#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
NOL9	79707	broad.mit.edu	37	1	6585956	6585956	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:6585956C>T	ENST00000377705.5	-	12	2099	c.2067G>A	c.(2065-2067)gaG>gaA	p.E689E		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	689					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GGTATGGTTTCTCTTTATGTG	0.413																																						uc001ans.2		NaN																	0				skin(1)	1						c.(2065-2067)GAG>GAA		nucleolar protein 9							198.0	192.0	194.0					1																	6585956		2203	4300	6503	SO:0001819	synonymous_variant	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6585956C>T	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.2067G>A	1.37:g.6585956C>T						NOL9_uc010nzs.1_RNA	p.E689E	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	12	2086	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	689					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Silent	SNP	ENST00000377705.5	37	c.2067G>A	CCDS80.1																																																																																				0.413	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1		NM_024654		8	81	0	0	0	0.006214	0	8	81		
DMRTB1	63948	broad.mit.edu	37	1	53927213	53927213	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:53927213C>A	ENST00000371445.3	+	2	700	c.645C>A	c.(643-645)caC>caA	p.H215Q	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	215	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CCAGCATGCACCCCTACTGCC	0.647																																						uc001cvq.1		NaN																	0				ovary(1)|skin(1)	2						c.(643-645)CAC>CAA		DMRT-like family B with proline-rich C-terminal,							105.0	88.0	94.0					1																	53927213		2203	4300	6503	SO:0001583	missense	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53927213C>A	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.645C>A	1.37:g.53927213C>A	ENSP00000360500:p.His215Gln						p.H215Q	NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN			2	700	+			215			Pro-rich.		Q96SD2	Missense_Mutation	SNP	ENST00000371445.3	37	c.645C>A	CCDS581.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923190	0.33908	.	.	ENSG00000143006	ENST00000371445;ENST00000431335	.	.	.	4.74	-3.87	0.04218	.	1.449290	0.04315	N	0.349713	T	0.35158	0.0922	L	0.54323	1.7	0.09310	N	1	P	0.35011	0.48	B	0.33339	0.162	T	0.38045	-0.9679	9	0.66056	D	0.02	-6.4149	5.7375	0.18075	0.1399:0.3282:0.0:0.532	.	215	Q96MA1	DMRTB_HUMAN	Q	215;62	.	ENSP00000360500:H215Q	H	+	3	2	DMRTB1	53699801	0.000000	0.05858	0.000000	0.03702	0.787000	0.44495	-0.356000	0.07661	-0.906000	0.03866	-0.150000	0.13652	CAC		0.647	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1				16	146	1	0	1.15088e-07	0.028581	1.29369e-07	16	146		
ACOT11	26027	broad.mit.edu	37	1	55060253	55060253	+	Missense_Mutation	SNP	C	C	T	rs368123410		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:55060253C>T	ENST00000371316.3	+	6	578	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.R166W	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	166					fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GATCACGCCGCGGACAGAAGA	0.627																																					Ovarian(148;1440 1861 22015 32453 51933)	uc001cxm.1		NaN																	0				central_nervous_system(1)	1						c.(496-498)CGG>TGG		thioesterase, adipose associated isoform BFIT1		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	44.0	42.0	43.0		496,496	1.9	0.0	1		43	0,8600		0,0,4300	no	missense,missense	ACOT11	NM_015547.3,NM_147161.3	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	166/608,166/595	55060253	1,13005	2203	4300	6503	SO:0001583	missense	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55060253C>T	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.496C>T	1.37:g.55060253C>T	ENSP00000360366:p.Arg166Trp					ACOT11_uc001cxj.1_Missense_Mutation_p.R44W|ACOT11_uc001cxk.2_Missense_Mutation_p.R132W|ACOT11_uc001cxl.1_Missense_Mutation_p.R166W	p.R166W	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN			6	578	+			166					B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.496C>T	CCDS592.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655279	0.47467	2.27E-4	0.0	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.43688	0.94;0.94	4.93	1.88	0.25563	.	0.802457	0.11900	N	0.518734	T	0.36193	0.0958	L	0.29908	0.895	0.09310	N	1	D;D	0.65815	0.995;0.987	P;P	0.51229	0.586;0.663	T	0.17379	-1.0371	10	0.72032	D	0.01	-19.0339	4.1541	0.10252	0.2899:0.4927:0.1404:0.0771	.	166;166	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	W	166	ENSP00000340260:R166W;ENSP00000360366:R166W	ENSP00000340260:R166W	R	+	1	2	ACOT11	54832841	0.000000	0.05858	0.003000	0.11579	0.475000	0.33008	0.433000	0.21477	0.169000	0.19679	0.561000	0.74099	CGG		0.627	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1		NM_015547		4	44	0	0	0	0.014758	0	4	44		
TRIM46	80128	broad.mit.edu	37	1	155154564	155154564	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:155154564G>A	ENST00000334634.4	+	9	1825	c.1825G>A	c.(1825-1827)Gtc>Atc	p.V609I	TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.V609I|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000368382.1_Missense_Mutation_p.V586I|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000545012.1_Missense_Mutation_p.V483I	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	609	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAAGGTGGGCGTCGGGCTGGA	0.647																																						uc001fhs.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1825-1827)GTC>ATC		tripartite motif-containing 46							32.0	32.0	32.0					1																	155154564		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155154564G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1825G>A	1.37:g.155154564G>A	ENSP00000334657:p.Val609Ile					RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.V483I|TRIM46_uc001fhu.1_Missense_Mutation_p.V586I|TRIM46_uc009wpg.1_Missense_Mutation_p.V596I|TRIM46_uc001fhw.1_RNA	p.V609I	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		9	1908	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		609			B30.2/SPRY.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.1825G>A	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027825	0.75390	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T	0.71817	-0.6;1.67;-0.6;-0.6	4.06	4.06	0.47325	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000001	T	0.75177	0.3814	M	0.70595	2.14	0.44234	D	0.997073	D;D	0.67145	0.996;0.996	P;P	0.61533	0.89;0.89	T	0.75323	-0.3358	10	0.40728	T	0.16	.	14.1186	0.65172	0.0:0.0:1.0:0.0	.	609;609	Q5VT61;Q7Z4K8	.;TRI46_HUMAN	I	567;483;609;586;609	ENSP00000440254:V483I;ENSP00000357367:V609I;ENSP00000357366:V586I;ENSP00000334657:V609I	ENSP00000334657:V609I	V	+	1	0	TRIM46	153421188	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.137000	0.89612	2.285000	0.76669	0.561000	0.74099	GTC		0.647	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1		NM_025058		14	37	0	0	0	0.020292	0	14	37		
NR1I3	9970	broad.mit.edu	37	1	161200969	161200969	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:161200969C>T	ENST00000367982.4	-	7	916	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	NR1I3_ENST00000506209.1_Missense_Mutation_p.R221Q|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000367980.2_Missense_Mutation_p.R254Q|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000437437.2_Missense_Mutation_p.R221Q|NR1I3_ENST00000367984.4_Intron|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000367979.2_Missense_Mutation_p.R254Q|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Missense_Mutation_p.R221Q|NR1I3_ENST00000442691.2_Missense_Mutation_p.R254Q|NR1I3_ENST00000412844.2_Missense_Mutation_p.R225Q|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000515452.1_3'UTR|NR1I3_ENST00000367985.3_Intron|NR1I3_ENST00000367981.3_Missense_Mutation_p.R221Q|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000515621.1_Missense_Mutation_p.R175Q|NR1I3_ENST00000511676.1_Missense_Mutation_p.R221Q|NR1I3_ENST00000367983.4_Missense_Mutation_p.R250Q|NR1I3_ENST00000428574.2_Missense_Mutation_p.R250Q|NR1I3_ENST00000505005.1_Intron			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	254					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTGCAGTTTTCGTAGTGTTCC	0.532																																						uc001fzx.2		NaN																	0				ovary(1)|skin(1)	2						c.(760-762)CGA>CAA		constitutive androstane receptor isoform 2							62.0	63.0	63.0					1																	161200969		2203	4300	6503	SO:0001583	missense	9970				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161200969C>T	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.761G>A	1.37:g.161200969C>T	ENSP00000356961:p.Arg254Gln					TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.R250Q|NR1I3_uc001fzg.2_Missense_Mutation_p.R221Q|NR1I3_uc001fzh.2_Missense_Mutation_p.R221Q|NR1I3_uc001fzi.2_Missense_Mutation_p.R221Q|NR1I3_uc001fzj.2_Missense_Mutation_p.R221Q|NR1I3_uc001fzk.2_Intron|NR1I3_uc001fzl.2_Intron|NR1I3_uc001fzm.2_Missense_Mutation_p.R175Q|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_Missense_Mutation_p.R83Q|NR1I3_uc001fzp.2_Missense_Mutation_p.R254Q|NR1I3_uc001fzo.2_Missense_Mutation_p.R83Q|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.R254Q|NR1I3_uc001fzy.2_Missense_Mutation_p.R250Q|NR1I3_uc001fzz.2_Intron|NR1I3_uc001gaa.2_Intron|NR1I3_uc001gab.2_Intron|NR1I3_uc001gac.2_Missense_Mutation_p.R225Q|NR1I3_uc010pkm.1_Missense_Mutation_p.R221Q|NR1I3_uc010pkn.1_3'UTR	p.R254Q	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	964	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		254					E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP	ENST00000367982.4	37	c.761G>A	CCDS41430.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451738	0.63290	.	.	ENSG00000143257	ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000508740;ENST00000367982;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367979;ENST00000506209	D;D;D;D;D;D;D;D;D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08	5.56	2.68	0.31781	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.194178	0.42548	D	0.000697	D	0.94042	0.8091	L	0.56199	1.76	0.34922	D	0.748500	D;D;P;D;D;P;D;D;D;D;D;D	0.71674	0.995;0.995;0.789;0.983;0.995;0.882;0.996;0.983;0.979;0.996;0.998;0.995	P;P;B;P;P;B;P;P;B;P;P;P	0.56042	0.682;0.491;0.215;0.592;0.468;0.215;0.79;0.592;0.286;0.48;0.577;0.468	D	0.91668	0.5348	9	0.42905	T	0.14	.	9.0699	0.36486	0.0:0.768:0.0:0.232	.	221;225;250;254;254;254;175;221;221;221;221;250	E9PCF2;E9PHN4;F1D8Q1;Q14994;E9PC13;Q4U0F0;D6REZ7;Q6GZ68;E9PH10;Q6GZ84;E9PGH6;E9PB75	.;.;.;NR1I3_HUMAN;.;.;.;.;.;.;.;.	Q	250;254;221;254;225;250;221;254;221;221;175;254;221	ENSP00000356962:R250Q;ENSP00000356959:R254Q;ENSP00000407446:R221Q;ENSP00000406493:R254Q;ENSP00000399361:R225Q;ENSP00000412672:R250Q;ENSP00000423666:R221Q;ENSP00000356961:R254Q;ENSP00000427175:R221Q;ENSP00000356960:R221Q;ENSP00000421588:R175Q;ENSP00000356958:R254Q;ENSP00000423089:R221Q	ENSP00000356958:R254Q	R	-	2	0	NR1I3	159467593	0.005000	0.15991	0.000000	0.03702	0.512000	0.34134	1.205000	0.32308	0.300000	0.22699	0.561000	0.74099	CGA		0.532	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2				17	29	0	0	0	0.006122	0	17	29		
PRRC2C	23215	broad.mit.edu	37	1	171484973	171484973	+	Silent	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:171484973A>G	ENST00000338920.4	+	5	732	c.495A>G	c.(493-495)ggA>ggG	p.G165G	PRRC2C_ENST00000392078.3_Silent_p.G167G|PRRC2C_ENST00000367742.3_Silent_p.G167G|PRRC2C_ENST00000426496.2_Silent_p.G165G|PRRC2C_ENST00000476522.1_3'UTR	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	165					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										ACAACTATGGACCTGGACCCA	0.398																																						uc010pmg.1		NaN																	0					0						c.(493-495)GGA>GGG		HBxAg transactivated protein 2							107.0	104.0	105.0					1																	171484973		2203	4300	6503	SO:0001819	synonymous_variant	23215						protein C-terminus binding	g.chr1:171484973A>G	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.495A>G	1.37:g.171484973A>G						BAT2L2_uc001ghq.1_Silent_p.G162G|BAT2L2_uc001ghr.1_Silent_p.G167G	p.G165G	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			5	761	+			165					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	c.495A>G	CCDS1296.2																																																																																				0.398	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4		NM_015172		8	42	0	0	0	0.006214	0	8	42		
HMCN1	83872	broad.mit.edu	37	1	185953314	185953314	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:185953314C>T	ENST00000271588.4	+	19	3033	c.2804C>T	c.(2803-2805)cCt>cTt	p.P935L	HMCN1_ENST00000367492.2_Missense_Mutation_p.P935L|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	935	Ig-like C2-type 6.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTCCAAAATCCTTACATCACT	0.383																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(2803-2805)CCT>CTT		hemicentin 1 precursor							117.0	115.0	116.0					1																	185953314		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185953314C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2804C>T	1.37:g.185953314C>T	ENSP00000271588:p.Pro935Leu					HMCN1_uc001grr.1_Missense_Mutation_p.P276L	p.P935L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			19	3033	+			935			Ig-like C2-type 6.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.2804C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542198	0.45280	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.41065	1.01;1.01	5.81	5.81	0.92471	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.107337	0.64402	D	0.000005	T	0.53932	0.1827	L	0.28054	0.825	0.80722	D	1	D;D	0.71674	0.991;0.998	D;D	0.83275	0.948;0.996	T	0.46034	-0.9220	10	0.31617	T	0.26	.	20.0621	0.97678	0.0:1.0:0.0:0.0	.	319;935	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	L	935	ENSP00000271588:P935L;ENSP00000356462:P935L	ENSP00000271588:P935L	P	+	2	0	HMCN1	184219937	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.128000	0.64733	2.750000	0.94351	0.655000	0.94253	CCT		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		10	49	0	0	0	0.006214	0	10	49		
GPR37L1	9283	broad.mit.edu	37	1	202097242	202097242	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:202097242T>G	ENST00000367282.5	+	2	1110	c.1004T>G	c.(1003-1005)gTg>gGg	p.V335G		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	335					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						ACATGGCGGGTGCGAGGCCCT	0.617																																						uc001gxj.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1003-1005)GTG>GGG		G-protein coupled receptor 37 like 1 precursor							68.0	62.0	64.0					1																	202097242		2203	4300	6503	SO:0001583	missense	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202097242T>G	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.1004T>G	1.37:g.202097242T>G	ENSP00000356251:p.Val335Gly						p.V335G	NM_004767	NP_004758	O60883	ETBR2_HUMAN			2	1067	+			335			Cytoplasmic (Potential).		B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	ENST00000367282.5	37	c.1004T>G	CCDS1420.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224951	0.79576	.	.	ENSG00000170075	ENST00000541334;ENST00000367282	T	0.38560	1.13	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.563150	0.18437	N	0.141248	T	0.50120	0.1597	L	0.60455	1.87	0.80722	D	1	P	0.46327	0.876	P	0.50896	0.653	T	0.39014	-0.9634	10	0.22109	T	0.4	-30.1028	15.0377	0.71761	0.0:0.0:0.0:1.0	.	335	O60883	ETBR2_HUMAN	G	202;335	ENSP00000356251:V335G	ENSP00000356251:V335G	V	+	2	0	GPR37L1	200363865	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	5.759000	0.68785	1.973000	0.57446	0.459000	0.35465	GTG		0.617	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2		NM_004767		7	70	0	0	0	0.016522	0	7	70		
KCNH1	3756	broad.mit.edu	37	1	210856624	210856624	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:210856624C>T	ENST00000271751.4	-	11	2996	c.2969G>A	c.(2968-2970)tGa>tAa	p.*990*	KCNH1_ENST00000367007.4_Silent_p.*963*			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	0					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ATAGACCTCTCAGCTGGCTCC	0.443																																						uc001hib.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(2968-2970)TGA>TAA		potassium voltage-gated channel, subfamily H,							100.0	117.0	111.0					1																	210856624		2203	4300	6503	SO:0001819	synonymous_variant	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210856624C>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2969G>A	1.37:g.210856624C>T						KCNH1_uc001hic.2_Silent_p.*963*	p.*990*	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	11	3139	-			990					B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	c.2969G>A	CCDS1496.1																																																																																				0.443	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1		NM_002238		10	177	0	0	0	0.010729	0	10	177		
FAM71A	149647	broad.mit.edu	37	1	212798487	212798487	+	Nonsense_Mutation	SNP	C	C	T	rs141642686	byFrequency	TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:212798487C>T	ENST00000294829.3	+	1	699	c.268C>T	c.(268-270)Cga>Tga	p.R90*	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	90						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)		GCTACTGGCACGACCGGCCAC	0.567													C|||	8	0.00159744	0.0061	0.0	5008	,	,		19467	0.0		0.0	False		,,,				2504	0.0					uc001hjk.2		NaN																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(268-270)CGA>TGA		hypothetical protein LOC149647		C	stop/ARG	16,4390	23.3+/-48.9	0,16,2187	85.0	73.0	77.0		268	3.6	0.4	1	dbSNP_134	77	0,8600		0,0,4300	yes	stop-gained	FAM71A	NM_153606.3		0,16,6487	TT,TC,CC		0.0,0.3631,0.123		90/595	212798487	16,12990	2203	4300	6503	SO:0001587	stop_gained	149647							g.chr1:212798487C>T		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.268C>T	1.37:g.212798487C>T	ENSP00000294829:p.Arg90*					uc010pth.1_Intron	p.R90*	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	672	+			90					Q5VTZ1	Nonsense_Mutation	SNP	ENST00000294829.3	37	c.268C>T	CCDS1507.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	34	5.400622	0.96030	0.003631	0.0	ENSG00000162771	ENST00000294829	.	.	.	4.53	3.62	0.41486	.	0.260900	0.26373	N	0.024753	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8271	10.2756	0.43507	0.1972:0.8028:0.0:0.0	.	.	.	.	X	90	.	ENSP00000294829:R90X	R	+	1	2	FAM71A	210865110	0.954000	0.32549	0.408000	0.26446	0.003000	0.03518	2.217000	0.42880	1.286000	0.44565	-0.225000	0.12378	CGA		0.567	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1		NM_153606		8	72	0	0	0	0.00308	0	8	72		
