation	SNP	ENST00000527246.2	37	c.160C>T	CCDS5190.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881243	0.51801	2.27E-4	0.0	ENSG00000254440	ENST00000527246	.	.	.	2.86	-1.59	0.08453	.	.	.	.	.	.	.	.	.	.	.	0.51767	D	0.999934	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.1254	0.03737	0.4464:0.0:0.3108:0.2428	.	.	.	.	X	54	.	ENSP00000432353:R54X	R	-	1	2	PBOV1	138581066	0.003000	0.15002	0.004000	0.12327	0.133000	0.20885	0.048000	0.14078	-0.024000	0.13941	-0.238000	0.12139	CGA		0.393	PBOV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392617.1	NM_021635		10	33	0	0	0	0	10	33				
CARD11	84433	broad.mit.edu	37	7	2946386	2946386	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:2946386G>A	ENST00000396946.4	-	25	3754	c.3351C>T	c.(3349-3351)taC>taT	p.Y1117Y		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1117	Guanylate kinase-like.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.Y1110Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCACCGTGGCGTACAGGCACG	0.647			Mis		DLBCL																																	uc003smv.2		NA		Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		1	Substitution - coding silent(1)		large_intestine(1)	haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(3349-3351)TAC>TAT		caspase recruitment domain family, member 11							68.0	53.0	58.0					7																	2946386		2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2946386G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.3351C>T	7.37:g.2946386G>A							p.Y1117Y	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	25	3755	-		Ovarian(82;0.0115)	1117			Guanylate kinase-like.		A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.3351C>T	CCDS5336.2																																																																																				0.647	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		9	30	0	0	0	0	9	30				
GCK	2645	broad.mit.edu	37	7	44187277	44187277	+	Missense_Mutation	SNP	C	C	T	rs104894005	byFrequency	TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:44187277C>T	ENST00000403799.3	-	7	1304	c.835G>A	c.(835-837)Gag>Aag	p.E279K	GCK_ENST00000437084.1_Missense_Mutation_p.E262K|GCK_ENST00000395796.3_Missense_Mutation_p.E278K|GCK_ENST00000345378.2_Missense_Mutation_p.E280K	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	279	Hexokinase type-2.		E -> Q (in MODY2; dbSNP:rs104894005).		calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GCAGAGCTCTCGTCCACCAGG	0.692																																						uc003tkl.2		NA																	0				skin(3)|lung(1)	4	GRCh37	CM920307|CM930304	GCK	M	rs104894005	c.(835-837)GAG>AAG		glucokinase isoform 1							63.0	65.0	64.0					7																	44187277		2203	4300	6503	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44187277C>T	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.835G>A	7.37:g.44187277C>T	ENSP00000384247:p.Glu279Lys					GCK_uc003tkh.1_5'Flank|GCK_uc003tki.1_5'Flank|GCK_uc003tkj.1_Missense_Mutation_p.E278K|GCK_uc003tkk.1_Missense_Mutation_p.E280K	p.E279K	NM_000162	NP_000153	P35557	HXK4_HUMAN			7	1305	-			279		E -> Q (in MODY2).			A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.835G>A	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155461	0.94686	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06	5.5	5.5	0.81552	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95194	0.8442	L	0.42744	1.35	0.80722	D	1	D;B;P	0.53619	0.961;0.046;0.951	P;B;B	0.47134	0.539;0.015;0.403	D	0.94239	0.7483	10	0.33141	T	0.24	-36.6485	18.9928	0.92800	0.0:1.0:0.0:0.0	.	279;280;278	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	K	279;278;280;262	ENSP00000384247:E279K;ENSP00000379142:E278K;ENSP00000223366:E280K;ENSP00000402840:E262K	ENSP00000223366:E280K	E	-	1	0	GCK	44153802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.025000	0.57225	2.585000	0.87301	0.561000	0.74099	GAG		0.692	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			23	62	0	0	0	0	23	62				
PPP1R9A	55607	broad.mit.edu	37	7	94897863	94897863	+	Splice_Site	SNP	C	C	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:94897863C>A	ENST00000433881.1	+	12	3133	c.2601C>A	c.(2599-2601)gaC>gaA	p.D867E	PPP1R9A_ENST00000424654.1_Splice_Site_p.D867E|PPP1R9A_ENST00000289495.5_Splice_Site_p.D867E|PPP1R9A_ENST00000433360.1_Splice_Site_p.D889E|PPP1R9A_ENST00000340694.4_Splice_Site_p.D867E|PPP1R9A_ENST00000456331.2_Splice_Site_p.D867E			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	867	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TATTCTTAGACTTGAATGAAG	0.443										HNSCC(28;0.073)																												uc003unp.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(2599-2601)GAC>GAA		protein phosphatase 1, regulatory (inhibitor)							60.0	64.0	63.0					7																	94897863		2203	4299	6502	SO:0001630	splice_region_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94897863C>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2600-1C>A	7.37:g.94897863C>A		HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Missense_Mutation_p.D889E|PPP1R9A_uc011kif.1_Missense_Mutation_p.D867E|PPP1R9A_uc003unq.2_Missense_Mutation_p.D867E|PPP1R9A_uc011kig.1_Missense_Mutation_p.D867E|PPP1R9A_uc003unr.2_5'UTR	p.D867E	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		12	2883	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		867			Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.2601C>A	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067964	0.55539	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.33654	1.44;1.8;1.4;1.8;1.46;1.4	4.52	2.73	0.32206	.	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	N	0.05124	-0.11	0.44611	D	0.997585	B;D;P;D;P	0.63880	0.032;0.993;0.825;0.984;0.741	B;D;P;D;B	0.70016	0.041;0.949;0.551;0.967;0.126	T	0.10730	-1.0617	10	0.27785	T	0.31	.	5.4214	0.16402	0.0:0.5553:0.0:0.4447	.	867;867;889;867;867	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	E	889;867;867;867;867;867	ENSP00000405514:D889E;ENSP00000344524:D867E;ENSP00000411342:D867E;ENSP00000398870:D867E;ENSP00000289495:D867E;ENSP00000402893:D867E	ENSP00000289495:D867E	D	+	3	2	PPP1R9A	94735799	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	0.905000	0.28504	0.845000	0.35118	0.655000	0.94253	GAC		0.443	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160	Missense_Mutation	25	48	1	0	1.43e-11	1.58e-11	25	48				