HHIPL2	79802	broad.mit.edu	37	1	222713516	222713516	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:222713516C>T	ENST00000343410.6	-	4	1344	c.1286G>A	c.(1285-1287)gGg>gAg	p.G429E		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	429					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GATGGGGTCCCCTCGGTCCAC	0.577																																						uc001hnh.1		NaN																	0				ovary(1)	1						c.(1285-1287)GGG>GAG		HHIP-like 2 precursor							72.0	71.0	71.0					1																	222713516		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222713516C>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1286G>A	1.37:g.222713516C>T	ENSP00000342118:p.Gly429Glu						p.G429E	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	4	1344	-			429					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.1286G>A	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846553	0.71603	.	.	ENSG00000143512	ENST00000343410	T	0.14144	2.53	5.52	5.52	0.82312	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	L	0.42744	1.35	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.00780	-1.1569	10	0.24483	T	0.36	-22.4455	19.0326	0.92963	0.0:1.0:0.0:0.0	.	429	Q6UWX4	HIPL2_HUMAN	E	429	ENSP00000342118:G429E	ENSP00000342118:G429E	G	-	2	0	HHIPL2	220780139	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	7.296000	0.78790	2.571000	0.86741	0.591000	0.81541	GGG		0.577	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2		NM_024746		7	94	0	0	0	0.02938	0	7	94		
RYR2	6262	broad.mit.edu	37	1	237787085	237787085	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:237787085T>G	ENST00000366574.2	+	39	6254	c.5937T>G	c.(5935-5937)ttT>ttG	p.F1979L	RYR2_ENST00000542537.1_Missense_Mutation_p.F1963L|RYR2_ENST00000360064.6_Missense_Mutation_p.F1977L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1979	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCTCAATTTTAAGGATGACA	0.383																																						uc001hyl.1		NaN																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5935-5937)TTT>TTG		cardiac muscle ryanodine receptor							87.0	83.0	84.0					1																	237787085		1836	4095	5931	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237787085T>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5937T>G	1.37:g.237787085T>G	ENSP00000355533:p.Phe1979Leu						p.F1979L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		39	6057	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1979			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5937T>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.802587	0.50315	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.71461	-0.57;-0.57;-0.57	5.34	1.76	0.24704	.	0.000000	0.64402	D	0.000003	T	0.72342	0.3448	M	0.89601	3.045	0.80722	D	1	B	0.13594	0.008	B	0.10450	0.005	T	0.68017	-0.5520	10	0.72032	D	0.01	.	8.4084	0.32629	0.0:0.2898:0.0:0.7102	.	1979	Q92736	RYR2_HUMAN	L	1979;1977;1963	ENSP00000355533:F1979L;ENSP00000353174:F1977L;ENSP00000443798:F1963L	ENSP00000353174:F1977L	F	+	3	2	RYR2	235853708	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.286000	0.33273	0.110000	0.17919	-0.262000	0.10625	TTT		0.383	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		3	26	0	0	0	0.004672	0	3	26		
ADARB2	105	broad.mit.edu	37	10	1230959	1230959	+	Missense_Mutation	SNP	G	G	A	rs141253548		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr10:1230959G>A	ENST00000381312.1	-	9	2210	c.1885C>T	c.(1885-1887)Cgc>Tgc	p.R629C	ADARB2_ENST00000381305.1_Missense_Mutation_p.R31C|ADARB2_ENST00000381310.3_Missense_Mutation_p.R138C	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	629	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCCGGCTGGCGCGCCTCGGCG	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		15334	0.0		0.001	False		,,,				2504	0.0					uc009xhq.2		NaN																	0				large_intestine(2)|central_nervous_system(1)	3						c.(1885-1887)CGC>TGC		adenosine deaminase, RNA-specific, B2		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	26.0	26.0	26.0		1885	3.9	0.4	10	dbSNP_134	26	7,8589	5.7+/-21.5	0,7,4291	yes	missense	ADARB2	NM_018702.3	180	0,8,6493	AA,AG,GG		0.0814,0.0227,0.0615	probably-damaging	629/740	1230959	8,12994	2203	4298	6501	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1230959G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1885C>T	10.37:g.1230959G>A	ENSP00000370713:p.Arg629Cys					ADARB2_uc009xhp.2_Missense_Mutation_p.R13C|ADARB2_uc001igl.3_5'UTR|ADARB2_uc001igm.3_Missense_Mutation_p.R138C	p.R629C	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	9	2259	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	629			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.1885C>T	CCDS7058.1	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	0	0.0	1	0.0013192612137203166	G	15.31	2.795036	0.50208	2.27E-4	8.14E-4	ENSG00000185736	ENST00000381312;ENST00000381310;ENST00000381305	D;D;D	0.94184	-3.37;-3.37;-3.37	4.81	3.89	0.44902	Adenosine deaminase/editase (3);	0.168364	0.50627	D	0.000117	D	0.95664	0.8590	M	0.87827	2.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.989	D	0.95090	0.8221	10	0.87932	D	0	-25.0689	14.206	0.65734	0.0:0.0:0.8492:0.1508	.	629;31;138	Q9NS39;Q5VW43;Q5VW42	RED2_HUMAN;.;.	C	629;138;31	ENSP00000370713:R629C;ENSP00000370711:R138C;ENSP00000370706:R31C	ENSP00000370706:R31C	R	-	1	0	ADARB2	1220959	1.000000	0.71417	0.433000	0.26760	0.057000	0.15508	4.678000	0.61641	0.984000	0.38629	0.561000	0.74099	CGC		0.672	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1		NM_018702		10	80	0	0	0	0.008291	0	10	80		
DOCK1	1793	broad.mit.edu	37	10	128798484	128798484	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr10:128798484C>G	ENST00000280333.6	+	10	1007	c.898C>G	c.(898-900)Cag>Gag	p.Q300E	RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	300					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)		TTTTGTCTGTCAGATTGTTCG	0.448																																						uc001ljt.2		NaN																	0				central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(898-900)CAG>GAG		dedicator of cytokinesis 1							93.0	97.0	96.0					10																	128798484		1916	4135	6051	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.chr10:128798484C>G	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.898C>G	10.37:g.128798484C>G	ENSP00000280333:p.Gln300Glu					DOCK1_uc010qun.1_Missense_Mutation_p.Q300E	p.Q300E	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	10	962	+		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)	300					A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.898C>G		.	.	.	.	.	.	.	.	.	.	C	23.8	4.459109	0.84317	.	.	ENSG00000150760	ENST00000280333	T	0.16597	2.33	4.0	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	M	0.83118	2.625	0.58432	D	0.999999	P;D	0.56035	0.892;0.974	P;P	0.50659	0.647;0.625	T	0.34825	-0.9813	10	0.38643	T	0.18	.	17.4311	0.87539	0.0:1.0:0.0:0.0	.	300;300	B2RUU3;Q14185	.;DOCK1_HUMAN	E	300	ENSP00000280333:Q300E	ENSP00000280333:Q300E	Q	+	1	0	DOCK1	128688474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.470000	0.80973	2.525000	0.85131	0.655000	0.94253	CAG		0.448	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2		NM_001380		4	39	0	0	0	0.014758	0	4	39		
SAA2	6289	broad.mit.edu	37	11	18267001	18267001	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:18267001G>C	ENST00000526900.1	-	4	475	c.292C>G	c.(292-294)Cag>Gag	p.Q98E	SAA2_ENST00000528349.1_Intron|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000529528.1_Missense_Mutation_p.Q98E|RNA5SP333_ENST00000363466.1_RNA|SAA2_ENST00000414546.2_Intron|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000256733.4_Missense_Mutation_p.Q98E			P0DJI9	SAA2_HUMAN	serum amyloid A2	98					acute-phase response (GO:0006953)	extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						TTGGCAGCCTGATCGGCCAGC	0.552																																						uc001mnz.3		NaN																	0					0						c.(292-294)CAG>GAG		serum amyloid A2 isoform a	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						88.0	78.0	81.0					11																	18267001		2199	4293	6492	SO:0001583	missense	6289				acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding	g.chr11:18267001G>C	M26152	CCDS7833.1, CCDS44548.1	11p15.1-p14	2008-07-21			ENSG00000134339	ENSG00000134339			10514	protein-coding gene	gene with protein product		104751				7686132	Standard	NM_030754		Approved			P0DJI9	OTTHUMG00000166484	ENST00000526900.1:c.292C>G	11.37:g.18267001G>C	ENSP00000436126:p.Gln98Glu					SAA2_uc009yhj.2_Intron	p.Q98E	NM_030754	NP_110381	P02735	SAA_HUMAN			4	329	-			98	ADQAAN -> SEATVK (in Ref. 11; AA sequence).				G3XAK9|P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	ENST00000526900.1	37	c.292C>G	CCDS7833.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846920	0.32606	.	.	ENSG00000134339	ENST00000256733;ENST00000529528;ENST00000526900	T;T;T	0.10005	2.92;2.92;2.92	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.23611	0.0571	.	.	.	0.36831	D	0.886903	.	.	.	.	.	.	T	0.02333	-1.1175	7	0.44086	T	0.13	.	15.8568	0.78983	0.0:0.0:1.0:0.0	.	.	.	.	E	98	ENSP00000256733:Q98E;ENSP00000437162:Q98E;ENSP00000436126:Q98E	ENSP00000256733:Q98E	Q	-	1	0	SAA2	18223577	1.000000	0.71417	0.991000	0.47740	0.113000	0.19764	6.443000	0.73447	2.511000	0.84671	0.650000	0.86243	CAG		0.552	SAA2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389983.1		NM_030754		9	111	0	0	0	0.006214	0	9	111		
FAT3	120114	broad.mit.edu	37	11	92495148	92495148	+	Missense_Mutation	SNP	C	C	T	rs529470178		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:92495148C>T	ENST00000298047.6	+	4	3813	c.3796C>T	c.(3796-3798)Cgt>Tgt	p.R1266C	RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000525166.1_Missense_Mutation_p.R1116C|FAT3_ENST00000409404.2_Missense_Mutation_p.R1266C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1266	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTGCCAGAACGTGACCGAAA	0.473										TCGA Ovarian(4;0.039)																												uc001pdj.3		NaN																	0				ovary(4)|pancreas(1)	5						c.(3796-3798)CGT>TGT		FAT tumor suppressor homolog 3							179.0	173.0	175.0					11																	92495148		1901	4128	6029	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92495148C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3796C>T	11.37:g.92495148C>T	ENSP00000298047:p.Arg1266Cys	TCGA Ovarian(4;0.039)					p.R1266C	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			4	3813	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1266			Cadherin 12.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.3796C>T		.	.	.	.	.	.	.	.	.	.	C	18.37	3.610250	0.66558	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.52754	0.65;0.65;0.65	5.58	4.66	0.58398	.	.	.	.	.	T	0.71056	0.3295	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76589	-0.2904	9	0.87932	D	0	.	13.6289	0.62183	0.3994:0.6006:0.0:0.0	.	1266	Q8TDW7-3	.	C	1266;1266;1116	ENSP00000298047:R1266C;ENSP00000387040:R1266C;ENSP00000432586:R1116C	ENSP00000298047:R1266C	R	+	1	0	FAT3	92134796	1.000000	0.71417	0.952000	0.39060	0.968000	0.65278	1.948000	0.40303	1.335000	0.45486	0.563000	0.77884	CGT		0.473	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781		12	117	0	0	0	0.016723	0	12	117		
FAT3	120114	broad.mit.edu	37	11	92532073	92532073	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:92532073C>T	ENST00000298047.6	+	9	5911	c.5894C>T	c.(5893-5895)aCc>aTc	p.T1965I	FAT3_ENST00000525166.1_Missense_Mutation_p.T1815I|FAT3_ENST00000409404.2_Missense_Mutation_p.T1965I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1965	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTCTACAGTACCTCCATGGTC	0.418										TCGA Ovarian(4;0.039)																												uc001pdj.3		NaN																	0				ovary(4)|pancreas(1)	5						c.(5893-5895)ACC>ATC		FAT tumor suppressor homolog 3							129.0	124.0	126.0					11																	92532073		1933	4133	6066	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532073C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5894C>T	11.37:g.92532073C>T	ENSP00000298047:p.Thr1965Ile	TCGA Ovarian(4;0.039)					p.T1965I	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	5911	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1965			Cadherin 17.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.5894C>T		.	.	.	.	.	.	.	.	.	.	C	11.89	1.774749	0.31411	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.02890	4.12;4.12;4.12	6.02	6.02	0.97574	.	.	.	.	.	T	0.07007	0.0178	M	0.64260	1.97	0.80722	D	1	P	0.45283	0.855	B	0.41510	0.359	T	0.05037	-1.0910	9	0.56958	D	0.05	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	1965	Q8TDW7-3	.	I	1965;1965;1815	ENSP00000298047:T1965I;ENSP00000387040:T1965I;ENSP00000432586:T1815I	ENSP00000298047:T1965I	T	+	2	0	FAT3	92171721	1.000000	0.71417	0.765000	0.31456	0.789000	0.44602	6.027000	0.70881	2.865000	0.98341	0.655000	0.94253	ACC		0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781		35	56	0	0	0	0.013726	0	35	56		
CNTN5	53942	broad.mit.edu	37	11	100211904	100211904	+	Silent	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:100211904A>G	ENST00000524871.1	+	23	3287	c.2997A>G	c.(2995-2997)ccA>ccG	p.P999P	CNTN5_ENST00000528682.1_Silent_p.P999P|CNTN5_ENST00000418526.2_Silent_p.P925P|CNTN5_ENST00000279463.3_Silent_p.P999P|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	999	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCGTCATACCATTAGCCAACG	0.433																																						uc001pga.2		NaN																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(2995-2997)CCA>CCG		contactin 5 isoform long							145.0	143.0	144.0					11																	100211904		1870	4110	5980	SO:0001819	synonymous_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100211904A>G	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2997A>G	11.37:g.100211904A>G						CNTN5_uc001pgb.2_Silent_p.P925P|CNTN5_uc010ruk.1_Silent_p.P270P	p.P999P	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	23	3336	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	999			Fibronectin type-III 4.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	c.2997A>G	CCDS53696.1																																																																																				0.433	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2		NM_014361		25	94	0	0	0	0.024334	0	25	94		
PVRL1	5818	broad.mit.edu	37	11	119547811	119547811	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:119547811C>T	ENST00000264025.3	-	4	1382		c.e4+1		PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Splice_Site|PVRL1_ENST00000341398.2_Splice_Site	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)						adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GCAGCACTTACGTGGTCCAGT	0.577																																						uc001pwv.2		NaN																	0					0						c.e4+1		poliovirus receptor-related 1 isoform 1							97.0	72.0	80.0					11																	119547811		2199	4295	6494	SO:0001630	splice_region_variant	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119547811C>T	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.851+1G>A	11.37:g.119547811C>T						PVRL1_uc001pwu.1_Splice_Site_p.T284_splice|PVRL1_uc001pww.2_Splice_Site_p.T284_splice	p.T284_splice	NM_002855	NP_002846	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	4	1023	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)						O75465|Q2M3D3|Q9HBE6|Q9HBW2	Splice_Site	SNP	ENST00000264025.3	37	c.851_splice	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362262	0.82353	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.301	0.90163	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PVRL1	119053021	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.484000	0.81180	2.580000	0.87095	0.655000	0.94253	.		0.577	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			Intron	13	63	0	0	0	0.020292	0	13	63		
SLC2A14	144195	broad.mit.edu	37	12	7970478	7970478	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:7970478G>A	ENST00000543909.1	-	15	2052	c.1293C>T	c.(1291-1293)tgC>tgT	p.C431C	SLC2A14_ENST00000539924.1_Silent_p.C446C|SLC2A14_ENST00000542505.1_Silent_p.C72C|SLC2A14_ENST00000396589.2_Silent_p.C431C|SLC2A14_ENST00000431042.2_Silent_p.C408C|SLC2A14_ENST00000535295.1_Silent_p.C322C|SLC2A14_ENST00000542546.1_Silent_p.C322C|SLC2A14_ENST00000340749.5_Silent_p.C408C			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	431					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TCCAGTTGGAGCAGCCGGCCA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.001		0.0	False		,,,				2504	0.0					uc001qtk.2		NaN																	0				ovary(1)	1						c.(1291-1293)TGC>TGT		glucose transporter 14							42.0	44.0	43.0					12																	7970478		2203	4298	6501	SO:0001819	synonymous_variant	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7970478G>A	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1293C>T	12.37:g.7970478G>A						SLC2A14_uc001qtl.2_Silent_p.C408C|SLC2A14_uc001qtm.2_Silent_p.C408C|SLC2A14_uc010sgg.1_Silent_p.C322C|SLC2A14_uc001qtn.2_Silent_p.C431C|SLC2A14_uc001qto.2_Silent_p.C66C|SLC2A14_uc010sgh.1_Silent_p.C446C	p.C431C	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	15	2086	-			431			Helical; Name=11; (Potential).		B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Silent	SNP	ENST00000543909.1	37	c.1293C>T	CCDS8585.1																																																																																				0.522	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2		NM_153449		14	146	0	0	0	0.0333	0	14	146		
ADCY6	112	broad.mit.edu	37	12	49176704	49176704	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:49176704C>T	ENST00000307885.4	-	1	1208	c.514G>A	c.(514-516)Gca>Aca	p.A172T	ADCY6_ENST00000357869.3_Missense_Mutation_p.A172T|ADCY6_ENST00000550422.1_Missense_Mutation_p.A172T	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	172					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CGGGCGGGTGCGGCGTGGAAA	0.647																																						uc001rsh.3		NaN																	0					0						c.(514-516)GCA>ACA		adenylate cyclase 6 isoform a							33.0	34.0	34.0					12																	49176704		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49176704C>T		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.514G>A	12.37:g.49176704C>T	ENSP00000311405:p.Ala172Thr					ADCY6_uc001rsj.3_Missense_Mutation_p.A172T|ADCY6_uc001rsi.3_Missense_Mutation_p.A172T	p.A172T	NM_015270	NP_056085	O43306	ADCY6_HUMAN			1	1174	-			172					Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.514G>A	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	C	6.073	0.381819	0.11524	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.23950	1.88;1.88;1.88	5.36	5.36	0.76844	.	0.587296	0.16428	N	0.214838	T	0.12008	0.0292	N	0.03608	-0.345	0.09310	N	1	B;B	0.22211	0.066;0.012	B;B	0.16722	0.016;0.002	T	0.16808	-1.0390	10	0.28530	T	0.3	.	11.3629	0.49655	0.0:0.9154:0.0:0.0846	.	172;172	O43306-2;O43306	.;ADCY6_HUMAN	T	172	ENSP00000350536:A172T;ENSP00000446730:A172T;ENSP00000311405:A172T	ENSP00000311405:A172T	A	-	1	0	ADCY6	47462971	0.003000	0.15002	0.130000	0.21974	0.136000	0.21042	1.090000	0.30902	2.515000	0.84797	0.462000	0.41574	GCA		0.647	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1		NM_020983		7	100	0	0	0	0.00308	0	7	100		
DIP2B	57609	broad.mit.edu	37	12	51034594	51034594	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:51034594G>A	ENST00000301180.5	+	3	294	c.260G>A	c.(259-261)cGa>cAa	p.R87Q		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	87	DMAP-interaction.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						AAGTACCACCGAACTCGATCT	0.468																																						uc001rwv.2		NaN																	0				ovary(4)|breast(1)|pancreas(1)	6						c.(259-261)CGA>CAA		DIP2 disco-interacting protein 2 homolog B							75.0	72.0	73.0					12																	51034594		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51034594G>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.260G>A	12.37:g.51034594G>A	ENSP00000301180:p.Arg87Gln					DIP2B_uc001rwu.2_Missense_Mutation_p.R87Q|DIP2B_uc009zls.1_5'UTR	p.R87Q	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			3	416	+			87					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.260G>A	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951765	0.92660	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.47177	0.85	5.58	5.58	0.84498	DMAP1-binding (1);	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	L	0.38175	1.15	0.54753	D	0.999987	B;D	0.71674	0.017;0.998	B;P	0.62089	0.007;0.898	T	0.45948	-0.9226	10	0.22109	T	0.4	-6.8855	18.3375	0.90294	0.0:0.0:1.0:0.0	.	87;87	Q9P265;E9PHD6	DIP2B_HUMAN;.	Q	87	ENSP00000301180:R87Q	ENSP00000301180:R87Q	R	+	2	0	DIP2B	49320861	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.003000	0.70701	2.617000	0.88574	0.563000	0.77884	CGA		0.468	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1		NM_173602		15	28	0	0	0	0.028581	0	15	28		
PLXNC1	10154	broad.mit.edu	37	12	94648979	94648979	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:94648979G>A	ENST00000258526.4	+	17	3243	c.2994G>A	c.(2992-2994)gaG>gaA	p.E998E	PLXNC1_ENST00000547057.1_Silent_p.E45E	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	998					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCTTTGCTGAGCTGCAGATGG	0.393																																						uc001tdc.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2992-2994)GAG>GAA		plexin C1 precursor							185.0	168.0	174.0					12																	94648979		2203	4300	6503	SO:0001819	synonymous_variant	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94648979G>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2994G>A	12.37:g.94648979G>A						PLXNC1_uc010sut.1_Silent_p.E45E	p.E998E	NM_005761	NP_005752	O60486	PLXC1_HUMAN			17	3243	+			998			Cytoplasmic (Potential).		Q59H25	Silent	SNP	ENST00000258526.4	37	c.2994G>A	CCDS9049.1																																																																																				0.393	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2				8	30	0	0	0	0.006214	0	8	30		
NCOR2	9612	broad.mit.edu	37	12	124824693	124824693	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:124824693G>A	ENST00000405201.1	-	37	5546	c.5546C>T	c.(5545-5547)gCc>gTc	p.A1849V	NCOR2_ENST00000356219.3_Missense_Mutation_p.A1856V|NCOR2_ENST00000397355.1_Missense_Mutation_p.A1840V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A1839V|NCOR2_ENST00000429285.2_Missense_Mutation_p.A1839V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1410V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1860					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGAGTGGGAGGCGGGgcggct	0.677																																						uc010tay.1		NaN																	0				skin(3)|ovary(1)	4						c.(5575-5577)GCC>GTC		nuclear receptor co-repressor 2 isoform 1							44.0	51.0	49.0					12																	124824693		2047	4178	6225	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124824693G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5546C>T	12.37:g.124824693G>A	ENSP00000384018:p.Ala1849Val					NCOR2_uc010taz.1_Missense_Mutation_p.A1843V|NCOR2_uc010tax.1_5'UTR	p.A1859V	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	39	5732	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1860					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.5576C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764754	0.31228	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	T;T;T;T;T;T	0.18502	2.21;2.47;2.21;2.47;2.21;2.47	4.18	4.18	0.49190	.	0.445603	0.24291	N	0.039809	T	0.10252	0.0251	N	0.14661	0.345	0.30718	N	0.748587	P;P	0.47910	0.842;0.902	B;B	0.35039	0.095;0.194	T	0.03818	-1.1001	10	0.72032	D	0.01	-14.0267	16.4861	0.84184	0.0:0.0:1.0:0.0	.	1840;1849	C9J239;C9JFD3	.;.	V	1849;1839;1856;1840;1848;1410;1839	ENSP00000384018:A1849V;ENSP00000384202:A1839V;ENSP00000348551:A1856V;ENSP00000380513:A1840V;ENSP00000385618:A1410V;ENSP00000400281:A1839V	ENSP00000348551:A1856V	A	-	2	0	NCOR2	123390646	1.000000	0.71417	0.982000	0.44146	0.304000	0.27724	7.371000	0.79600	1.858000	0.53909	0.491000	0.48974	GCC		0.677	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2		NM_006312		25	45	0	0	0	0.016522	0	25	45		
TMEM132D	121256	broad.mit.edu	37	12	130185155	130185155	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:130185155C>T	ENST00000422113.2	-	2	494	c.168G>A	c.(166-168)gcG>gcA	p.A56A	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	56					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGGAGACGTCCGCGTTGTTGA	0.562																																						uc009zyl.1		NaN																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(166-168)GCG>GCA		transmembrane protein 132D precursor							92.0	69.0	77.0					12																	130185155		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130185155C>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.168G>A	12.37:g.130185155C>T							p.A56A	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	496	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	56			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.168G>A	CCDS9266.1																																																																																				0.562	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1		NM_133448		10	36	0	0	0	0.006214	0	10	36		
FNDC3A	22862	broad.mit.edu	37	13	49777357	49777357	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr13:49777357G>T	ENST00000492622.2	+	25	3524	c.3219G>T	c.(3217-3219)atG>atT	p.M1073I	FNDC3A_ENST00000398316.3_Missense_Mutation_p.M1017I|FNDC3A_ENST00000541916.1_Missense_Mutation_p.M1073I	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1073	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TACAGCCAATGAAAGGTGATC	0.328																																						uc001vcm.2		NaN																	0				lung(2)	2						c.(3217-3219)ATG>ATT		fibronectin type III domain containing 3A							122.0	119.0	120.0					13																	49777357		2202	4296	6498	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49777357G>T	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3219G>T	13.37:g.49777357G>T	ENSP00000417257:p.Met1073Ile					FNDC3A_uc001vcn.2_Missense_Mutation_p.M1073I|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Missense_Mutation_p.M1017I	p.M1073I	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	25	3524	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	1073			Fibronectin type-III 9.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.3219G>T	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192333	0.58017	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.34667	1.35;1.35;1.36	5.78	5.78	0.91487	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	L	0.58583	1.82	0.80722	D	1	B;B	0.26512	0.151;0.041	B;B	0.29862	0.108;0.032	T	0.13845	-1.0494	10	0.21540	T	0.41	-14.692	18.9873	0.92777	0.0:0.0:1.0:0.0	.	1017;1073	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	I	1073;1009;1073;1017	ENSP00000417257:M1073I;ENSP00000441831:M1073I;ENSP00000381362:M1017I	ENSP00000338579:M1009I	M	+	3	0	FNDC3A	48675358	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.414000	0.97362	2.724000	0.93272	0.655000	0.94253	ATG		0.328	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2		NM_014923		15	27	1	0	9.16793e-09	0.0333	1.03813e-08	15	27		
GPC5	2262	broad.mit.edu	37	13	92345539	92345539	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr13:92345539C>A	ENST00000377067.3	+	3	796	c.424C>A	c.(424-426)Cag>Aag	p.Q142K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	142					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGCTTCGGTTCAGGAGTTCTT	0.408																																						uc010tif.1		NaN																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(424-426)CAG>AAG		glypican 5 precursor							136.0	140.0	139.0					13																	92345539		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92345539C>A	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.424C>A	13.37:g.92345539C>A	ENSP00000366267:p.Gln142Lys						p.Q142K	NM_004466	NP_004457	P78333	GPC5_HUMAN			3	790	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	142					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.424C>A	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	3.827	-0.036636	0.07497	.	.	ENSG00000179399	ENST00000377067	T	0.47528	0.84	5.07	5.07	0.68467	.	0.374709	0.28436	N	0.015360	T	0.39911	0.1096	L	0.49640	1.575	0.28319	N	0.922301	B	0.15141	0.012	B	0.24701	0.055	T	0.32903	-0.9889	10	0.06365	T	0.9	.	13.2218	0.59892	0.0:0.8403:0.1597:0.0	.	142	P78333	GPC5_HUMAN	K	142	ENSP00000366267:Q142K	ENSP00000366267:Q142K	Q	+	1	0	GPC5	91143540	0.997000	0.39634	0.991000	0.47740	0.975000	0.68041	0.645000	0.24782	2.351000	0.79841	0.467000	0.42956	CAG		0.408	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1		NM_004466		11	80	1	0	2.27111e-07	0.013537	2.53443e-07	11	80		
TUBGCP3	10426	broad.mit.edu	37	13	113181716	113181716	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr13:113181716G>A	ENST00000261965.3	-	12	1604	c.1418C>T	c.(1417-1419)tCg>tTg	p.S473L	TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.S473L	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	473					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CGTCATAAACGAAGGAATCAT	0.368																																						uc001vse.1		NaN																	0				central_nervous_system(1)	1						c.(1417-1419)TCG>TTG		tubulin, gamma complex associated protein 3							148.0	136.0	140.0					13																	113181716		2203	4300	6503	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113181716G>A	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1418C>T	13.37:g.113181716G>A	ENSP00000261965:p.Ser473Leu					TUBGCP3_uc010tjq.1_Missense_Mutation_p.S463L|TUBGCP3_uc001vsf.2_Missense_Mutation_p.S473L	p.S473L	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN			12	1605	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		473					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.1418C>T	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564912	0.65651	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.09350	2.99;2.99	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.18759	0.0450	M	0.76574	2.34	0.80722	D	1	B;B;B	0.29136	0.234;0.055;0.234	B;B;B	0.32624	0.149;0.027;0.149	T	0.03922	-1.0992	10	0.45353	T	0.12	-16.6057	17.1277	0.86718	0.0:0.0:1.0:0.0	.	463;473;473	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	L	473	ENSP00000261965:S473L;ENSP00000364821:S473L	ENSP00000261965:S473L	S	-	2	0	TUBGCP3	112229717	1.000000	0.71417	0.079000	0.20413	0.459000	0.32528	8.940000	0.92958	2.025000	0.59659	0.454000	0.30748	TCG		0.368	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2		NM_006322		6	78	0	0	0	0.021553	0	6	78		
AKAP6	9472	broad.mit.edu	37	14	33015022	33015022	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr14:33015022C>T	ENST00000280979.4	+	4	1333	c.1163C>T	c.(1162-1164)aCa>aTa	p.T388I	AKAP6_ENST00000557272.1_Missense_Mutation_p.T388I|AKAP6_ENST00000557354.1_Missense_Mutation_p.T388I	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	388					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACGCAGCCTACATTGCCAAAA	0.418																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NaN																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(1162-1164)ACA>ATA		A-kinase anchor protein 6							61.0	65.0	64.0					14																	33015022		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33015022C>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.1163C>T	14.37:g.33015022C>T	ENSP00000280979:p.Thr388Ile					AKAP6_uc010aml.2_Missense_Mutation_p.T385I	p.T388I	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	4	1333	+	Breast(36;0.0388)|Prostate(35;0.15)		388					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.1163C>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956834	0.73902	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272;ENST00000553547	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.74	5.74	0.90152	.	0.152009	0.46758	D	0.000276	T	0.46444	0.1393	L	0.60455	1.87	0.46586	D	0.999119	D;D	0.57899	0.981;0.981	P;P	0.52109	0.69;0.69	T	0.42378	-0.9455	10	0.87932	D	0	-11.2712	19.9254	0.97100	0.0:1.0:0.0:0.0	.	388;388	A7E242;Q13023	.;AKAP6_HUMAN	I	388;388;388;146	ENSP00000280979:T388I;ENSP00000450531:T388I;ENSP00000451247:T388I;ENSP00000451239:T146I	ENSP00000280979:T388I	T	+	2	0	AKAP6	32084773	1.000000	0.71417	0.980000	0.43619	0.807000	0.45602	6.610000	0.74178	2.710000	0.92621	0.655000	0.94253	ACA		0.418	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2		NM_004274		9	47	0	0	0	0.004482	0	9	47		
INSM2	84684	broad.mit.edu	37	14	36004658	36004658	+	Silent	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr14:36004658C>A	ENST00000307169.3	+	1	1411	c.1200C>A	c.(1198-1200)ggC>ggA	p.G400G		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		TGCCTCAGGGCCCCTACACGG	0.682																																						uc001wth.1		NaN																	0				lung(1)|skin(1)	2						c.(1198-1200)GGC>GGA		insulinoma-associated protein IA-6							24.0	30.0	28.0					14																	36004658		2160	4279	6439	SO:0001819	synonymous_variant	84684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:36004658C>A	AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"""Zinc fingers, C2H2-type"""	17539	protein-coding gene	gene with protein product	"""mlt 1"""	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.1200C>A	14.37:g.36004658C>A							p.G400G	NM_032594	NP_115983	Q96T92	INSM2_HUMAN	LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)	1	1411	+	Breast(36;0.122)|Hepatocellular(127;0.158)		400					A1L432|J9Y024|Q8N8K7|Q96Q84	Silent	SNP	ENST00000307169.3	37	c.1200C>A	CCDS9657.1																																																																																				0.682	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1				7	70	1	0	1.6384e-10	0.02938	1.88294e-10	7	70		
GPR65	8477	broad.mit.edu	37	14	88477734	88477734	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr14:88477734C>G	ENST00000267549.3	+	2	1101	c.543C>G	c.(541-543)atC>atG	p.I181M	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	181					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						AATGGCAAATCAACCTCAACT	0.413																																						uc001xvv.2		NaN																	0					0						c.(541-543)ATC>ATG		G protein-coupled receptor 65							93.0	90.0	91.0					14																	88477734		2203	4299	6502	SO:0001583	missense	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477734C>G	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.543C>G	14.37:g.88477734C>G	ENSP00000267549:p.Ile181Met						p.I181M	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN			2	1073	+			181			Helical; Name=5; (Potential).		O75819	Missense_Mutation	SNP	ENST00000267549.3	37	c.543C>G	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.886059	0.33348	.	.	ENSG00000140030	ENST00000267549	T	0.37915	1.17	5.96	-3.78	0.04333	GPCR, rhodopsin-like superfamily (1);	0.330837	0.24128	N	0.041288	T	0.30479	0.0766	L	0.45352	1.415	0.18873	N	0.999984	D	0.54397	0.966	P	0.55455	0.776	T	0.18524	-1.0334	10	0.33940	T	0.23	.	1.2486	0.01978	0.1785:0.2423:0.1654:0.4137	.	181	Q8IYL9	PSYR_HUMAN	M	181	ENSP00000267549:I181M	ENSP00000267549:I181M	I	+	3	3	GPR65	87547487	0.000000	0.05858	0.028000	0.17463	0.980000	0.70556	-0.893000	0.04127	-0.239000	0.09710	0.650000	0.86243	ATC		0.413	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4				5	92	0	0	0	0.021553	0	5	92		