RELN	5649	broad.mit.edu	37	7	103270590	103270590	+	Silent	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:103270590C>T	ENST00000428762.1	-	20	2658	c.2499G>A	c.(2497-2499)aaG>aaA	p.K833K	RELN_ENST00000424685.2_Silent_p.K833K|RELN_ENST00000343529.5_Silent_p.K833K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	833					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCCAAACTGCTTTGCATCAC	0.343																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(2497-2499)AAG>AAA		reelin isoform a							104.0	106.0	105.0					7																	103270590		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103270590C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2499G>A	7.37:g.103270590C>T						RELN_uc010liz.2_Silent_p.K833K	p.K833K	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	20	2659	-			833					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.2499G>A	CCDS47680.1																																																																																				0.343	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		16	80	0	0	0	0	16	80				
PUS7	54517	broad.mit.edu	37	7	105099648	105099648	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:105099648G>A	ENST00000356362.2	-	15	2030	c.1816C>T	c.(1816-1818)Cta>Tta	p.L606L	PUS7_ENST00000469408.1_Silent_p.L606L	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	606					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TTCCCTTCTAGGTTGTCCACA	0.348																																					Colon(138;2387 3051 17860)	uc003vcx.2		NA																	0				breast(1)	1						c.(1816-1818)CTA>TTA		pseudouridylate synthase 7 homolog							143.0	122.0	129.0					7																	105099648		2203	4300	6503	SO:0001819	synonymous_variant	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105099648G>A	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1816C>T	7.37:g.105099648G>A						PUS7_uc010lji.2_Silent_p.L612L|PUS7_uc003vcy.2_Silent_p.L606L|PUS7_uc003vcz.1_Silent_p.L606L	p.L606L	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN			15	2035	-			606					Q75MG4|Q9NX19	Silent	SNP	ENST00000356362.2	37	c.1816C>T	CCDS34725.1																																																																																				0.348	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		14	41	0	0	0	0	14	41				
CADPS2	93664	broad.mit.edu	37	7	122111562	122111562	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:122111562C>T	ENST00000449022.2	-	14	2072	c.2053G>A	c.(2053-2055)Ggt>Agt	p.G685S	CADPS2_ENST00000313070.7_Missense_Mutation_p.G682S|CADPS2_ENST00000412584.2_Missense_Mutation_p.G682S|CADPS2_ENST00000334010.7_Missense_Mutation_p.G686S	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	685					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.G685C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CCTCTCACACCATAACGGGCA	0.418																																						uc010lkp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2053-2055)GGT>AGT		Ca2+-dependent activator protein for secretion 2							66.0	68.0	67.0					7																	122111562		1955	4168	6123	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122111562C>T		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2053G>A	7.37:g.122111562C>T	ENSP00000398481:p.Gly685Ser					CADPS2_uc011knx.1_Missense_Mutation_p.G56S|CADPS2_uc003vkg.3_Missense_Mutation_p.G382S|CADPS2_uc010lkq.2_Missense_Mutation_p.G682S	p.G685S	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			13	2216	-			685					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.2053G>A	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.663574|5.663574	0.96745|0.96745	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721	T;T;T;T|.	0.26223|.	1.75;1.75;1.75;1.75|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.82222|.	0.4990|.	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.994;0.999;0.999|.	T|.	0.81378|.	-0.0960|.	10|.	0.72032|.	D|.	0.01|.	-16.5367|-16.5367	20.2985|20.2985	0.98592|0.98592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	685;682;685;682|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.	.;.;CAPS2_HUMAN;.|.	S|X	682;686;686;649;682;685|330	ENSP00000325581:G682S;ENSP00000333940:G686S;ENSP00000400401:G682S;ENSP00000398481:G685S|.	ENSP00000325581:G682S|.	G|W	-|-	1|2	0|0	CADPS2|CADPS2	121898798|121898798	1.000000|1.000000	0.71417|0.71417	0.876000|0.876000	0.34364|0.34364	0.990000|0.990000	0.78478|0.78478	7.818000|7.818000	0.86416|0.86416	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.418	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		3	10	0	0	0	0	3	10				