CHAC1	79094	broad.mit.edu	37	15	41247690	41247690	+	Silent	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr15:41247690T>C	ENST00000446533.3	+	3	822	c.513T>C	c.(511-513)taT>taC	p.Y171Y	CHAC1_ENST00000444189.2_Intron|CHAC1_ENST00000487220.1_5'UTR	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	171					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein processing (GO:0010955)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|trans-Golgi network (GO:0005802)	Notch binding (GO:0005112)			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TCACCTTCTATCCCCAAGATG	0.572																																						uc001znh.2		NaN																	0					0						c.(511-513)TAT>TAC		ChaC, cation transport regulator-like 1 isoform							224.0	173.0	190.0					15																	41247690		2203	4300	6503	SO:0001819	synonymous_variant	79094				apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding	g.chr15:41247690T>C	BC019625	CCDS10070.2, CCDS45233.1	15q15.1	2013-09-12	2006-09-12		ENSG00000128965	ENSG00000128965			28680	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 1"""	614587	"""ChaC, cation transport regulator-like 1 (E. coli)"""			23070364	Standard	NM_024111		Approved	MGC4504	uc001znh.2	Q9BUX1	OTTHUMG00000130208	ENST00000446533.3:c.513T>C	15.37:g.41247690T>C						CHAC1_uc010uct.1_Intron	p.Y171Y	NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)	3	533	+		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	171					Q0VIA0	Silent	SNP	ENST00000446533.3	37	c.513T>C	CCDS10070.2																																																																																				0.572	CHAC1-001	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252526.3		NM_024111		27	215	0	0	0	0.030593	0	27	215		
BLOC1S6	26258	broad.mit.edu	37	15	45898644	45898644	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr15:45898644G>A	ENST00000220531.3	+	5	772	c.451G>A	c.(451-453)Gag>Aag	p.E151K	BLOC1S6_ENST00000568816.1_Missense_Mutation_p.E54K|BLOC1S6_ENST00000565216.1_Missense_Mutation_p.E110K|RP11-96O20.4_ENST00000564080.1_Intron|BLOC1S6_ENST00000567461.1_Missense_Mutation_p.E54K|BLOC1S6_ENST00000565323.1_Missense_Mutation_p.E156K|BLOC1S6_ENST00000562384.1_Missense_Mutation_p.E54K|BLOC1S6_ENST00000565409.1_Missense_Mutation_p.E54K|BLOC1S6_ENST00000564765.1_Missense_Mutation_p.E25K|BLOC1S6_ENST00000567740.1_3'UTR	NM_012388.2	NP_036520.1	Q9UL45	BL1S6_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 6, pallidin	151					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|endosome to melanosome transport (GO:0035646)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of pigment cell differentiation (GO:0050942)|post-Golgi vesicle-mediated transport (GO:0006892)|secretion of lysosomal enzymes (GO:0033299)|synaptic vesicle docking involved in exocytosis (GO:0016081)	BLOC-1 complex (GO:0031083)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|transport vesicle (GO:0030133)	actin filament binding (GO:0051015)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)										GTTGGAAAGGGAGCAGCAACG	0.398																																						uc001zvq.2		NaN																	0				skin(1)	1						c.(451-453)GAG>AAG		pallidin							208.0	200.0	203.0					15																	45898644		2198	4298	6496	SO:0001583	missense	26258				post-Golgi vesicle-mediated transport|synaptic vesicle docking involved in exocytosis	BLOC-1 complex|endomembrane system|membrane	identical protein binding|syntaxin-13 binding	g.chr15:45898644G>A	AF080470	CCDS10126.1	15q21.1	2013-09-27	2012-08-07	2012-08-01	ENSG00000104164	ENSG00000104164		"""Biogenesis of lysosomal organelles complex-1 subunits"""	8549	protein-coding gene	gene with protein product		604310	"""pallid (mouse) homolog, pallidin"", ""pallidin homolog (mouse)"""	PA, PLDN		10610180	Standard	NM_012388		Approved	HPS9	uc001zvq.3	Q9UL45	OTTHUMG00000131477	ENST00000220531.3:c.451G>A	15.37:g.45898644G>A	ENSP00000220531:p.Glu151Lys					PLDN_uc001zvr.2_RNA|PLDN_uc001zvs.2_RNA	p.E151K	NM_012388	NP_036520	Q9UL45	PLDN_HUMAN		all cancers(107;6.58e-18)|GBM - Glioblastoma multiforme(94;5.91e-07)	5	676	+		Lung NSC(122;1.6e-06)|all_lung(180;1.13e-05)|Melanoma(134;0.027)	151			Potential.			Missense_Mutation	SNP	ENST00000220531.3	37	c.451G>A	CCDS10126.1	.	.	.	.	.	.	.	.	.	.	G	35	5.436062	0.96168	.	.	ENSG00000104164	ENST00000220531	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.74520	0.3727	M	0.80616	2.505	0.80722	D	1	D	0.55385	0.971	P	0.50934	0.654	T	0.77186	-0.2680	9	0.66056	D	0.02	-18.3332	18.3732	0.90420	0.0:0.0:1.0:0.0	.	151	Q9UL45	PLDN_HUMAN	K	151	.	ENSP00000220531:E151K	E	+	1	0	PLDN	43685936	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.689000	0.84165	2.941000	0.99782	0.655000	0.94253	GAG		0.398	BLOC1S6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254320.2		NM_012388		8	57	0	0	0	0.004482	0	8	57		
CSNK1G1	53944	broad.mit.edu	37	15	64508801	64508801	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr15:64508801G>A	ENST00000303052.7	-	5	827	c.404C>T	c.(403-405)aCa>aTa	p.T135I	CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.T108I|CSNK1G1_ENST00000607537.1_Missense_Mutation_p.T135I|CSNK1G1_ENST00000303032.6_Missense_Mutation_p.T135I	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CAAAGTAAATGTTCGGTCACA	0.468																																						uc002anf.2		NaN																	0					0						c.(403-405)ACA>ATA		casein kinase 1, gamma 1							94.0	77.0	83.0					15																	64508801		2203	4300	6503	SO:0001583	missense	53944				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:64508801G>A	AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.404C>T	15.37:g.64508801G>A	ENSP00000305777:p.Thr135Ile					CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.T135I|CSNK1G1_uc002anh.1_Missense_Mutation_p.T135I|CSNK1G1_uc002anj.2_Missense_Mutation_p.T108I	p.T135I	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN			5	884	-			135			Protein kinase.		Q5JPH1|Q96AE9|Q9HCP1	Missense_Mutation	SNP	ENST00000303052.7	37	c.404C>T	CCDS10192.2	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894619	0.91962	.	.	ENSG00000169118	ENST00000303052;ENST00000447727;ENST00000303032	T;T	0.19669	2.13;2.13	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.093312	0.64402	D	0.000001	T	0.36991	0.0987	L	0.38692	1.165	0.80722	D	1	P;P;P	0.51791	0.936;0.948;0.948	P;P;P	0.61275	0.817;0.886;0.886	T	0.08806	-1.0704	10	0.87932	D	0	.	19.2436	0.93893	0.0:0.0:1.0:0.0	.	135;135;135	Q9HCP0-2;Q8IXA3;Q9HCP0	.;.;KC1G1_HUMAN	I	135;91;135	ENSP00000305777:T135I;ENSP00000307753:T135I	ENSP00000307753:T135I	T	-	2	0	CSNK1G1	62295854	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	7.943000	0.87716	2.623000	0.88846	0.561000	0.74099	ACA		0.468	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256605.1		NM_022048		21	25	0	0	0	0.01892	0	21	25		
IGDCC3	9543	broad.mit.edu	37	15	65625614	65625614	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr15:65625614C>T	ENST00000327987.4	-	6	1214	c.963G>A	c.(961-963)caG>caA	p.Q321Q	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	321	Ig-like C2-type 3.				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						CCAGCCGGCCCTGTGCCGTTC	0.642																																						uc002aos.2		NaN																	0				ovary(3)	3						c.(961-963)CAG>CAA		putative neuronal cell adhesion molecule							78.0	61.0	67.0					15																	65625614		2201	4299	6500	SO:0001819	synonymous_variant	9543							g.chr15:65625614C>T	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.963G>A	15.37:g.65625614C>T							p.Q321Q	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN			6	1215	-			321			Extracellular (Potential).|Ig-like C2-type 3.		O95215	Silent	SNP	ENST00000327987.4	37	c.963G>A	CCDS10205.1																																																																																				0.642	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1		NM_004884		8	84	0	0	0	0.004482	0	8	84		
LRRC49	54839	broad.mit.edu	37	15	71302263	71302263	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr15:71302263A>G	ENST00000260382.5	+	13	1785	c.1525A>G	c.(1525-1527)Aca>Gca	p.T509A	LRRC49_ENST00000560691.1_Missense_Mutation_p.T215A|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Missense_Mutation_p.T197A|LRRC49_ENST00000544974.2_Missense_Mutation_p.T499A|LRRC49_ENST00000560369.1_Missense_Mutation_p.T514A|LRRC49_ENST00000443425.2_Missense_Mutation_p.T465A	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	509						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TGTCAATTTTACACTCTGGAA	0.363																																						uc002asw.2		NaN																	0				ovary(1)	1						c.(1525-1527)ACA>GCA		leucine rich repeat containing 49							94.0	91.0	92.0					15																	71302263		2199	4297	6496	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71302263A>G		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1525A>G	15.37:g.71302263A>G	ENSP00000260382:p.Thr509Ala					LRRC49_uc002asu.2_Missense_Mutation_p.T499A|LRRC49_uc002asx.2_Missense_Mutation_p.T465A|LRRC49_uc010ukf.1_Missense_Mutation_p.T514A|LRRC49_uc002asy.2_Missense_Mutation_p.T215A|LRRC49_uc002asz.2_Missense_Mutation_p.T481A	p.T509A	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN			13	1772	+			509					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.1525A>G	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.279574	0.40294	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.33654	1.4;1.4;1.41	5.72	5.72	0.89469	.	0.054930	0.64402	D	0.000001	T	0.50343	0.1610	L	0.60455	1.87	0.45139	D	0.998159	P;P;P;P;D	0.56035	0.539;0.811;0.811;0.714;0.974	B;B;B;B;P	0.57776	0.177;0.331;0.331;0.177;0.827	T	0.44112	-0.9349	10	0.35671	T	0.21	-8.2883	13.948	0.64099	1.0:0.0:0.0:0.0	.	514;481;465;509;499	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	A	499;509;465;481	ENSP00000439600:T499A;ENSP00000260382:T509A;ENSP00000414065:T465A	ENSP00000260382:T509A	T	+	1	0	LRRC49	69089317	0.961000	0.32948	0.994000	0.49952	0.975000	0.68041	3.430000	0.52807	2.173000	0.68751	0.482000	0.46254	ACA		0.363	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3		NM_017691		6	35	0	0	0	0.02938	0	6	35		
RHBDF1	64285	broad.mit.edu	37	16	113739	113739	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:113739C>T	ENST00000262316.6	-	4	450	c.308G>A	c.(307-309)cGc>cAc	p.R103H	RHBDF1_ENST00000454039.2_Missense_Mutation_p.R103H	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	103					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GATGCTCTTGCGCTGCCATTT	0.657																																						uc002cfl.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(307-309)CGC>CAC		rhomboid family 1							81.0	70.0	74.0					16																	113739		2203	4300	6503	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:113739C>T	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.308G>A	16.37:g.113739C>T	ENSP00000262316:p.Arg103His					RHBDF1_uc010uty.1_Missense_Mutation_p.R126H|RHBDF1_uc010utz.1_Missense_Mutation_p.R103H|RHBDF1_uc010bqo.1_RNA	p.R103H	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN			7	456	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	103			Cytoplasmic (Potential).		Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.308G>A	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	36	5.788584	0.96945	.	.	ENSG00000007384	ENST00000262316;ENST00000454039;ENST00000338527;ENST00000450643;ENST00000420545	T;T;T	0.74209	-0.82;-0.82;-0.82	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.85932	0.5812	M	0.75264	2.295	0.58432	D	0.999999	D;D;P	0.89917	1.0;1.0;0.632	D;D;B	0.83275	0.989;0.996;0.381	D	0.85795	0.1370	10	0.45353	T	0.12	-32.8976	17.9106	0.88932	0.0:1.0:0.0:0.0	.	103;126;103	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	H	103;103;139;103;139	ENSP00000262316:R103H;ENSP00000392133:R103H;ENSP00000408915:R103H	ENSP00000262316:R103H	R	-	2	0	RHBDF1	53739	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.643000	0.83403	2.543000	0.85770	0.563000	0.77884	CGC		0.657	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2		NM_022450		7	51	0	0	0	0.004482	0	7	51		
GRIN2A	2903	broad.mit.edu	37	16	9916174	9916174	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:9916174C>G	ENST00000396573.2	-	11	2424	c.2115G>C	c.(2113-2115)atG>atC	p.M705I	GRIN2A_ENST00000562109.1_Missense_Mutation_p.M705I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M705I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.M705I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M705I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M548I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	705			M -> V (in FESD; unknown pathological significance). {ECO:0000269|PubMed:23933819}.		directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TAAATTTGGTCATGTACTGAT	0.468																																						uc002czo.3		NaN																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(2113-2115)ATG>ATC		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						168.0	146.0	154.0					16																	9916174		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9916174C>G		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2115G>C	16.37:g.9916174C>G	ENSP00000379818:p.Met705Ile					GRIN2A_uc010uym.1_Missense_Mutation_p.M705I|GRIN2A_uc010uyn.1_Missense_Mutation_p.M548I|GRIN2A_uc002czr.3_Missense_Mutation_p.M705I	p.M705I	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			10	2663	-			705			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2115G>C	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054924	0.93793	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	5.65	5.65	0.86999	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.54598	0.1868	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.91635	0.998;0.999;0.988	T	0.53272	-0.8462	9	.	.	.	.	18.7287	0.91726	0.0:1.0:0.0:0.0	.	548;705;705	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	I	705;705;548;705;705	ENSP00000379818:M705I;ENSP00000385872:M705I;ENSP00000441572:M548I;ENSP00000332549:M705I;ENSP00000379820:M705I	.	M	-	3	0	GRIN2A	9823675	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.684000	0.84104	2.655000	0.90218	0.655000	0.94253	ATG		0.468	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3				9	74	0	0	0	0.006214	0	9	74		
SNX29	92017	broad.mit.edu	37	16	12223537	12223537	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:12223537G>A	ENST00000566228.1	+	13	1586	c.1517G>A	c.(1516-1518)cGg>cAg	p.R506Q	SNX29_ENST00000306030.3_Missense_Mutation_p.R121Q|SNX29_ENST00000323433.4_Missense_Mutation_p.R121Q	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	506						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GCCGCGCTCCGGCAAGAGGTG	0.607																																						uc002dby.3		NaN																	0				ovary(1)	1						c.(361-363)CGG>CAG		sorting nexin 29							30.0	31.0	31.0					16																	12223537		2102	4236	6338	SO:0001583	missense	92017				cell communication		phosphatidylinositol binding	g.chr16:12223537G>A	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1517G>A	16.37:g.12223537G>A	ENSP00000456480:p.Arg506Gln					SNX29_uc010uyx.1_Missense_Mutation_p.R148Q	p.R121Q	NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN			6	418	+			121			Potential.		B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	c.362G>A	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973433	0.74246	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.72399	0.3455	M	0.74258	2.255	0.30052	N	0.811685	D	0.89917	1.0	D	0.79108	0.992	T	0.73011	-0.4117	9	0.72032	D	0.01	-21.262	16.3012	0.82816	0.0:0.0:1.0:0.0	.	506	Q8TEQ0	SNX29_HUMAN	Q	121	.	ENSP00000306940:R121Q	R	+	2	0	SNX29	12131038	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	8.737000	0.91562	2.434000	0.82447	0.563000	0.77884	CGG		0.607	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1				7	20	0	0	0	0.00308	0	7	20		
SRCAP	10847	broad.mit.edu	37	16	30718977	30718977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:30718977C>T	ENST00000262518.4	+	6	962	c.577C>T	c.(577-579)Cga>Tga	p.R193*	SRCAP_ENST00000395059.2_Nonsense_Mutation_p.R193*|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.R193*|SNORA30_ENST00000384028.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	193	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAAGCTGCGTCGAATTGCTTC	0.572																																						uc002dze.1		NaN																	0				ovary(3)|skin(1)	4						c.(577-579)CGA>TGA		Snf2-related CBP activator protein							140.0	96.0	111.0					16																	30718977		2197	4300	6497	SO:0001587	stop_gained	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30718977C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.577C>T	16.37:g.30718977C>T	ENSP00000262518:p.Arg193*					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Nonsense_Mutation_p.R50*|SRCAP_uc010bzz.1_5'Flank|SNORA30_uc002dzh.1_5'Flank	p.R193*	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		6	962	+			193			HSA.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Nonsense_Mutation	SNP	ENST00000262518.4	37	c.577C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579099	0.86645	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	.	.	.	5.29	0.761	0.18448	.	0.000000	0.41823	D	0.000804	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6503	14.2355	0.65925	0.5077:0.4923:0.0:0.0	.	.	.	.	X	193	.	ENSP00000262518:R193X	R	+	1	2	SRCAP	30626478	0.664000	0.27457	0.874000	0.34290	0.804000	0.45430	1.067000	0.30616	0.332000	0.23536	0.561000	0.74099	CGA		0.572	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1		NM_006662		15	57	0	0	0	0.028581	0	15	57		
SRCAP	10847	broad.mit.edu	37	16	30720939	30720939	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:30720939C>T	ENST00000262518.4	+	7	1124	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	SRCAP_ENST00000395059.2_Silent_p.L247L|SRCAP_ENST00000344771.4_Silent_p.L247L|SNORA30_ENST00000384028.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	247					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGGACCTTCTGTCTCAGAG	0.547																																						uc002dze.1		NaN																	0				ovary(3)|skin(1)	4						c.(739-741)CTG>TTG		Snf2-related CBP activator protein							101.0	92.0	95.0					16																	30720939		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30720939C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.739C>T	16.37:g.30720939C>T						SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.L104L|SRCAP_uc010bzz.1_5'Flank|SNORA30_uc002dzh.1_5'Flank	p.L247L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		7	1124	+			247					B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.739C>T	CCDS10689.2																																																																																				0.547	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1		NM_006662		32	92	0	0	0	0.012213	0	32	92		
RNF40	9810	broad.mit.edu	37	16	30774850	30774850	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:30774850C>G	ENST00000324685.6	+	4	847	c.412C>G	c.(412-414)Ctc>Gtc	p.L138V	RNF40_ENST00000563683.1_Missense_Mutation_p.L138V|C16orf93_ENST00000545825.1_5'Flank|RNF40_ENST00000402121.3_Intron|C16orf93_ENST00000543610.1_5'Flank|RNF40_ENST00000357890.5_Missense_Mutation_p.L138V|C16orf93_ENST00000541260.1_5'Flank	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	138					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TGGGACTCCTCTCCCAGAGCC	0.617																																						uc002dzq.2		NaN																	0				central_nervous_system(1)	1						c.(412-414)CTC>GTC		ring finger protein 40							38.0	40.0	39.0					16																	30774850		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30774850C>G	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.412C>G	16.37:g.30774850C>G	ENSP00000325677:p.Leu138Val					C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Missense_Mutation_p.L138V|RNF40_uc010cab.2_Missense_Mutation_p.L138V|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.L138V|RNF40_uc010vfb.1_Intron	p.L138V	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		4	535	+			138					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.412C>G	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.454338	0.01071	.	.	ENSG00000103549	ENST00000324685;ENST00000357890	T;T	0.30448	1.53;1.53	5.84	1.43	0.22495	.	0.917808	0.09309	N	0.819883	T	0.14485	0.0350	N	0.08118	0	0.19300	N	0.999973	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.27839	-1.0062	10	0.32370	T	0.25	-1.0683	5.5087	0.16868	0.1346:0.5303:0.2611:0.074	.	138;138;138	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	V	138	ENSP00000325677:L138V;ENSP00000350563:L138V	ENSP00000325677:L138V	L	+	1	0	RNF40	30682351	0.007000	0.16637	0.835000	0.33067	0.347000	0.29111	1.661000	0.37408	0.365000	0.24400	-0.253000	0.11424	CTC		0.617	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2		NM_014771		19	46	0	0	0	0.006122	0	19	46		
CKLF	51192	broad.mit.edu	37	16	66592158	66592158	+	Silent	SNP	C	C	T	rs202172549		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:66592158C>T	ENST00000264001.4	+	2	293	c.144C>T	c.(142-144)atC>atT	p.I48I	CKLF_ENST00000345436.4_Silent_p.I48I|CKLF_ENST00000351137.4_Intron|CKLF-CMTM1_ENST00000532838.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000563092.1_Intron|CKLF_ENST00000362093.4_Intron|CKLF_ENST00000417030.2_Silent_p.I48I	NM_016951.3	NP_058647.1	Q9UBR5	CKLF_HUMAN	chemokine-like factor	48	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell proliferation (GO:0008283)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|secretion by cell (GO:0032940)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chemokine activity (GO:0008009)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		ATATTGTTATCACTGGATTTG	0.353																																						uc002eow.2		NaN																	0					0						c.(142-144)ATC>ATT		chemokine-like factor isoform a							209.0	214.0	213.0					16																	66592158		2201	4300	6501	SO:0001819	synonymous_variant	51192				cell proliferation|lymphocyte chemotaxis|macrophage chemotaxis|neutrophil chemotaxis|secretion by cell	extracellular space|integral to membrane	chemokine activity	g.chr16:66592158C>T	AF096895	CCDS10806.1, CCDS10807.1, CCDS10808.1, CCDS10809.1, CCDS45502.1	16q22.1-q22.3	2008-02-05	2003-02-28	2003-03-07	ENSG00000217555	ENSG00000217555			13253	protein-coding gene	gene with protein product			"""chemokine-like factor 1"""	CKLF1		11042152, 11415443	Standard	NM_016326		Approved	UCK-1, CKLF3, CKLF4, HSPC224, C32		Q9UBR5	OTTHUMG00000137504	ENST00000264001.4:c.144C>T	16.37:g.66592158C>T						CKLF_uc002eox.1_Silent_p.I48I|CKLF_uc002eot.2_Silent_p.I48I|CKLF_uc002eou.2_Intron|CKLF_uc002eov.2_Intron	p.I48I	NM_016951	NP_058647	Q9UBR5	CKLF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)	2	291	+		Ovarian(137;0.0563)	48			Helical; (Potential).|MARVEL.		C9JE38|Q9UHM7|Q9UHN8|Q9UI41	Silent	SNP	ENST00000264001.4	37	c.144C>T	CCDS10807.1																																																																																				0.353	CKLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268816.2		NM_016326		10	51	0	0	0	0.008291	0	10	51		
TMED6	146456	broad.mit.edu	37	16	69385672	69385672	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:69385672C>A	ENST00000288025.3	-	0	40				RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_5'Flank	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6						transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						TTTCTGGAGCCTCCTCTGCAG	0.537																																						uc002exc.1		NaN																	0				ovary(1)	1						c.(-17--13)GAGGC>GATGC		transmembrane emp24 protein transport domain							35.0	35.0	35.0					16																	69385672		2198	4300	6498			146456				transport	endoplasmic reticulum membrane|integral to membrane		g.chr16:69385672C>A	BC020827	CCDS10878.1	16q22.1	2008-02-05			ENSG00000157315	ENSG00000157315			28331	protein-coding gene	gene with protein product						12477932	Standard	NM_144676		Approved	MGC23911	uc002exc.2	Q8WW62	OTTHUMG00000137571	ENST00000288025.3:c.-16G>T	16.37:g.69385672C>A								NM_144676	NP_653277	Q8WW62	TMED6_HUMAN			1	18	-								Q6UXN5	Translation_Start_Site	SNP	ENST00000288025.3	37	c.-15G>T	CCDS10878.1																																																																																				0.537	TMED6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268951.1		NM_144676		8	32	1	0	0.00448238	0.004482	0.00479366	8	32		
VPS9D1	9605	broad.mit.edu	37	16	89774351	89774351	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:89774351C>T	ENST00000389386.3	-	15	1938	c.1814G>A	c.(1813-1815)gGa>gAa	p.G605E	VPS9D1_ENST00000561976.1_Missense_Mutation_p.G535E	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	605	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										GCCCTCCTCTCCGATCAGGTA	0.622																																						uc002fom.1		NaN																	0					0						c.(1813-1815)GGA>GAA		chromosome 16 open reading frame 7							41.0	47.0	45.0					16																	89774351		2126	4244	6370	SO:0001583	missense	9605				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity	g.chr16:89774351C>T	AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.1814G>A	16.37:g.89774351C>T	ENSP00000374037:p.Gly605Glu					C16orf7_uc002fol.1_Missense_Mutation_p.G535E	p.G605E	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	15	1939	-		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	605			VPS9.			Missense_Mutation	SNP	ENST00000389386.3	37	c.1814G>A	CCDS42220.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728466	0.69074	.	.	ENSG00000075399	ENST00000389386	T	0.41400	1.0	5.24	5.24	0.73138	Vacuolar sorting protein 9 (2);	0.111106	0.64402	D	0.000009	T	0.71771	0.3379	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78645	-0.2123	10	0.87932	D	0	-3.2492	17.3971	0.87449	0.0:1.0:0.0:0.0	.	605	Q9Y2B5	CP007_HUMAN	E	605	ENSP00000374037:G605E	ENSP00000374037:G605E	G	-	2	0	C16orf7	88301852	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	6.256000	0.72473	2.468000	0.83385	0.561000	0.74099	GGA		0.622	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1		NM_004913		11	77	0	0	0	0.024245	0	11	77		
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|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)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)CGG>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	p.R248Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		54	34	0	0	0	0.01441	0	54	34		
GUCY2D	3000	broad.mit.edu	37	17	7917216	7917216	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr17:7917216G>A	ENST00000254854.4	+	12	2432	c.2282G>A	c.(2281-2283)cGg>cAg	p.R761Q		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	761	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				CAGAGGGTGCGGAGCCCCCCT	0.622																																						uc002gjt.2		NaN																	0				skin(1)	1						c.(2281-2283)CGG>CAG		guanylate cyclase 2D, membrane (retina-specific)							76.0	78.0	78.0					17																	7917216		2203	4300	6503	SO:0001583	missense	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7917216G>A	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.2282G>A	17.37:g.7917216G>A	ENSP00000254854:p.Arg761Gln						p.R761Q	NM_000180	NP_000171	Q02846	GUC2D_HUMAN			12	2356	+		Prostate(122;0.157)	761			Protein kinase.|Cytoplasmic (Potential).		Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	c.2282G>A	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109704	0.37242	.	.	ENSG00000132518	ENST00000254854	D	0.82619	-1.63	5.44	-5.28	0.02755	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.898770	0.09283	N	0.823427	T	0.71745	0.3376	L	0.48642	1.525	0.09310	N	1	B	0.19583	0.037	B	0.13407	0.009	T	0.58405	-0.7642	10	0.45353	T	0.12	.	5.9913	0.19465	0.447:0.0:0.3698:0.1832	.	761	Q02846	GUC2D_HUMAN	Q	761	ENSP00000254854:R761Q	ENSP00000254854:R761Q	R	+	2	0	GUCY2D	7857941	0.000000	0.05858	0.462000	0.27118	0.976000	0.68499	-0.284000	0.08422	-0.603000	0.05767	-0.345000	0.07892	CGG		0.622	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2				15	148	0	0	0	0.024245	0	15	148		
RAPGEFL1	51195	broad.mit.edu	37	17	38347663	38347663	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr17:38347663C>T	ENST00000456989.2	+	9	1024	c.978C>T	c.(976-978)caC>caT	p.H326H	RAPGEFL1_ENST00000544503.1_Silent_p.H320H|RAPGEFL1_ENST00000264644.6_Silent_p.H271H|RAPGEFL1_ENST00000436615.3_Silent_p.H271H			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	477					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AGGTCACGCACTGGGTGGCCA	0.682																																					Esophageal Squamous(28;274 750 6870 14218 42203)	uc010cwu.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(811-813)CAC>CAT		Rap guanine nucleotide exchange factor							11.0	14.0	13.0					17																	38347663		2173	4253	6426	SO:0001819	synonymous_variant	51195				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	g.chr17:38347663C>T	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"""Link guanine nucleotide exchange factor II"""		"""RAP guanine-nucleotide-exchange factor (GEF)-like 1"""				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.978C>T	17.37:g.38347663C>T						RAPGEFL1_uc010wfd.1_Silent_p.H207H	p.H271H	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN			9	1303	+			477			Ras-GEF.			Silent	SNP	ENST00000456989.2	37	c.813C>T																																																																																					0.682	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1		NM_016339		12	22	0	0	0	0.020292	0	12	22		
KRTAP4-11	653240	broad.mit.edu	37	17	39274427	39274427	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr17:39274427G>A	ENST00000391413.2	-	1	179	c.141C>T	c.(139-141)tcC>tcT	p.S47S		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	47	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGCAGCAGCTGGACACACAGC	0.677																																						uc002hvz.2		NaN																	0					0						c.(139-141)TCC>TCT		keratin associated protein 4-11							12.0	17.0	15.0					17																	39274427		690	1591	2281	SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274427G>A	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.141C>T	17.37:g.39274427G>A							p.S47S	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	180	-		Breast(137;0.000496)	47		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].|5.		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.141C>T	CCDS45675.1																																																																																				0.677	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1				14	194	0	0	0	0.0333	0	14	194		
DTNA	1837	broad.mit.edu	37	18	32418763	32418763	+	Silent	SNP	C	C	T	rs368913791		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr18:32418763C>T	ENST00000399113.3	+	12	1227	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	DTNA_ENST00000556414.3_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000269190.7_Silent_p.I410I|DTNA_ENST00000444659.1_Silent_p.I409I|DTNA_ENST00000269192.7_Silent_p.I118I|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000269191.6_Silent_p.I409I|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000348997.5_Silent_p.I406I|DTNA_ENST00000283365.9_Intron			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	409	Syntrophin-binding region.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.I409I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ATGTTCTCATCGGGTTGTATG	0.502																																						uc010dmn.1		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(1225-1227)ATC>ATT		dystrobrevin alpha isoform 1		C	,,,,,,,,,,,,,,	0,4406		0,0,2203	180.0	136.0	151.0		,,,,354,,,,1227,1227,,1218,,,	4.2	1.0	18		151	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,intron,coding-synonymous,intron,intron,intron,coding-synonymous,coding-synonymous,intron,coding-synonymous,intron,intron,intron	DTNA	NM_001198938.1,NM_001198939.1,NM_001198940.1,NM_001198941.1,NM_001198942.1,NM_001198943.1,NM_001198944.1,NM_001198945.1,NM_001390.4,NM_001391.5,NM_032975.3,NM_032978.6,NM_032979.4,NM_032980.3,NM_032981.4	,,,,,,,,,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,,,,,,,,,	,,,,118/453,,,,409/744,409/571,,406/568,,,	32418763	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32418763C>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1227C>T	18.37:g.32418763C>T						DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Intron|DTNA_uc002kxw.2_Intron|DTNA_uc010dmj.2_Intron|DTNA_uc002kxz.2_Intron|DTNA_uc002kxy.2_Intron|DTNA_uc010dml.2_Intron|DTNA_uc002kyb.3_Silent_p.I406I|DTNA_uc010dmm.2_Silent_p.I409I|DTNA_uc010xby.1_Intron|DTNA_uc010dmo.2_Intron|DTNA_uc002kyd.3_Intron|DTNA_uc010xbz.1_Silent_p.I118I|DTNA_uc010xca.1_Intron|DTNA_uc002kye.2_Intron	p.I409I	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			12	1228	+			409			Syntrophin-binding region.		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Silent	SNP	ENST00000399113.3	37	c.1227C>T	CCDS59311.1																																																																																				0.502	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2		NM_001390		6	83	0	0	0	0.021553	0	6	83		
SMAD7	4092	broad.mit.edu	37	18	46448082	46448082	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr18:46448082C>T	ENST00000262158.2	-	4	1227	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000591805.1_Missense_Mutation_p.R99Q|SMAD7_ENST00000589634.1_Missense_Mutation_p.R313Q	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	314	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|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)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					GATTTTGCTCCGCACCTTCTG	0.557																																						uc002ldg.2		NaN																	0					0						c.(940-942)CGG>CAG		SMAD family member 7							79.0	59.0	66.0					18																	46448082		2203	4300	6503	SO:0001583	missense	4092				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:46448082C>T	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"""SMADs"""	6773	protein-coding gene	gene with protein product		602932	"""MAD, mothers against decapentaplegic homolog 7 (Drosophila)"", ""SMAD, mothers against DPP homolog 7 (Drosophila)"""	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.941G>A	18.37:g.46448082C>T	ENSP00000262158:p.Arg314Gln					SMAD7_uc002ldf.2_Missense_Mutation_p.R126Q|SMAD7_uc010xde.1_Missense_Mutation_p.R99Q	p.R314Q	NM_005904	NP_005895	O15105	SMAD7_HUMAN			4	1228	-	Colorectal(1;0.0518)		314			MH2.		B7Z773|K7EQ10|O14740|Q6DK23	Missense_Mutation	SNP	ENST00000262158.2	37	c.941G>A	CCDS11936.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706270	0.89018	.	.	ENSG00000101665	ENST00000545051;ENST00000262158	D	0.99685	-6.4	5.66	5.66	0.87406	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99746	0.9899	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.97660	1.0160	10	0.87932	D	0	.	19.7417	0.96234	0.0:1.0:0.0:0.0	.	314;126	O15105;B3KYA8	SMAD7_HUMAN;.	Q	99;314	ENSP00000262158:R314Q	ENSP00000262158:R314Q	R	-	2	0	SMAD7	44702080	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.818000	0.86416	2.658000	0.90341	0.591000	0.81541	CGG		0.557	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1		NM_005904		21	60	0	0	0	0.012319	0	21	60		
CXXC1	30827	broad.mit.edu	37	18	47812525	47812525	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr18:47812525C>T	ENST00000285106.6	-	4	1040	c.326G>A	c.(325-327)cGc>cAc	p.R109H	CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.R109H|CXXC1_ENST00000589940.1_Missense_Mutation_p.R109H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	109					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						AGGCCTCTTGCGCCCTCCACC	0.642																																						uc002leq.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(325-327)CGC>CAC		CXXC finger 1 (PHD domain) isoform 2							85.0	94.0	91.0					18																	47812525		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47812525C>T	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.326G>A	18.37:g.47812525C>T	ENSP00000285106:p.Arg109His					CXXC1_uc002lep.3_5'UTR|CXXC1_uc002ler.3_Missense_Mutation_p.R109H|CXXC1_uc010doy.2_Missense_Mutation_p.R109H|CXXC1_uc002les.2_Missense_Mutation_p.R109H	p.R109H	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN			4	1059	-			109					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.326G>A	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222085	0.39300	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.23754	1.89;1.89	3.58	2.61	0.31194	.	0.174132	0.47852	D	0.000215	T	0.18425	0.0442	N	0.19112	0.55	0.30047	N	0.812064	D;P;D;P	0.67145	0.996;0.93;0.958;0.93	P;B;B;B	0.48030	0.564;0.072;0.151;0.072	T	0.03969	-1.0988	10	0.48119	T	0.1	-14.8034	8.3052	0.32038	0.0:0.7554:0.2446:0.0	.	109;109;109;109	B4DGL1;B2RC03;Q9P0U4-2;Q9P0U4	.;.;.;CXXC1_HUMAN	H	109	ENSP00000285106:R109H;ENSP00000390475:R109H	ENSP00000285106:R109H	R	-	2	0	CXXC1	46066523	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.587000	0.23909	2.033000	0.60031	0.442000	0.29010	CGC		0.642	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2		NM_014593		56	126	0	0	0	0.01441	0	56	126		