IMPDH1	3614	broad.mit.edu	37	7	128038619	128038619	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:128038619G>T	ENST00000480861.1	-	7	730	c.653C>A	c.(652-654)gCc>gAc	p.A218D	IMPDH1_ENST00000496200.1_Missense_Mutation_p.A198D|IMPDH1_ENST00000354269.5_Missense_Mutation_p.A298D|IMPDH1_ENST00000343214.4_Missense_Mutation_p.A198D|IMPDH1_ENST00000338791.6_Missense_Mutation_p.A308D|IMPDH1_ENST00000378717.4_Missense_Mutation_p.A239D|IMPDH1_ENST00000419067.2_Missense_Mutation_p.A275D|IMPDH1_ENST00000470772.1_Missense_Mutation_p.A222D|IMPDH1_ENST00000348127.6_Missense_Mutation_p.A272D	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						GTCGGTGCGGGCGATGATGGC	0.577											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011kol.1		NA																	0				skin(2)|lung(1)|central_nervous_system(1)	4						c.(667-669)GCC>GAC		inosine monophosphate dehydrogenase 1 isoform e	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						79.0	83.0	81.0					7																	128038619		2203	4300	6503	SO:0001583	missense	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128038619G>T		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.653C>A	7.37:g.128038619G>T	ENSP00000420185:p.Ala218Asp		OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1561	IMPDH1_uc011kom.1_Missense_Mutation_p.A218D|IMPDH1_uc003vmt.2_Missense_Mutation_p.A198D|IMPDH1_uc003vmu.2_Missense_Mutation_p.A308D|IMPDH1_uc003vmw.2_Missense_Mutation_p.A298D|IMPDH1_uc011kon.1_Missense_Mutation_p.A275D|IMPDH1_uc003vmv.2_Missense_Mutation_p.A272D|IMPDH1_uc003vmx.2_Missense_Mutation_p.A231D|IMPDH1_uc003vmy.2_Missense_Mutation_p.A239D	p.A223D	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN			7	774	-			223			CBS 2.			Missense_Mutation	SNP	ENST00000480861.1	37	c.668C>A	CCDS55161.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052867	0.93793	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861;ENST00000497868	D;D;D;D;D;D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21	5.29	5.29	0.74685	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.96842	0.8969	M	0.85945	2.785	0.80722	D	1	D;P;P;D;D;D;D;P	0.67145	0.996;0.931;0.931;0.984;0.991;0.964;0.984;0.915	D;D;D;D;D;P;P;D	0.74674	0.97;0.948;0.93;0.956;0.984;0.667;0.875;0.913	D	0.97434	1.0017	10	0.87932	D	0	-20.5373	16.4619	0.84059	0.0:0.0:1.0:0.0	.	275;218;223;239;298;272;308;198	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	D	275;308;198;298;239;272;198;222;218;239	ENSP00000399400:A275D;ENSP00000345096:A308D;ENSP00000420803:A198D;ENSP00000346219:A298D;ENSP00000367989:A239D;ENSP00000265385:A272D;ENSP00000342438:A198D;ENSP00000417296:A222D;ENSP00000420185:A218D;ENSP00000419609:A239D	ENSP00000345096:A308D	A	-	2	0	IMPDH1	127825855	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.837000	0.99465	2.489000	0.83994	0.655000	0.94253	GCC		0.577	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		34	111	1	0	1.07e-15	1.21e-15	34	111				
CSMD1	64478	broad.mit.edu	37	8	2966226	2966226	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr8:2966226C>T	ENST00000520002.1	-	45	7211	c.6656G>A	c.(6655-6657)gGc>gAc	p.G2219D	CSMD1_ENST00000602723.1_Missense_Mutation_p.G2219D|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2219D|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2218D|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2219D|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2218D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2219	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGCTGTGTTGCCACTGAAAAC	0.498																																						uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(6655-6657)GGC>GAC		CUB and Sushi multiple domains 1 precursor							81.0	79.0	79.0					8																	2966226		1918	4138	6056	SO:0001583	missense	64478					integral to membrane		g.chr8:2966226C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6656G>A	8.37:g.2966226C>T	ENSP00000430733:p.Gly2219Asp					CSMD1_uc011kwj.1_Missense_Mutation_p.G1611D|CSMD1_uc010lrg.2_Missense_Mutation_p.G287D	p.G2219D	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	44	7046	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2219			Extracellular (Potential).|CUB 13.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.6656G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.47|13.47	2.247444|2.247444	0.39697|0.39697	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.64991|.	-0.13;-0.13;-0.13;-0.13|.	4.8|4.8	4.8|4.8	0.61643|0.61643	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76263|.	0.3963|.	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	D;B;D|.	0.89917|.	1.0;0.195;1.0|.	D;B;D|.	0.97110|.	0.999;0.346;1.0|.	T|.	0.77202|.	-0.2674|.	10|.	0.36615|.	T|.	0.2|.	.|.	18.2142|18.2142	0.89880|0.89880	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2219;2219;2218|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	D|X	2219;2219;2080;2218;2218|1698	ENSP00000383047:G2219D;ENSP00000430733:G2219D;ENSP00000441462:G2218D;ENSP00000446243:G2218D|.	ENSP00000320445:G2080D|.	G|W	-|-	2|3	0|0	CSMD1|CSMD1	2953633|2953633	1.000000|1.000000	0.71417|0.71417	0.777000|0.777000	0.31699|0.31699	0.047000|0.047000	0.14425|0.14425	5.683000|5.683000	0.68189|0.68189	2.347000|2.347000	0.79759|0.79759	0.579000|0.579000	0.79373|0.79373	GGC|TGG		0.498	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	12	0	0	0	0	5	12				