DOK6	220164	broad.mit.edu	37	18	67365704	67365704	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr18:67365704G>A	ENST00000382713.5	+	5	664	c.474G>A	c.(472-474)caG>caA	p.Q158Q	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	158	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GCACAATGCAGATCACTCATG	0.438																																						uc002lkl.2		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(472-474)CAG>CAA		docking protein 6							128.0	108.0	115.0					18																	67365704		2203	4300	6503	SO:0001819	synonymous_variant	220164						insulin receptor binding	g.chr18:67365704G>A	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.474G>A	18.37:g.67365704G>A							p.Q158Q	NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN			5	664	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	158			IRS-type PTB.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Silent	SNP	ENST00000382713.5	37	c.474G>A	CCDS32841.1																																																																																				0.438	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1		NM_152721		17	46	0	0	0	0.006122	0	17	46		
SMARCA4	6597	broad.mit.edu	37	19	11141426	11141426	+	Missense_Mutation	SNP	C	C	T	rs11537676		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:11141426C>T	ENST00000429416.3	+	26	3684	c.3403C>T	c.(3403-3405)Cgg>Tgg	p.R1135W	SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1135W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1135W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1135W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1135W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1135W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1135W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1135W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1135W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1135	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R1135W(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCGGAGGACCGGGGCATGCT	0.632			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NaN		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		2	Substitution - Missense(1)|Unknown(1)		lung(1)|central_nervous_system(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(3403-3405)CGG>TGG		SWI/SNF-related matrix-associated							30.0	33.0	32.0					19																	11141426		2203	4299	6502	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11141426C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3403C>T	19.37:g.11141426C>T	ENSP00000395654:p.Arg1135Trp					SMARCA4_uc010dxp.2_Missense_Mutation_p.R1135W|SMARCA4_uc010dxo.2_Missense_Mutation_p.R1135W|SMARCA4_uc002mqg.1_Missense_Mutation_p.R1135W|SMARCA4_uc010dxq.2_Missense_Mutation_p.R1135W|SMARCA4_uc010dxr.2_Missense_Mutation_p.R1135W|SMARCA4_uc002mqj.3_Missense_Mutation_p.R1135W|SMARCA4_uc010dxs.2_Missense_Mutation_p.R1135W|SMARCA4_uc010dxt.1_Missense_Mutation_p.R355W|SMARCA4_uc002mqh.3_Missense_Mutation_p.R258W|SMARCA4_uc002mqi.1_Missense_Mutation_p.R338W	p.R1135W	NM_003072	NP_003063	P51532	SMCA4_HUMAN			25	3687	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1135			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3403C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.417837	0.83449	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	4.59	4.59	0.56863	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.98040	0.9354	H	0.99982	5.205	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99293	1.0899	10	0.87932	D	0	-44.6269	16.3247	0.82975	0.0:1.0:0.0:0.0	rs11537676;rs17355680	1135;1135;1135;1135;1135;355;1135;1135	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	W	1135;1135;1199;1135;1135;1135;1135;1135	ENSP00000395654:R1135W;ENSP00000350720:R1135W;ENSP00000343896:R1135W;ENSP00000445036:R1135W;ENSP00000392837:R1135W;ENSP00000397783:R1135W;ENSP00000414727:R1135W	ENSP00000343896:R1135W	R	+	1	2	SMARCA4	11002426	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.673000	0.54591	2.389000	0.81357	0.563000	0.77884	CGG		0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		NM_003072		4	27	0	0	0	0.014758	0	4	27		
ANO8	57719	broad.mit.edu	37	19	17435648	17435648	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:17435648C>T	ENST00000159087.4	-	17	3367	c.3209G>A	c.(3208-3210)gGc>gAc	p.G1070D		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	1070					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGCCTGCCCGCCCGCCCCGTT	0.711																																						uc002ngf.2		NaN																	0				ovary(3)	3						c.(3208-3210)GGC>GAC		anoctamin 8							25.0	33.0	30.0					19																	17435648		2200	4288	6488	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17435648C>T	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.3209G>A	19.37:g.17435648C>T	ENSP00000159087:p.Gly1070Asp					ANO8_uc010eap.2_RNA	p.G1070D	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN			17	3368	-			1070			Extracellular (Potential).		A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.3209G>A	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.459763	0.26248	.	.	ENSG00000074855	ENST00000159087	T	0.62232	0.04	3.63	-0.335	0.12662	.	0.487253	0.20726	U	0.086818	T	0.41650	0.1168	L	0.48642	1.525	0.20563	N	0.999887	P	0.37864	0.61	B	0.30029	0.11	T	0.35301	-0.9794	10	0.13853	T	0.58	.	6.3622	0.21435	0.3336:0.3387:0.3277:0.0	.	1070	Q9HCE9	ANO8_HUMAN	D	1070	ENSP00000159087:G1070D	ENSP00000159087:G1070D	G	-	2	0	ANO8	17296648	0.040000	0.19996	0.074000	0.20217	0.793000	0.44817	0.828000	0.27435	-0.327000	0.08551	0.297000	0.19635	GGC		0.711	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1		XM_050644		15	99	0	0	0	0.024245	0	15	99		
TSHZ3	57616	broad.mit.edu	37	19	31770237	31770237	+	Silent	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:31770237A>G	ENST00000240587.4	-	2	789	c.462T>C	c.(460-462)agT>agC	p.S154S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	154	Ser-rich.				in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgctgctgctactgctgctgc	0.607																																						uc002nsy.3		NaN																	0				ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(460-462)AGT>AGC		zinc finger protein 537							39.0	44.0	42.0					19																	31770237		2184	4294	6478	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770237A>G	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.462T>C	19.37:g.31770237A>G							p.S154S	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	527	-	Esophageal squamous(110;0.226)		154			Ser-rich.		Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.462T>C	CCDS12421.2																																																																																				0.607	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2		NM_020856		6	265	0	0	0	0.00308	0	6	265		
CD22	933	broad.mit.edu	37	19	35837577	35837577	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:35837577G>A	ENST00000085219.5	+	14	2587	c.2521G>A	c.(2521-2523)Gac>Aac	p.D841N	CD22_ENST00000270311.6_Missense_Mutation_p.D656N|CD22_ENST00000544992.2_3'UTR|CD22_ENST00000594250.1_Missense_Mutation_p.D664N|CD22_ENST00000536635.2_Missense_Mutation_p.D753N|CD22_ENST00000341773.6_Missense_Mutation_p.D664N|CD22_ENST00000419549.2_Missense_Mutation_p.D669N|MIR5196_ENST00000578146.1_RNA	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	841					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGAAAATGTGGACTATGTGAT	0.562																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.2		NaN																	0				ovary(5)|lung(3)|breast(1)	9						c.(2521-2523)GAC>AAC		CD22 molecule precursor	OspA lipoprotein(DB00045)						56.0	47.0	50.0					19																	35837577		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35837577G>A	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2521G>A	19.37:g.35837577G>A	ENSP00000085219:p.Asp841Asn					CD22_uc010xst.1_Missense_Mutation_p.D669N|CD22_uc010edu.2_Missense_Mutation_p.D753N|CD22_uc010edv.2_3'UTR|CD22_uc002nzb.3_Missense_Mutation_p.D664N|CD22_uc010edx.2_RNA	p.D841N	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		14	2598	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		841			ITIM motif 4.|Cytoplasmic (Potential).		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.2521G>A	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167573	0.57476	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000270311;ENST00000419549	T;T;T;T;T	0.56103	0.94;0.54;0.48;0.74;1.02	4.58	4.58	0.56647	.	0.381500	0.22287	N	0.062041	T	0.66528	0.2798	L	0.60455	1.87	0.36238	D	0.85306	P;D;D;D	0.71674	0.919;0.99;0.958;0.998	P;P;P;D	0.68621	0.477;0.904;0.477;0.959	T	0.74526	-0.3636	10	0.72032	D	0.01	.	12.8196	0.57685	0.0:0.0:1.0:0.0	.	669;753;841;664	Q32M46;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	N	841;753;664;656;669	ENSP00000085219:D841N;ENSP00000442279:D753N;ENSP00000339349:D664N;ENSP00000270311:D656N;ENSP00000403822:D669N	ENSP00000085219:D841N	D	+	1	0	CD22	40529417	1.000000	0.71417	0.775000	0.31657	0.046000	0.14306	4.196000	0.58407	2.410000	0.81850	0.461000	0.40582	GAC		0.562	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1		NM_001771		8	13	0	0	0	0.004482	0	8	13		
ZFP82	284406	broad.mit.edu	37	19	36896541	36896541	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:36896541G>A	ENST00000392161.3	-	4	412	c.170C>T	c.(169-171)tCa>tTa	p.S57L	ZFP82_ENST00000392171.1_Intron	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTGCTCCAATGAGGAAATCAC	0.383																																						uc002ody.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(169-171)TCA>TTA		zinc finger protein 82 homolog							114.0	101.0	106.0					19																	36896541		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36896541G>A	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.170C>T	19.37:g.36896541G>A	ENSP00000431265:p.Ser57Leu						p.S57L	NM_133466	NP_597723	Q8N141	ZFP82_HUMAN			4	405	-			57			KRAB.		Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.170C>T	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	1.624	-0.520768	0.04171	.	.	ENSG00000181007	ENST00000392161	T	0.00717	5.79	4.06	3.05	0.35203	Krueppel-associated box (3);	0.340466	0.16694	N	0.203425	T	0.00328	0.0010	N	0.00746	-1.225	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51284	-0.8725	9	.	.	.	.	6.5485	0.22420	0.8912:0.0:0.1088:0.0	.	57	Q8N141	ZFP82_HUMAN	L	57	ENSP00000431265:S57L	.	S	-	2	0	ZFP82	41588381	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	1.995000	0.40767	0.890000	0.36211	-0.294000	0.09567	TCA		0.383	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2		NM_133466		62	101	0	0	0	0.01441	0	62	101		
ZNF529	57711	broad.mit.edu	37	19	37037947	37037947	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:37037947G>A	ENST00000591340.1	-	5	1671	c.1513C>T	c.(1513-1515)Ccc>Tcc	p.P505S	ZNF529_ENST00000334116.7_Missense_Mutation_p.P400S	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	505					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	Esophageal squamous(110;0.198)					CATTCATAGGGTTTTTCTCCA	0.403																																						uc002oeh.3		NaN																	0				breast(1)	1						c.(1513-1515)CCC>TCC		zinc finger protein 529 isoform a							65.0	71.0	69.0					19																	37037947		2196	4298	6494	SO:0001583	missense	57711				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37037947G>A	AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.1513C>T	19.37:g.37037947G>A	ENSP00000465578:p.Pro505Ser					ZNF529_uc010xth.1_Missense_Mutation_p.P505S|ZNF529_uc010xti.1_Missense_Mutation_p.P487S|ZNF529_uc002oeg.3_Missense_Mutation_p.P400S	p.P505S	NM_020951	NP_066002	Q6P280	ZN529_HUMAN			5	1715	-	Esophageal squamous(110;0.198)		472					K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP	ENST00000591340.1	37	c.1513C>T	CCDS54256.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195075	0.58017	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.29	3.29	0.37713	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.72930	0.3522	M	0.72479	2.2	0.34453	D	0.700854	D;D	0.89917	1.0;1.0	D;D	0.74348	0.98;0.983	T	0.82216	-0.0567	8	0.72032	D	0.01	.	13.4498	0.61163	0.0:0.0:1.0:0.0	.	400;472	Q6P280-2;Q6P280	.;ZN529_HUMAN	S	505	.	ENSP00000334695:P505S	P	-	1	0	ZNF529	41729787	1.000000	0.71417	0.995000	0.50966	0.433000	0.31745	5.732000	0.68563	1.656000	0.50722	0.591000	0.81541	CCC		0.403	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1		NM_020951		4	19	0	0	0	0.009096	0	4	19		
SIGLEC12	89858	broad.mit.edu	37	19	52002805	52002805	+	Missense_Mutation	SNP	G	G	A	rs149053840		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:52002805G>A	ENST00000291707.3	-	3	1029	c.974C>T	c.(973-975)tCg>tTg	p.S325L	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.S207L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	325	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCTGAGCATCGAGGAGCGAGT	0.667																																						uc002pwx.1		NaN																	0				ovary(3)|skin(2)	5						c.(973-975)TCG>TTG		sialic acid binding immunoglobulin-like		G	LEU/SER,LEU/SER	0,4406		0,0,2203	67.0	56.0	60.0		620,974	-1.9	0.0	19	dbSNP_134	60	1,8599		0,1,4299	no	missense,missense	SIGLEC12	NM_033329.1,NM_053003.2	145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	207/478,325/596	52002805	1,13005	2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52002805G>A	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.974C>T	19.37:g.52002805G>A	ENSP00000291707:p.Ser325Leu					SIGLEC12_uc002pww.1_Missense_Mutation_p.S207L|SIGLEC12_uc010eoy.1_Missense_Mutation_p.S52L	p.S325L	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	3	1030	-		all_neural(266;0.0199)	325			Ig-like C2-type 1.|Extracellular (Potential).		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.974C>T	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	12.28	1.891905	0.33442	0.0	1.16E-4	ENSG00000254521	ENST00000291707	D	0.84516	-1.86	2.22	-1.86	0.07760	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35805	N	0.002978	D	0.89787	0.6816	M	0.90650	3.135	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	T	0.79371	-0.1831	10	0.33940	T	0.23	.	3.012	0.06047	0.312:0.2346:0.4534:0.0	.	325;207	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	L	325	ENSP00000291707:S325L	ENSP00000291707:S325L	S	-	2	0	SIGLEC12	56694617	0.046000	0.20272	0.001000	0.08648	0.001000	0.01503	1.195000	0.32186	-0.465000	0.06953	-1.244000	0.01528	TCG		0.667	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2		NM_053003		12	89	0	0	0	0.010729	0	12	89		
ZNF471	57573	broad.mit.edu	37	19	57035702	57035702	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:57035702C>T	ENST00000308031.5	+	5	399	c.266C>T	c.(265-267)tCt>tTt	p.S89F	ZNF471_ENST00000591537.1_Intron|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	89					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GATTGGGAATCTATATATGTG	0.333																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	uc002qnh.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(265-267)TCT>TTT		zinc finger protein 471							66.0	65.0	65.0					19																	57035702		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57035702C>T	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.266C>T	19.37:g.57035702C>T	ENSP00000309161:p.Ser89Phe						p.S89F	NM_020813	NP_065864	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	399	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	89					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.266C>T	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	C	5.760	0.324585	0.10900	.	.	ENSG00000196263	ENST00000308031	T	0.06068	3.35	3.34	1.03	0.20045	.	.	.	.	.	T	0.05868	0.0153	L	0.58510	1.815	0.58432	D	0.999999	P	0.36199	0.543	B	0.24974	0.057	T	0.43212	-0.9405	9	0.19147	T	0.46	.	11.0178	0.47701	0.0:0.4201:0.5799:0.0	.	89	Q9BX82	ZN471_HUMAN	F	89	ENSP00000309161:S89F	ENSP00000309161:S89F	S	+	2	0	ZNF471	61727514	0.002000	0.14202	0.096000	0.21009	0.818000	0.46254	0.067000	0.14510	0.364000	0.24374	0.563000	0.77884	TCT		0.333	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1		NM_020813		13	72	0	0	0	0.024245	0	13	72		
ZNF586	54807	broad.mit.edu	37	19	58290574	58290574	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:58290574G>C	ENST00000396154.2	+	3	792	c.619G>C	c.(619-621)Gaa>Caa	p.E207Q	ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396150.4_Missense_Mutation_p.M164I|ZNF586_ENST00000391702.3_Missense_Mutation_p.E164Q	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAGCGTTATGAATGCAATGA	0.428																																						uc002qqd.2		NaN																	0				ovary(2)	2						c.(619-621)GAA>CAA		zinc finger protein 586							110.0	113.0	112.0					19																	58290574		2178	4295	6473	SO:0001583	missense	54807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58290574G>C	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.619G>C	19.37:g.58290574G>C	ENSP00000379458:p.Glu207Gln					ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Missense_Mutation_p.M164I|ZNF586_uc010euh.2_Missense_Mutation_p.E164Q|ZNF586_uc002qqf.1_Intron	p.E207Q	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	805	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	207			C2H2-type 5.		A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	ENST00000396154.2	37	c.619G>C	CCDS42640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.85|10.85	1.466544|1.466544	0.26335|0.26335	.|.	.|.	ENSG00000083828|ENSG00000083828	ENST00000449441;ENST00000391702;ENST00000396154|ENST00000396150	T;T|T	0.07444|0.05786	3.19;3.19|3.39	1.56|1.56	-1.45|-1.45	0.08828|0.08828	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.05044|0.05044	0.0135|0.0135	N|N	0.20304|0.20304	0.555|0.555	0.09310|0.09310	N|N	1|1	D|P	0.76494|0.36110	0.999|0.537	D|B	0.79108|0.43251	0.992|0.413	T|T	0.40794|0.40794	-0.9544|-0.9544	9|9	0.48119|0.39692	T|T	0.1|0.17	.|.	3.9661|3.9661	0.09433|0.09433	0.2897:0.1945:0.5158:0.0|0.2897:0.1945:0.5158:0.0	.|.	207|164	Q9NXT0|A0JLV8	ZN586_HUMAN|.	Q|I	207;164;207|164	ENSP00000375583:E164Q;ENSP00000379458:E207Q|ENSP00000379454:M164I	ENSP00000375583:E164Q|ENSP00000379454:M164I	E|M	+|+	1|3	0|0	ZNF586|ZNF586	62982386|62982386	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.007000|0.007000	0.05969|0.05969	-4.243000|-4.243000	0.00267|0.00267	-0.539000|-0.539000	0.06273|0.06273	-0.216000|-0.216000	0.12614|0.12614	GAA|ATG		0.428	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2		NM_017652		7	150	0	0	0	0.02938	0	7	150		