MFHAS1	9258	broad.mit.edu	37	8	8749414	8749414	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr8:8749414G>A	ENST00000276282.6	-	1	1741	c.1155C>T	c.(1153-1155)tgC>tgT	p.C385C		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	385										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TCCCCTTCATGCAGACCTCGT	0.617																																					Melanoma(103;1201 2045 17515 28966)	uc003wsj.1		NA																	0					0						c.(1153-1155)TGC>TGT		malignant fibrous histiocytoma amplified							43.0	41.0	41.0					8																	8749414		2200	4299	6499	SO:0001819	synonymous_variant	9258							g.chr8:8749414G>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.1155C>T	8.37:g.8749414G>A							p.C385C	NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	1718	-		Hepatocellular(245;0.217)	385					Q96CI0	Silent	SNP	ENST00000276282.6	37	c.1155C>T	CCDS34844.1																																																																																				0.617	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		22	19	0	0	0	0	22	19				
UBR5	51366	broad.mit.edu	37	8	103281237	103281237	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr8:103281237C>A	ENST00000520539.1	-	51	7936	c.7330G>T	c.(7330-7332)Gag>Tag	p.E2444*	UBR5_ENST00000220959.4_Nonsense_Mutation_p.E2444*|UBR5_ENST00000518205.1_Nonsense_Mutation_p.E173*|UBR5_ENST00000521922.1_Nonsense_Mutation_p.E2438*	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2444	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCCATGGCCTCATCCACTCTT	0.443																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(7330-7332)GAG>TAG		ubiquitin protein ligase E3 component n-recognin							179.0	157.0	164.0					8																	103281237		2203	4300	6503	SO:0001587	stop_gained	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103281237C>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.7330G>T	8.37:g.103281237C>A	ENSP00000429084:p.Glu2444*					UBR5_uc003yks.1_Nonsense_Mutation_p.E2444*|UBR5_uc003ykq.2_5'Flank	p.E2444*	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		51	7363	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2444			PABC.		B2RP24|J3KMW7|O94970|Q9NPL3	Nonsense_Mutation	SNP	ENST00000520539.1	37	c.7330G>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	53	20.097240	0.99927	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.0992	0.97865	0.0:1.0:0.0:0.0	.	.	.	.	X	2444;2444;173;2438	.	ENSP00000220959:E2444X	E	-	1	0	UBR5	103350413	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.762000	0.94881	0.467000	0.42956	GAG		0.443	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		27	117	1	0	3.73e-12	4.17e-12	27	117				
ZNF572	137209	broad.mit.edu	37	8	125989237	125989237	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr8:125989237C>A	ENST00000319286.5	+	3	881	c.727C>A	c.(727-729)Cca>Aca	p.P243T		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGGTGAAAAACCATATGAATG	0.453										HNSCC(60;0.17)																												uc003yrr.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(727-729)CCA>ACA		zinc finger protein 572							67.0	66.0	67.0					8																	125989237		2203	4299	6502	SO:0001583	missense	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125989237C>A	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.727C>A	8.37:g.125989237C>A	ENSP00000319305:p.Pro243Thr	HNSCC(60;0.17)					p.P243T	NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	882	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		243					A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	c.727C>A	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644956	0.67358	.	.	ENSG00000180938	ENST00000319286	T	0.16897	2.31	5.19	5.19	0.71726	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000167	T	0.35278	0.0926	L	0.44542	1.39	0.48236	D	0.999618	D	0.89917	1.0	D	0.91635	0.999	T	0.02925	-1.1093	10	0.87932	D	0	-8.0237	16.2371	0.82381	0.0:1.0:0.0:0.0	.	243	Q7Z3I7	ZN572_HUMAN	T	243	ENSP00000319305:P243T	ENSP00000319305:P243T	P	+	1	0	ZNF572	126058418	0.908000	0.30866	0.210000	0.23637	0.857000	0.48899	3.662000	0.54510	2.698000	0.92095	0.655000	0.94253	CCA		0.453	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		22	90	1	0	1.26e-06	1.35e-06	22	90				
ASAP1	50807	broad.mit.edu	37	8	131130412	131130412	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr8:131130412T>G	ENST00000518721.1	-	20	2102	c.1875A>C	c.(1873-1875)caA>caC	p.Q625H	ASAP1_ENST00000357668.1_Missense_Mutation_p.Q625H	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	625					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GATACCAGTTTTGTACAAGGA	0.428																																						uc003yta.1		NA																	0				ovary(4)	4						c.(1873-1875)CAA>CAC		development and differentiation enhancing factor							71.0	69.0	70.0					8																	131130412		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131130412T>G	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1875A>C	8.37:g.131130412T>G	ENSP00000429900:p.Gln625His					ASAP1_uc003ysz.1_Missense_Mutation_p.Q436H|ASAP1_uc011liw.1_Missense_Mutation_p.Q618H	p.Q625H	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			19	1903	-			625			ANK 1.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.1875A>C	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.29|15.29	2.788617|2.788617	0.49997|0.49997	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124;ENST00000519483|ENST00000343135;ENST00000357668;ENST00000518721	.|T;T	.|0.66460	.|-0.21;-0.21	5.6|5.6	5.6|5.6	0.85130|0.85130	.|Ankyrin repeat-containing domain (4);	.|0.055072	.|0.85682	.|D	.|0.000000	T|T	0.75421|0.75421	0.3847|0.3847	L|L	0.61387|0.61387	1.9|1.9	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B;D	.|0.76494	.|0.433;0.433;0.999	.|B;B;P	.|0.56434	.|0.105;0.105;0.798	T|T	0.78298|0.78298	-0.2258|-0.2258	5|10	.|0.66056	.|D	.|0.02	.|.	14.6273|14.6273	0.68629|0.68629	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|625;625;628	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	Q|H	446;39|628;625;625	.|ENSP00000350297:Q625H;ENSP00000429900:Q625H	.|ENSP00000344591:Q628H	K|Q	-|-	1|3	0|2	ASAP1|ASAP1	131199594|131199594	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.788000|0.788000	0.44548|0.44548	1.956000|1.956000	0.40382|0.40382	2.130000|2.130000	0.65690|0.65690	0.528000|0.528000	0.53228|0.53228	AAA|CAA		0.428	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		34	42	0	0	0	0	34	42				
GPAA1	8733	broad.mit.edu	37	8	145139718	145139718	+	Silent	SNP	C	C	T	rs371058225		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr8:145139718C>T	ENST00000355091.4	+	8	1225	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	GPAA1_ENST00000361036.6_Silent_p.F308F	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	368					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTCCCGCTTCGTCTCCATCG	0.607																																						uc003zax.2		NA																	0					0						c.(1102-1104)TTC>TTT		glycosylphosphatidylinositol anchor attachment		C		0,4014		0,0,2007	104.0	113.0	110.0		1104	1.0	1.0	8		110	1,8363		0,1,4181	no	coding-synonymous	GPAA1	NM_003801.3		0,1,6188	TT,TC,CC		0.012,0.0,0.0081		368/622	145139718	1,12377	2007	4182	6189	SO:0001819	synonymous_variant	8733				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding	g.chr8:145139718C>T	AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.1104C>T	8.37:g.145139718C>T						GPAA1_uc003zav.1_Silent_p.F246F|GPAA1_uc003zaw.1_Silent_p.F308F	p.F368F	NM_003801	NP_003792	O43292	GPAA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		8	1214	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		368			Lumenal (Potential).		Q9NSS0|Q9UQ31	Silent	SNP	ENST00000355091.4	37	c.1104C>T	CCDS43776.1																																																																																				0.607	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801		83	93	0	0	0	0	83	93				
IFNA21	3452	broad.mit.edu	37	9	21166295	21166295	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr9:21166295T>G	ENST00000380225.1	-	1	364	c.317A>C	c.(316-318)gAa>gCa	p.E106A		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	106					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGAAAATTTTTCTAGGAGGCT	0.498																																						uc003zom.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(316-318)GAA>GCA		interferon, alpha 21 precursor							132.0	139.0	137.0					9																	21166295		2203	4300	6503	SO:0001583	missense	3452				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21166295T>G		CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"""Interferons"""	5424	protein-coding gene	gene with protein product	"""leukocyte interferon protein"""	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.317A>C	9.37:g.21166295T>G	ENSP00000369574:p.Glu106Ala						p.E106A	NM_002175	NP_002166	P01568	IFN21_HUMAN		GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	365	-			106					Q14608|Q5VWD1|Q7M4Q4	Missense_Mutation	SNP	ENST00000380225.1	37	c.317A>C	CCDS6497.1	.	.	.	.	.	.	.	.	.	.	N	10.49	1.363469	0.24684	.	.	ENSG00000137080	ENST00000380225	T	0.08193	3.12	4.02	2.79	0.32731	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.554721	0.19168	N	0.121007	T	0.10637	0.0260	M	0.77486	2.375	0.09310	N	1	B	0.12630	0.006	B	0.19946	0.027	T	0.25676	-1.0125	10	0.87932	D	0	.	2.9188	0.05762	0.2345:0.1206:0.0:0.6449	.	106	P01568	IFN21_HUMAN	A	106	ENSP00000369574:E106A	ENSP00000369574:E106A	E	-	2	0	IFNA21	21156295	0.000000	0.05858	0.068000	0.19968	0.009000	0.06853	-0.446000	0.06837	1.692000	0.51112	0.524000	0.50904	GAA		0.498	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175		45	178	0	0	0	0	45	178				
GOLGA1	2800	broad.mit.edu	37	9	127650555	127650556	+	Nonsense_Mutation	DNP	GC	GC	AA			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr9:127650555_127650556GC>AA	ENST00000373555.4	-	19	2214_2215	c.1881_1882GC>TT	c.(1879-1884)gaGCag>gaTTag	p.627_628EQ>D*	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	627					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AGAAGTTGCTGCTCCAAGTCCT	0.515																																						uc004bpc.2		NA																	0				ovary(1)	1						c.(1879-1884)GAGCAG>GATTAG		golgin 97																																				SO:0001587	stop_gained	2800					Golgi cisterna membrane		g.chr9:127650555_127650556GC>AA	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1881_1882delinsAA	9.37:g.127650555_127650556delinsAA	ENSP00000362656:p.E627_Q628delinsD*					GOLGA1_uc010mws.2_RNA	p.627_628EQ>D*	NM_002077	NP_002068	Q92805	GOGA1_HUMAN			19	2223_2224	-			627_628			Potential.		Q5T164|Q8IYZ9	Nonsense_Mutation	DNP	ENST00000373555.4	37	c.1881_1882GC>TT	CCDS6860.1																																																																																				0.515	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		42	251	0	0	0	0	42	251				