ZNF586	54807	broad.mit.edu	37	19	58290633	58290633	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:58290633G>C	ENST00000396154.2	+	3	851	c.678G>C	c.(676-678)agG>agC	p.R226S	ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396150.4_Missense_Mutation_p.G184A|ZNF586_ENST00000391702.3_Missense_Mutation_p.R183S	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACACAGGAGGATTCACACTG	0.418																																						uc002qqd.2		NaN																	0				ovary(2)	2						c.(676-678)AGG>AGC		zinc finger protein 586							112.0	118.0	116.0					19																	58290633		2200	4300	6500	SO:0001583	missense	54807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58290633G>C	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.678G>C	19.37:g.58290633G>C	ENSP00000379458:p.Arg226Ser					ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Missense_Mutation_p.G184A|ZNF586_uc010euh.2_Missense_Mutation_p.R183S|ZNF586_uc002qqf.1_Intron	p.R226S	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	864	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	226			C2H2-type 5.		A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	ENST00000396154.2	37	c.678G>C	CCDS42640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.90|10.90	1.479998|1.479998	0.26598|0.26598	.|.	.|.	ENSG00000083828|ENSG00000083828	ENST00000396150|ENST00000449441;ENST00000391702;ENST00000396154	T|T;T	0.08282|0.24151	3.11|1.87;1.87	1.65|1.65	0.335|0.335	0.15953|0.15953	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.35711|0.35711	0.0941|0.0941	L|L	0.58925|0.58925	1.835|1.835	0.09310|0.09310	N|N	1|1	B|P	0.27316|0.36616	0.175|0.561	B|P	0.34722|0.51918	0.188|0.684	T|T	0.39840|0.39840	-0.9594|-0.9594	9|9	0.25751|0.66056	T|D	0.34|0.02	.|.	5.1354|5.1354	0.14932|0.14932	0.655:0.0:0.345:0.0|0.655:0.0:0.345:0.0	.|.	184|226	A0JLV8|Q9NXT0	.|ZN586_HUMAN	A|S	184|226;183;226	ENSP00000379454:G184A|ENSP00000375583:R183S;ENSP00000379458:R226S	ENSP00000379454:G184A|ENSP00000375583:R183S	G|R	+|+	2|3	0|2	ZNF586|ZNF586	62982445|62982445	0.000000|0.000000	0.05858|0.05858	0.011000|0.011000	0.14972|0.14972	0.009000|0.009000	0.06853|0.06853	-1.328000|-1.328000	0.02680|0.02680	-0.074000|-0.074000	0.12820|0.12820	-0.290000|-0.290000	0.09829|0.09829	GGA|AGG		0.418	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2		NM_017652		10	157	0	0	0	0.010729	0	10	157		
PROKR1	10887	broad.mit.edu	37	2	68882436	68882436	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:68882436A>C	ENST00000303786.3	+	3	1330	c.910A>C	c.(910-912)Acc>Ccc	p.T304P	PROKR1_ENST00000394342.2_Missense_Mutation_p.T304P			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	304					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTACGGCTTCACCATCGTGCG	0.587																																						uc010yqj.1		NaN																	0				ovary(1)	1						c.(910-912)ACC>CCC		G protein-coupled receptor 73							139.0	105.0	116.0					2																	68882436		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882436A>C	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.910A>C	2.37:g.68882436A>C	ENSP00000303775:p.Thr304Pro					PROKR1_uc002ses.2_RNA	p.T304P	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN			2	910	+			304			Extracellular (Potential).		A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.910A>C	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.386043	0.61956	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.37915	1.17;1.17	4.68	2.33	0.28932	GPCR, rhodopsin-like superfamily (1);	0.182497	0.64402	D	0.000013	T	0.44891	0.1315	M	0.66439	2.03	0.40365	D	0.97928	B	0.29552	0.248	P	0.46850	0.529	T	0.34950	-0.9808	10	0.33940	T	0.23	.	6.3818	0.21540	0.7197:0.0:0.2803:0.0	.	304	Q8TCW9	PKR1_HUMAN	P	304	ENSP00000303775:T304P;ENSP00000377874:T304P	ENSP00000303775:T304P	T	+	1	0	PROKR1	68735940	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	2.292000	0.43549	0.539000	0.28788	0.533000	0.62120	ACC		0.587	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2				11	93	0	0	0	0.010729	0	11	93		
FBXO41	150726	broad.mit.edu	37	2	73492583	73492583	+	Missense_Mutation	SNP	C	C	T	rs375457673		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:73492583C>T	ENST00000521871.1	-	5	1806	c.1391G>A	c.(1390-1392)cGc>cAc	p.R464H	FBXO41_ENST00000295133.5_Missense_Mutation_p.R525H|FBXO41_ENST00000520530.2_Missense_Mutation_p.R464H			Q8TF61	FBX41_HUMAN	F-box protein 41	464										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GATGGCCTGGCGCCGCAGGCC	0.701																																						uc002sjb.1		NaN																	0				breast(2)|pancreas(1)	3						c.(1573-1575)CGC>CAC		F-box protein 41		C	HIS/ARG	0,4008		0,0,2004	19.0	23.0	22.0		1391	5.5	1.0	2		22	1,8313		0,1,4156	no	missense	FBXO41	NM_001080410.2	29	0,1,6160	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	464/876	73492583	1,12321	2004	4157	6161	SO:0001583	missense	150726					intracellular	protein binding|zinc ion binding	g.chr2:73492583C>T	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.1391G>A	2.37:g.73492583C>T	ENSP00000428646:p.Arg464His						p.R525H	NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN			5	1574	-			464					G3V0Z7|Q2M1V8	Missense_Mutation	SNP	ENST00000521871.1	37	c.1574G>A	CCDS46337.2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904559	0.92035	0.0	1.2E-4	ENSG00000163013	ENST00000295133;ENST00000521871	.	.	.	5.51	5.51	0.81932	.	0.119241	0.51477	D	0.000092	T	0.67608	0.2911	L	0.44542	1.39	0.48571	D	0.999671	D	0.76494	0.999	P	0.60117	0.869	T	0.69412	-0.5152	9	0.66056	D	0.02	.	17.9923	0.89172	0.0:1.0:0.0:0.0	.	464	Q8TF61	FBX41_HUMAN	H	525;464	.	ENSP00000295133:R525H	R	-	2	0	FBXO41	73346091	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.057000	0.64294	2.612000	0.88384	0.650000	0.86243	CGC		0.701	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1				3	29	0	0	0	0.004672	0	3	29		
WBP1	23559	broad.mit.edu	37	2	74687437	74687437	+	Missense_Mutation	SNP	C	C	T	rs201448542		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:74687437C>T	ENST00000233615.2	+	4	713	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	WBP1_ENST00000393972.3_Missense_Mutation_p.R181C|WBP1_ENST00000409737.1_Missense_Mutation_p.R144C|WBP1_ENST00000494741.1_3'UTR|MOGS_ENST00000462443.1_5'Flank	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	147							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GGCCCCAGGCCGCCCCTTGAC	0.602																																						uc002slj.1		NaN																	0					0						c.(439-441)CGC>TGC		WW domain binding protein 1							67.0	74.0	72.0					2																	74687437		2203	4300	6503	SO:0001583	missense	23559						WW domain binding	g.chr2:74687437C>T	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.439C>T	2.37:g.74687437C>T	ENSP00000233615:p.Arg147Cys					WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|WBP1_uc002slk.1_Missense_Mutation_p.R144C|WBP1_uc002sll.1_RNA	p.R147C	NM_012477	NP_036609	Q96G27	WBP1_HUMAN			4	592	+			147					B2RE02|O95637	Missense_Mutation	SNP	ENST00000233615.2	37	c.439C>T	CCDS1943.1	.	.	.	.	.	.	.	.	.	.	C	1.137	-0.650572	0.03506	.	.	ENSG00000239779	ENST00000233615;ENST00000393972;ENST00000409737;ENST00000428943	.	.	.	4.92	-2.22	0.06952	.	.	.	.	.	T	0.10294	0.0252	N	0.00538	-1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32877	-0.9890	8	0.31617	T	0.26	0.7179	9.4841	0.38919	0.0:0.3662:0.0:0.6338	.	144;147	B8ZZ95;Q96G27	.;WBP1_HUMAN	C	147;181;144;206	.	ENSP00000233615:R147C	R	+	1	0	WBP1	74540945	0.000000	0.05858	0.350000	0.25708	0.063000	0.16089	0.175000	0.16762	-0.400000	0.07656	-0.768000	0.03414	CGC		0.602	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2		NM_012477		51	247	0	0	0	0.01441	0	51	247		
SLC4A10	57282	broad.mit.edu	37	2	162820755	162820755	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:162820755G>A	ENST00000446997.1	+	22	3066	c.2973G>A	c.(2971-2973)atG>atA	p.M991I	SLC4A10_ENST00000375514.5_Missense_Mutation_p.M972I|SLC4A10_ENST00000421911.1_Missense_Mutation_p.M991I|SLC4A10_ENST00000415876.2_Missense_Mutation_p.M961I|SLC4A10_ENST00000272716.5_Missense_Mutation_p.M961I	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	991					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)	TTATTCAGATGAGTTGCCTTG	0.393																																						uc002ubx.3		NaN																	0				ovary(2)|lung(2)|pancreas(1)	5						c.(2971-2973)ATG>ATA		solute carrier family 4, sodium bicarbonate							108.0	96.0	100.0					2																	162820755		1832	4100	5932	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162820755G>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.2973G>A	2.37:g.162820755G>A	ENSP00000393066:p.Met991Ile					SLC4A10_uc002uby.3_Missense_Mutation_p.M961I|SLC4A10_uc010zcs.1_Missense_Mutation_p.M972I	p.M991I	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			22	3157	+			991			Extracellular (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.2973G>A	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975941	0.34848	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.76316	-1.0;-1.0;-1.0;-1.0;-1.01	5.43	3.62	0.41486	.	0.121073	0.56097	D	0.000023	T	0.47414	0.1444	N	0.00841	-1.15	0.39530	D	0.968646	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.13407	0.009;0.009;0.0	T	0.43572	-0.9383	10	0.27785	T	0.31	.	11.3069	0.49340	0.1465:0.0:0.8535:0.0	.	972;961;991	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	I	972;961;961;960;991;991;990	ENSP00000364664:M972I;ENSP00000395797:M961I;ENSP00000272716:M961I;ENSP00000393066:M991I;ENSP00000404486:M991I	ENSP00000272716:M961I	M	+	3	0	SLC4A10	162529001	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.959000	0.49153	1.281000	0.44480	0.655000	0.94253	ATG		0.393	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1		NM_022058		3	23	0	0	0	0.009096	0	3	23		
TTN	7273	broad.mit.edu	37	2	179408943	179408943	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:179408943G>T	ENST00000591111.1	-	295	91314	c.91090C>A	c.(91090-91092)Ccc>Acc	p.P30364T	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P22940T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P23132T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P32005T|TTN_ENST00000359218.5_Missense_Mutation_p.P23065T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P29437T			Q8WZ42	TITIN_HUMAN	titin	30364	Fibronectin type-III 121. {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)			CTTTCCACGGGCTCAATTTCA	0.388																																						uc010zfg.1		NaN																	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.(88309-88311)CCC>ACC		titin isoform N2-A							79.0	76.0	77.0					2																	179408943		1852	4092	5944	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179408943G>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.91090C>A	2.37:g.179408943G>T	ENSP00000465570:p.Pro30364Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P23132T|TTN_uc010zfi.1_Missense_Mutation_p.P23065T|TTN_uc010zfj.1_Missense_Mutation_p.P22940T	p.P29437T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		294	88533	-			30364					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.88309C>A		.	.	.	.	.	.	.	.	.	.	G	12.04	1.819841	0.32145	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62232	0.04;0.28;0.25;0.25	6.04	6.04	0.98038	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.81931	0.4927	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.69078	0.995;0.995;0.995;0.997	P;P;P;P	0.61874	0.82;0.82;0.82;0.895	D	0.83759	0.0213	9	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	22940;23065;23132;30364	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	29437;22940;23132;23065;22937	ENSP00000343764:P29437T;ENSP00000434586:P22940T;ENSP00000340554:P23132T;ENSP00000352154:P23065T	ENSP00000340554:P23132T	P	-	1	0	TTN	179117189	1.000000	0.71417	1.000000	0.80357	0.166000	0.22503	7.876000	0.87215	2.873000	0.98535	0.561000	0.74099	CCC		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		7	54	1	0	0.00307968	0.00308	0.00331658	7	54		
TTN	7273	broad.mit.edu	37	2	179591911	179591911	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:179591911C>T	ENST00000591111.1	-	67	19454	c.19230G>A	c.(19228-19230)atG>atA	p.M6410I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.M6727I|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.M5483I|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13181	Ig-like 45.				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)			TGAGATTGTTCATCTGTATGA	0.453																																						uc010zfg.1		NaN																	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.(16447-16449)ATG>ATA		titin isoform N2-A							113.0	107.0	109.0					2																	179591911		1911	4147	6058	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179591911C>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.19230G>A	2.37:g.179591911C>T	ENSP00000465570:p.Met6410Ile					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.M2144I	p.M5483I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		66	16673	-			6410					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.16449G>A		.	.	.	.	.	.	.	.	.	.	C	9.192	1.026210	0.19512	.	.	ENSG00000155657	ENST00000342992	T	0.49432	0.78	6.03	5.15	0.70609	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.21227	0.0511	N	0.01168	-0.975	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.07635	-1.0762	9	0.87932	D	0	.	10.0226	0.42053	0.1374:0.7939:0.0:0.0686	.	6410	Q8WZ42	TITIN_HUMAN	I	5483	ENSP00000343764:M5483I	ENSP00000343764:M5483I	M	-	3	0	TTN	179300156	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.118000	0.31246	1.541000	0.49316	0.655000	0.94253	ATG		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		5	78	0	0	0	0.014758	0	5	78		
ZNF804A	91752	broad.mit.edu	37	2	185801399	185801399	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:185801399G>T	ENST00000302277.6	+	4	1870	c.1276G>T	c.(1276-1278)Gta>Tta	p.V426L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	426							metal ion binding (GO:0046872)	p.V426I(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAGCCATTTGTACCTGTCCT	0.373																																						uc002uph.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1276-1278)GTA>TTA		zinc finger protein 804A							122.0	130.0	127.0					2																	185801399		2203	4299	6502	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801399G>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1276G>T	2.37:g.185801399G>T	ENSP00000303252:p.Val426Leu						p.V426L	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	1870	+			426					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1276G>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460812	0.26248	.	.	ENSG00000170396	ENST00000302277	T	0.04406	3.63	5.6	4.72	0.59763	.	0.115488	0.38663	N	0.001620	T	0.03390	0.0098	L	0.33485	1.01	0.33295	D	0.564066	P	0.42456	0.78	B	0.28232	0.087	T	0.33979	-0.9847	10	0.59425	D	0.04	-12.9388	8.6422	0.33983	0.0761:0.0:0.7736:0.1503	.	426	Q7Z570	Z804A_HUMAN	L	426	ENSP00000303252:V426L	ENSP00000303252:V426L	V	+	1	0	ZNF804A	185509644	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	2.828000	0.48120	1.379000	0.46325	0.591000	0.81541	GTA		0.373	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1		NM_194250		16	85	1	0	1.5739e-10	0.028581	1.82241e-10	16	85		
ZNF142	7701	broad.mit.edu	37	2	219514052	219514052	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:219514052G>A	ENST00000449707.1	-	6	1000	c.579C>T	c.(577-579)tgC>tgT	p.C193C	ZNF142_ENST00000411696.2_Silent_p.C193C	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	193					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGCAGTTAGGGCACTGGAGGC	0.557											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(170;867 1942 8995 15834 18053)	uc002vin.2		NaN																	0				breast(2)|ovary(1)|skin(1)	4						c.(577-579)TGC>TGT		zinc finger protein 142							60.0	62.0	61.0					2																	219514052		2001	4173	6174	SO:0001819	synonymous_variant	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219514052G>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.579C>T	2.37:g.219514052G>A			OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2259	ZNF142_uc002vil.2_Silent_p.C154C|ZNF142_uc010fvt.2_Silent_p.C30C|ZNF142_uc002vim.2_Silent_p.C30C	p.C193C	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	6	1015	-		Renal(207;0.0474)	193					Q92510	Silent	SNP	ENST00000449707.1	37	c.579C>T	CCDS42817.1																																																																																				0.557	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1		NM_005081		13	37	0	0	0	0.020292	0	13	37		