TEX13A	56157	broad.mit.edu	37	X	104464900	104464900	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chrX:104464900C>T	ENST00000413579.1	-	2	293	c.182G>A	c.(181-183)aGt>aAt	p.S61N	IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.S61N|TEX13A_ENST00000372575.1_Missense_Mutation_p.S61N			Q9BXU3	TX13A_HUMAN	testis expressed 13A	61							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TTTGACCTCACTGGGCACCTC	0.592																																						uc004ema.2		NA																	0				ovary(2)	2						c.(181-183)AGT>AAT		testis expressed sequence 13A							53.0	49.0	50.0					X																	104464900		2203	4300	6503	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464900C>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.182G>A	X.37:g.104464900C>T	ENSP00000399753:p.Ser61Asn					IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.S61N	p.S61N	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN			2	294	-			61					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.182G>A		.	.	.	.	.	.	.	.	.	.	C	0.989	-0.694713	0.03303	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	3.11	0.0654	0.14356	.	0.601209	0.13894	N	0.355423	T	0.17109	0.0411	.	.	.	0.09310	N	1	B;B	0.31837	0.192;0.342	B;B	0.28991	0.097;0.092	T	0.13361	-1.0512	8	0.28530	T	0.3	.	1.1833	0.01849	0.2285:0.4082:0.2205:0.1429	.	61;61	C9JWK0;Q9BXU3	.;TX13A_HUMAN	N	61	.	ENSP00000361656:S61N	S	-	2	0	TEX13A	104351556	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.377000	0.07456	-0.094000	0.12374	0.506000	0.49869	AGT		0.592	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		15	20	0	0	0	0	15	20				
TRPC5	7224	broad.mit.edu	37	X	111195420	111195420	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chrX:111195420C>A	ENST00000262839.2	-	2	1147	c.229G>T	c.(229-231)Gcc>Tcc	p.A77S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	77					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCTCAATGGCAATGAGCAGG	0.527																																						uc004epl.1		NA																	0				urinary_tract(1)	1						c.(229-231)GCC>TCC		transient receptor potential cation channel,							157.0	127.0	137.0					X																	111195420		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111195420C>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.229G>T	X.37:g.111195420C>A	ENSP00000262839:p.Ala77Ser					TRPC5_uc004epm.1_Missense_Mutation_p.A77S	p.A77S	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			2	1148	-			77			ANK 2.|Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.229G>T	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121280	0.94385	.	.	ENSG00000072315	ENST00000262839	T	0.71341	-0.56	5.6	5.6	0.85130	Ankyrin repeat-containing domain (3);	0.101756	0.64402	D	0.000003	D	0.86855	0.6033	M	0.88377	2.95	0.80722	D	1	D;D	0.76494	0.985;0.999	D;D	0.74023	0.926;0.982	D	0.88493	0.3077	10	0.54805	T	0.06	-13.6027	18.6162	0.91303	0.0:1.0:0.0:0.0	.	78;77	Q59G51;Q9UL62	.;TRPC5_HUMAN	S	77	ENSP00000262839:A77S	ENSP00000262839:A77S	A	-	1	0	TRPC5	111082076	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.339000	0.79563	0.513000	0.50165	GCC		0.527	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		26	39	1	0	2.85e-18	3.25e-18	26	39				
ADAM30	11085	broad.mit.edu	37	1	120436723	120436723	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:120436723delG	ENST00000369400.1	-	1	2395	c.2237delC	c.(2236-2238)acafs	p.T746fs		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	746	5 X 9 AA approximate repeats.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TCCAGTTTTTGTTTTAGATTC	0.353																																						uc001eij.2		NA																	0				ovary(2)|lung(1)	3						c.(2236-2238)ACAfs		ADAM metallopeptidase domain 30 preproprotein							230.0	240.0	237.0					1																	120436723		2203	4300	6503	SO:0001589	frameshift_variant	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120436723delG	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.2237delC	1.37:g.120436723delG	ENSP00000358407:p.Thr746fs						p.T746fs	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	2391	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	746			2.|5 X 9 AA approximate repeats.|Cytoplasmic (Potential).		A8K8W8|Q5T3X6|Q9UKF1	Frame_Shift_Del	DEL	ENST00000369400.1	37	c.2237delC	CCDS907.1																																																																																				0.353	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		7	304	NA	NA	NA	NA	7	304	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201042688	201042688	+	Frame_Shift_Del	DEL	T	T	-	rs397843806		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:201042688delT	ENST00000362061.3	-	15	2372	c.2146delA	c.(2146-2148)accfs	p.T717fs	CACNA1S_ENST00000367338.3_Frame_Shift_Del_p.T717fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	717					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGGCAGTGGTGGGGATGCCC	0.552																																						uc001gvv.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2146-2148)ACCfs		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						368.0	357.0	360.0					1																	201042688		2203	4300	6503	SO:0001589	frameshift_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201042688delT	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2146delA	1.37:g.201042688delT	ENSP00000355192:p.Thr717fs						p.T716fs	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			15	2373	-			716			Cytoplasmic (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Frame_Shift_Del	DEL	ENST00000362061.3	37	c.2146delA	CCDS1407.1																																																																																				0.552	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		7	608	NA	NA	NA	NA	7	608	---	---	---	---
CAMKK2	10645	broad.mit.edu	37	12	121682412	121682412	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:121682412delT	ENST00000324774.5	-	16	2388	c.1560delA	c.(1558-1560)aaafs	p.K520fs	CAMKK2_ENST00000545538.1_Frame_Shift_Del_p.K307fs|CAMKK2_ENST00000446440.2_Frame_Shift_Del_p.K477fs|CAMKK2_ENST00000538733.1_Intron|CAMKK2_ENST00000392473.2_Frame_Shift_Del_p.K520fs|CAMKK2_ENST00000337174.3_Intron|CAMKK2_ENST00000404169.3_Frame_Shift_Del_p.K520fs|CAMKK2_ENST00000347034.2_Frame_Shift_Del_p.K477fs|CAMKK2_ENST00000402834.4_Frame_Shift_Del_p.K520fs|CAMKK2_ENST00000392474.2_Frame_Shift_Del_p.K520fs|CAMKK2_ENST00000412367.2_Intron	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	520					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCCTGGTTGGTTTTTTGCTGG	0.627																																						uc001tzu.2		NA																	0				lung(1)|large_intestine(1)|stomach(1)	3						c.(1558-1560)AAAfs		calcium/calmodulin-dependent protein kinase							105.0	75.0	85.0					12																	121682412		2194	4283	6477	SO:0001589	frameshift_variant	10645				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	g.chr12:121682412delT	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.1560delA	12.37:g.121682412delT	ENSP00000312741:p.Lys520fs					CAMKK2_uc001tzt.2_Intron|CAMKK2_uc001tzv.2_Frame_Shift_Del_p.K520fs|CAMKK2_uc001tzw.2_Frame_Shift_Del_p.K477fs|CAMKK2_uc001tzx.2_Intron|CAMKK2_uc001tzy.2_Intron|CAMKK2_uc001tzz.1_Frame_Shift_Del_p.K307fs|CAMKK2_uc001uaa.1_Frame_Shift_Del_p.K520fs|CAMKK2_uc001uab.2_Frame_Shift_Del_p.K520fs|CAMKK2_uc001uac.2_Frame_Shift_Del_p.K477fs	p.K520fs	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN			16	1684	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		520					A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Frame_Shift_Del	DEL	ENST00000324774.5	37	c.1560delA	CCDS9216.1																																																																																				0.627	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		2	4	NA	NA	NA	NA	2	4	---	---	---	---
ZIC2	7546	broad.mit.edu	37	13	100635008	100635010	+	In_Frame_Del	DEL	CCA	CCA	-	rs375069774		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr13:100635008_100635010delCCA	ENST00000376335.3	+	1	983_985	c.690_692delCCA	c.(688-693)gcccac>gcc	p.H239del		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	239	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.|Poly-His.		H -> HH. {ECO:0000269|PubMed:15221788}.|Missing. {ECO:0000269|PubMed:15221788}.		brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCCGCGGCccaccaccaccac	0.621																																					Pancreas(97;119 1522 31925 44771 48764)	uc001von.2		NA																	0					0						c.(688-693)GCCCAC>GCC		zinc finger protein of the cerebellum 2																																				SO:0001651	inframe_deletion	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635008_100635010delCCA	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.690_692delCCA	13.37:g.100635017_100635019delCCA	ENSP00000365514:p.His239del						p.H239del	NM_007129	NP_009060	O95409	ZIC2_HUMAN			1	690_692	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		239		Missing.|H -> HH.	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-His.		Q5VYA9|Q9H309	In_Frame_Del	DEL	ENST00000376335.3	37	c.690_692delCCA	CCDS9495.1																																																																																				0.621	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		7	63	NA	NA	NA	NA	7	63	---	---	---	---
RFX7	64864	broad.mit.edu	37	15	56387585	56387586	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr15:56387585_56387586insA	ENST00000559447.2	-	9	2320_2321	c.2049_2050insT	c.(2047-2052)aatggafs	p.G684fs	RFX7_ENST00000317318.6_Frame_Shift_Ins_p.G781fs|RFX7_ENST00000423270.1_Frame_Shift_Ins_p.G781fs|RFX7_ENST00000422057.1_Frame_Shift_Ins_p.G684fs			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	684					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGTTGCCATCCATTTGGATTAA	0.371																																						uc010bfn.2		NA																	0					0						c.(2338-2343)AATGGAfs		regulatory factor X domain containing 2																																				SO:0001589	frameshift_variant	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56387585_56387586insA			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2050dupT	15.37:g.56387586_56387586dupA	ENSP00000453281:p.Gly684fs					RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Frame_Shift_Ins_p.N594fs	p.N780fs	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN			9	2340_2341	-			683_684					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Frame_Shift_Ins	INS	ENST00000559447.2	37	c.2340_2341insT																																																																																					0.371	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		28	81	NA	NA	NA	NA	28	81	---	---	---	---
MBTPS1	8720	broad.mit.edu	37	16	84115471	84115472	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:84115471_84115472insT	ENST00000343411.3	-	11	1823_1824	c.1328_1329insA	c.(1327-1329)aagfs	p.K443fs	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	443	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCAGGGCCTGCTTCATACTGGC	0.525																																						uc002fhi.2		NA																	0				ovary(2)	2						c.(1327-1329)AAGfs		membrane-bound transcription factor site-1																																				SO:0001589	frameshift_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84115471_84115472insT	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1329dupA	16.37:g.84115473_84115473dupT	ENSP00000344223:p.Lys443fs						p.K443fs	NM_003791	NP_003782	Q14703	MBTP1_HUMAN			11	1830_1831	-			443			Lumenal (Potential).		A8K6V8|Q24JQ2|Q9UF67	Frame_Shift_Ins	INS	ENST00000343411.3	37	c.1328_1329insA	CCDS10941.1																																																																																				0.525	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		21	49	NA	NA	NA	NA	21	49	---	---	---	---
XDH	7498	broad.mit.edu	37	2	31562418	31562418	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:31562418delG	ENST00000379416.3	-	34	3759	c.3711delC	c.(3709-3711)cccfs	p.P1237fs		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1237					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TGAACTCAATGGGGATGCTGC	0.577																																					Colon(66;682 1445 30109 40147)	uc002rnv.1		NA																	0				skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(3709-3711)CCCfs		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						139.0	131.0	134.0					2																	31562418		2203	4300	6503	SO:0001589	frameshift_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31562418delG	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3711delC	2.37:g.31562418delG	ENSP00000368727:p.Pro1237fs						p.P1237fs	NM_000379	NP_000370	P47989	XDH_HUMAN			34	3790	-	Acute lymphoblastic leukemia(172;0.155)		1237					Q16681|Q16712|Q4PJ16	Frame_Shift_Del	DEL	ENST00000379416.3	37	c.3711delC	CCDS1775.1																																																																																				0.577	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		46	164	NA	NA	NA	NA	46	164	---	---	---	---
PCDHGA9	56107	broad.mit.edu	37	5	140783917	140783918	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:140783917_140783918delCA	ENST00000573521.1	+	1	1398_1399	c.1398_1399delCA	c.(1396-1401)gccagafs	p.R467fs	PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	467	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAACAACGCCAGAGGTACTTC	0.47																																						uc003lkh.1		NA																	0					0						c.(1396-1401)GCCAGAfs		protocadherin gamma subfamily A, 9 isoform 1																																				SO:0001589	frameshift_variant	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140783917_140783918delCA	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1398_1399delCA	5.37:g.140783917_140783918delCA	ENSP00000460274:p.Arg467fs					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Frame_Shift_Del_p.A466fs	p.A466fs	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1398_1399	+			466_467			Extracellular (Potential).|Cadherin 5.		A2RU65|Q9Y5C9	Frame_Shift_Del	DEL	ENST00000573521.1	37	c.1398_1399delCA	CCDS58981.1																																																																																				0.470	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		17	110	NA	NA	NA	NA	17	110	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128454860	128454861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:128454860_128454861insC	ENST00000297788.4	+	15	3299_3300	c.2932_2933insC	c.(2932-2934)gccfs	p.A978fs	CCDC136_ENST00000471729.1_3'UTR|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	978						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TGTCAAAGAAGCCCGGGGGAAG	0.54																																						uc003vnv.1		NA																	0				ovary(2)	2						c.(2932-2934)GCCfs		coiled-coil domain containing 136			,	0,3588		0,0,1794					,	-3.7	0.0			40	1,7863		0,1,3931	no	frameshift,intron	CCDC136	NM_022742.4,NM_001201372.1	,	0,1,5725	A1A1,A1R,RR		0.0127,0.0,0.0087	,	,		1,11451				SO:0001589	frameshift_variant	64753					integral to membrane	protein binding	g.chr7:128454860_128454861insC		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2935dupC	7.37:g.128454863_128454863dupC	ENSP00000297788:p.Ala978fs					CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Frame_Shift_Ins_p.A794fs|CCDC136_uc010llq.1_Frame_Shift_Ins_p.A347fs|CCDC136_uc003vny.1_Intron	p.A978fs	NM_022742	NP_073579	Q96JN2	CC136_HUMAN			15	3299_3300	+			978					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Frame_Shift_Ins	INS	ENST00000297788.4	37	c.2932_2933insC	CCDS47704.1																																																																																				0.540	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		6	13	NA	NA	NA	NA	6	13	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53587364	53587365	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chrX:53587364_53587365insG	ENST00000342160.3	-	55	7977_7978	c.7520_7521insC	c.(7519-7521)ccafs	p.P2507fs	HUWE1_ENST00000262854.6_Frame_Shift_Ins_p.P2507fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2507					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						TTCCTGGGGATGGGGGGATGTC	0.495																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(7519-7521)CCAfs		HECT, UBA and WWE domain containing 1																																				SO:0001589	frameshift_variant	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:53587364_53587365insG	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.7521dupC	X.37:g.53587370_53587370dupG	ENSP00000340648:p.Pro2507fs					HUWE1_uc004dsn.2_Frame_Shift_Ins_p.P1331fs	p.P2507fs	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			56	7922_7923	-			2507					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Frame_Shift_Ins	INS	ENST00000342160.3	37	c.7520_7521insC	CCDS35301.1																																																																																				0.495	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		21	18	NA	NA	NA	NA	21	18	---	---	---	---