KIF1A	547	broad.mit.edu	37	2	241710435	241710435	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:241710435G>A	ENST00000320389.7	-	14	1425	c.1267C>T	c.(1267-1269)Cgc>Tgc	p.R423C	KIF1A_ENST00000498729.2_Missense_Mutation_p.R432C	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	423					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AACAAGATGCGCTCGTGGAGG	0.647																																						uc002vzy.2		NaN																	0				lung(1)	1						c.(1267-1269)CGC>TGC		axonal transport of synaptic vesicles							45.0	56.0	53.0					2																	241710435		2077	4233	6310	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241710435G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1267C>T	2.37:g.241710435G>A	ENSP00000322791:p.Arg423Cys					KIF1A_uc010fzk.2_Missense_Mutation_p.R432C|KIF1A_uc002vzz.1_Missense_Mutation_p.R432C	p.R423C	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	14	1413	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	423					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.1267C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001412	0.74818	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.74209	-0.66;-0.75;-0.82	4.11	4.11	0.48088	.	0.058040	0.64402	U	0.000001	T	0.71558	0.3354	M	0.73217	2.22	0.80722	D	1	P;P;B	0.38677	0.556;0.642;0.107	B;B;B	0.31686	0.134;0.087;0.012	T	0.78484	-0.2186	10	0.87932	D	0	.	16.3652	0.83317	0.0:0.0:1.0:0.0	.	432;432;423	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	C	423;432;432;432	ENSP00000322791:R423C;ENSP00000438388:R432C;ENSP00000384231:R432C	ENSP00000322791:R423C	R	-	1	0	KIF1A	241359108	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.743000	0.85020	1.848000	0.53677	0.555000	0.69702	CGC		0.647	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3		NM_138483		38	80	0	0	0	0.025465	0	38	80		
KIF16B	55614	broad.mit.edu	37	20	16359928	16359928	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr20:16359928G>A	ENST00000354981.2	-	19	2876	c.2719C>T	c.(2719-2721)Cgc>Tgc	p.R907C	KIF16B_ENST00000408042.1_Missense_Mutation_p.R907C|KIF16B_ENST00000355755.3_Missense_Mutation_p.R907C|KIF16B_ENST00000378003.2_Missense_Mutation_p.R133C	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	907	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGTAGCTGGCGTTCTTTATAT	0.438																																						uc002wpg.1		NaN																	0				skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(2719-2721)CGC>TGC		kinesin-like motor protein C20orf23							89.0	84.0	85.0					20																	16359928		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359928G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2719C>T	20.37:g.16359928G>A	ENSP00000347076:p.Arg907Cys					KIF16B_uc002wpe.1_Missense_Mutation_p.R289C|KIF16B_uc002wpf.1_Missense_Mutation_p.R289C|KIF16B_uc010gch.1_Missense_Mutation_p.R907C|KIF16B_uc010gci.1_Missense_Mutation_p.R907C|KIF16B_uc010gcj.1_Missense_Mutation_p.R918C	p.R907C	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			19	2877	-			907			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.2719C>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	8.173	0.792202	0.16258	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.44	3.44	0.39384	.	0.109676	0.64402	D	0.000020	T	0.20659	0.0497	L	0.50333	1.59	0.44890	D	0.997909	B;B;B;B	0.26147	0.038;0.143;0.048;0.028	B;B;B;B	0.16722	0.005;0.015;0.016;0.006	T	0.03576	-1.1023	10	0.72032	D	0.01	.	13.2064	0.59798	0.0:0.0:0.5841:0.4159	.	907;907;907;907	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	C	907;907;751;133;907	ENSP00000347076:R907C;ENSP00000347995:R907C;ENSP00000367242:R133C;ENSP00000384164:R907C	ENSP00000347076:R907C	R	-	1	0	KIF16B	16307928	0.997000	0.39634	0.372000	0.25991	0.031000	0.12232	2.604000	0.46274	0.631000	0.30412	0.650000	0.86243	CGC		0.438	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2		NM_017683		4	63	0	0	0	0.021553	0	4	63		
ASXL1	171023	broad.mit.edu	37	20	31021631	31021631	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr20:31021631G>A	ENST00000375687.4	+	12	2054	c.1630G>A	c.(1630-1632)Gat>Aat	p.D544N	ASXL1_ENST00000306058.5_Missense_Mutation_p.D539N	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	544	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCGGCTTGAAGATCGTCAGTC	0.532			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2		NaN		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		0				haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(1630-1632)GAT>AAT		additional sex combs like 1 isoform 1							87.0	96.0	93.0					20																	31021631		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31021631G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1630G>A	20.37:g.31021631G>A	ENSP00000364839:p.Asp544Asn					ASXL1_uc010geb.2_Missense_Mutation_p.D435N	p.D544N	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			11	2056	+			544					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.1630G>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983567	0.74474	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.56776	0.44;0.44	5.02	5.02	0.67125	.	0.156736	0.56097	D	0.000032	T	0.68265	0.2982	M	0.65975	2.015	0.39257	D	0.964145	D;D	0.76494	0.999;0.995	D;D	0.66847	0.941;0.947	T	0.69661	-0.5085	10	0.46703	T	0.11	-9.0735	14.5111	0.67787	0.0:0.1464:0.8535:0.0	.	539;544	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	N	544;544;544;483;539	ENSP00000364839:D544N;ENSP00000305119:D539N	ENSP00000305119:D539N	D	+	1	0	ASXL1	30485292	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.738000	0.62073	2.780000	0.95670	0.655000	0.94253	GAT		0.532	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2		NM_015338		13	209	0	0	0	0.013537	0	13	209		
ZNFX1	57169	broad.mit.edu	37	20	47863986	47863986	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr20:47863986C>T	ENST00000396105.1	-	14	5821	c.5575G>A	c.(5575-5577)Gat>Aat	p.D1859N	ZNFX1_ENST00000371752.1_Missense_Mutation_p.D1859N|ZNFX1_ENST00000469991.1_5'Flank|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1859							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCCCACAATCGCCAATCACA	0.517																																						uc002xui.2		NaN																	0				ovary(2)	2						c.(5575-5577)GAT>AAT		zinc finger, NFX1-type containing 1							117.0	99.0	105.0					20																	47863986		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47863986C>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.5575G>A	20.37:g.47863986C>T	ENSP00000379412:p.Asp1859Asn						p.D1859N	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	5822	-			1859					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.5575G>A	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915613	0.52546	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.87256	-2.23;-2.23	6.04	3.81	0.43845	.	0.368430	0.30437	N	0.009639	T	0.75722	0.3888	N	0.12637	0.245	0.33757	D	0.621327	B	0.14805	0.011	B	0.08055	0.003	T	0.77405	-0.2600	10	0.45353	T	0.12	-4.4171	12.7267	0.57174	0.0:0.8421:0.0:0.1579	.	1859	Q9P2E3	ZNFX1_HUMAN	N	1859	ENSP00000360817:D1859N;ENSP00000379412:D1859N	ENSP00000360817:D1859N	D	-	1	0	ZNFX1	47297393	0.999000	0.42202	0.043000	0.18650	0.874000	0.50279	4.045000	0.57368	1.568000	0.49683	0.563000	0.77884	GAT		0.517	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2		NM_021035		52	114	0	0	0	0.01441	0	52	114		
NCAM2	4685	broad.mit.edu	37	21	22696785	22696785	+	Silent	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr21:22696785C>A	ENST00000400546.1	+	6	951	c.702C>A	c.(700-702)gcC>gcA	p.A234A	NCAM2_ENST00000535285.1_Silent_p.A259A|NCAM2_ENST00000284894.7_Silent_p.A92A	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	234	Ig-like C2-type 3.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCTGCAGGGCCTCAGGCTCTC	0.507																																						uc002yld.1		NaN																	0				ovary(4)	4						c.(700-702)GCC>GCA		neural cell adhesion molecule 2 precursor							98.0	99.0	99.0					21																	22696785		1928	4127	6055	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22696785C>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.702C>A	21.37:g.22696785C>A						NCAM2_uc011acb.1_Silent_p.A92A|NCAM2_uc011acc.1_Silent_p.A259A	p.A234A	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	6	951	+		Lung NSC(9;0.195)	234			Ig-like C2-type 3.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.702C>A	CCDS42910.1																																																																																				0.507	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1		NM_004540		7	107	1	0	5.18039e-06	0.00308	5.73943e-06	7	107		
PRR5	55615	broad.mit.edu	37	22	45130923	45130923	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr22:45130923G>A	ENST00000336985.6	+	7	849	c.572G>A	c.(571-573)aGg>aAg	p.R191K	ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000403581.1_Missense_Mutation_p.R214K|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.R191K|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000006251.7_Missense_Mutation_p.R182K|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.R191K	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	191	Interaction with RICTOR.				cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		CATGAGTCCAGGGGCGTGACT	0.652																																						uc003bfd.2		NaN																	0				skin(2)	2						c.(571-573)AGG>AAG		Rho GTPase activating protein 8 isoform 2							45.0	45.0	45.0					22																	45130923		2203	4299	6502	SO:0001583	missense	553158							g.chr22:45130923G>A	AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"""protein observed with Rictor-1"""	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.572G>A	22.37:g.45130923G>A	ENSP00000337464:p.Arg191Lys					PRR5_uc003bew.1_Missense_Mutation_p.R182K|PRR5_uc003bex.1_Missense_Mutation_p.R96K|PRR5_uc010gzt.1_Missense_Mutation_p.R214K|PRR5_uc010gzu.1_Missense_Mutation_p.R155K|PRR5_uc003bey.1_Missense_Mutation_p.R182K|PRR5_uc003bez.1_Missense_Mutation_p.R96K|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.R84K|PRR5_uc003bfb.1_Missense_Mutation_p.R191K|PRR5_uc003bfe.1_Intron|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.R90K	p.R191K	NM_181335	NP_851852					7	844	+								B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000336985.6	37	c.572G>A	CCDS14058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.238|9.238	1.037611|1.037611	0.19669|0.19669	.|.	.|.	ENSG00000186654|ENSG00000186654;ENSG00000186654;ENSG00000186654;ENSG00000186654;ENSG00000186654;ENSG00000186654;ENSG00000248405;ENSG00000241484	ENST00000455389|ENST00000432186;ENST00000006251;ENST00000404016;ENST00000403581;ENST00000336985;ENST00000457960;ENST00000352766;ENST00000517296	.|T;T;T;T;T;T;T	.|0.39592	.|1.67;1.7;1.69;1.7;1.07;2.4;2.4	4.87|4.87	3.86|3.86	0.44501|0.44501	.|.	.|0.246241	.|0.20090	.|U	.|0.099472	T|T	0.17789|0.17789	0.0427|0.0427	N|N	0.04880|0.04880	-0.145|-0.145	0.58432|0.58432	D|D	0.999992|0.999992	.|B;B;B;B;B;B	.|0.19583	.|0.005;0.0;0.037;0.015;0.0;0.0	.|B;B;B;B;B;B	.|0.18561	.|0.006;0.002;0.022;0.013;0.001;0.001	T|T	0.13737|0.13737	-1.0498|-1.0498	5|10	.|0.15952	.|T	.|0.53	.|.	5.8427|5.8427	0.18643|0.18643	0.188:0.0:0.812:0.0|0.188:0.0:0.812:0.0	.|.	.|155;214;90;191;191;191	.|B1AHF5;B1AHF6;P85299-2;B1AHC4;P85299;A8K699	.|.;.;.;.;PRR5_HUMAN;.	R|K	151|182;182;155;214;191;182;191;191	.|ENSP00000400925:R182K;ENSP00000006251:R182K;ENSP00000384848:R214K;ENSP00000337464:R191K;ENSP00000410215:R182K;ENSP00000262731:R191K;ENSP00000429240:R191K	.|ENSP00000262731:R191K	G|R	+|+	1|2	0|0	PRR5|PRR5;PRR5-ARHGAP8;ARHGAP8	43509587|43509587	0.030000|0.030000	0.19436|0.19436	0.548000|0.548000	0.28192|0.28192	0.790000|0.790000	0.44656|0.44656	1.409000|1.409000	0.34680|0.34680	2.711000|2.711000	0.92665|0.92665	0.655000|0.655000	0.94253|0.94253	GGG|AGG		0.652	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2		NM_001017528		7	59	0	0	0	0.02938	0	7	59		
CNOT10	25904	broad.mit.edu	37	3	32811403	32811403	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:32811403G>A	ENST00000328834.5	+	18	2345	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K	CNOT10_ENST00000454516.2_Missense_Mutation_p.E737K|CNOT10_ENST00000331889.6_Missense_Mutation_p.E650K	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	677					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CCATCCTAAAGAGGTGCCCCC	0.453																																						uc003cfc.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(2029-2031)GAG>AAG		CCR4-NOT transcription complex, subunit 10							127.0	128.0	127.0					3																	32811403		2203	4300	6503	SO:0001583	missense	25904				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	g.chr3:32811403G>A	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.2029G>A	3.37:g.32811403G>A	ENSP00000330060:p.Glu677Lys					CNOT10_uc003cfd.1_Missense_Mutation_p.E676K|CNOT10_uc003cfe.1_Missense_Mutation_p.E650K|CNOT10_uc010hfv.1_Intron|CNOT10_uc011axj.1_Missense_Mutation_p.E737K|CNOT10_uc010hfw.1_Missense_Mutation_p.E372K	p.E677K	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN			18	2284	+			677					B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	ENST00000328834.5	37	c.2029G>A	CCDS2655.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079942	0.76528	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000454516;ENST00000430408	T;T;T	0.29142	1.58;1.58;1.58	5.52	5.52	0.82312	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.45094	0.1325	L	0.42245	1.32	0.80722	D	1	P;B;D;P	0.63880	0.48;0.42;0.993;0.473	B;B;P;B	0.60789	0.204;0.219;0.879;0.145	T	0.07986	-1.0744	10	0.20519	T	0.43	-22.7079	19.4311	0.94768	0.0:0.0:1.0:0.0	.	737;650;676;677	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	K	650;677;737;212	ENSP00000329376:E650K;ENSP00000330060:E677K;ENSP00000399862:E737K	ENSP00000330060:E677K	E	+	1	0	CNOT10	32786407	1.000000	0.71417	0.957000	0.39632	0.997000	0.91878	9.869000	0.99810	2.590000	0.87494	0.563000	0.77884	GAG		0.453	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2		NM_015442		10	91	0	0	0	0.013537	0	10	91		
KLHL40	131377	broad.mit.edu	37	3	42732383	42732383	+	Missense_Mutation	SNP	G	G	A	rs144187563	byFrequency	TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:42732383G>A	ENST00000287777.4	+	5	1740	c.1640G>A	c.(1639-1641)cGt>cAt	p.R547H		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	547					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CCACAGGAGCGTAGCTCACTC	0.617													G|||	4	0.000798722	0.0	0.0043	5008	,	,		18754	0.0		0.0	False		,,,				2504	0.001					uc003clv.1		NaN																	0				ovary(1)	1						c.(1639-1641)CGT>CAT		kelch repeat and BTB (POZ) domain containing 5			HIS/ARG	1,4405		0,1,2202	91.0	76.0	81.0		1640	3.8	1.0	3	dbSNP_134	81	0,8600		0,0,4300	yes	missense	KBTBD5	NM_152393.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	547/622	42732383	1,13005	2203	4300	6503	SO:0001583	missense	131377							g.chr3:42732383G>A	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1640G>A	3.37:g.42732383G>A	ENSP00000287777:p.Arg547His						p.R547H	NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	5	1740	+			547			Kelch 4.		Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	c.1640G>A	CCDS2703.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	g	17.73	3.460537	0.63513	2.27E-4	0.0	ENSG00000157119	ENST00000287777;ENST00000452129	D	0.85702	-2.02	3.75	3.75	0.43078	Kelch-type beta propeller (1);	0.061993	0.64402	U	0.000006	D	0.89836	0.6830	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92024	0.5628	10	0.87932	D	0	.	15.9553	0.79884	0.0:0.0:1.0:0.0	.	547	Q2TBA0	KBTB5_HUMAN	H	547;292	ENSP00000287777:R547H	ENSP00000287777:R547H	R	+	2	0	KBTBD5	42707387	1.000000	0.71417	0.997000	0.53966	0.221000	0.24807	9.411000	0.97342	1.798000	0.52647	0.298000	0.19748	CGT		0.617	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1		NM_152393		8	74	0	0	0	0.008291	0	8	74		
CCR5	1234	broad.mit.edu	37	3	46415257	46415257	+	Silent	SNP	G	G	A	rs372879037		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:46415257G>A	ENST00000292303.4	+	2	1010	c.864G>A	c.(862-864)acG>acA	p.T288T	CCR5_ENST00000343801.4_Silent_p.T288T|CCR5_ENST00000445772.1_Silent_p.T288T|RP11-24F11.2_ENST00000451485.1_RNA	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	288			T -> M (in INCCR5-72A).		calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TTGGGATGACGCACTGCTGCA	0.473																																						uc003cpo.3		NaN																	0				lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(862-864)ACG>ACA		chemokine (C-C motif) receptor 5	Maraviroc(DB04835)	G	,	2,4404	4.2+/-10.8	0,2,2201	243.0	233.0	236.0		864,864	-11.4	0.0	3		236	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	CCR5	NM_000579.3,NM_001100168.1	,	0,2,6497	AA,AG,GG		0.0,0.0454,0.0154	,	288/353,288/353	46415257	2,12996	2203	4296	6499	SO:0001819	synonymous_variant	1234				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	g.chr3:46415257G>A		CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.864G>A	3.37:g.46415257G>A						CCR5_uc010hjd.2_Silent_p.T288T	p.T288T	NM_001100168	NP_001093638	P51681	CCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	3	986	+			288		T -> M (in INCCR5-72A).	Helical; Name=7; (Potential).		O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Silent	SNP	ENST00000292303.4	37	c.864G>A	CCDS2739.1																																																																																				0.473	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2		NM_000579		24	376	0	0	0	0.021523	0	24	376		
RHOA	387	broad.mit.edu	37	3	49412958	49412958	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:49412958A>G	ENST00000418115.1	-	2	449	c.65T>C	c.(64-66)cTc>cCc	p.L22P	RHOA_ENST00000454011.2_Missense_Mutation_p.L22P|RHOA_ENST00000422781.1_Missense_Mutation_p.L22P	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	22					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAAGACTATGAGCAAGCATGT	0.473																																						uc003cwu.2		NaN																	0				ovary(2)	2						c.(64-66)CTC>CCC		ras homolog gene family, member A precursor	Atorvastatin(DB01076)|Simvastatin(DB00641)						147.0	133.0	138.0					3																	49412958		2203	4300	6503	SO:0001583	missense	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49412958A>G	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.65T>C	3.37:g.49412958A>G	ENSP00000400175:p.Leu22Pro					RHOA_uc010hku.2_Intron	p.L22P	NM_001664	NP_001655	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	2	341	-			22					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.65T>C	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.737212	0.89482	.	.	ENSG00000067560	ENST00000418115;ENST00000454011;ENST00000422781;ENST00000445425;ENST00000431929	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	D	0.93861	0.8036	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96009	0.9000	10	0.87932	D	0	.	15.1943	0.73075	1.0:0.0:0.0:0.0	.	22	P61586	RHOA_HUMAN	P	22	ENSP00000400175:L22P;ENSP00000394483:L22P;ENSP00000413587:L22P;ENSP00000408402:L22P;ENSP00000400747:L22P	ENSP00000400175:L22P	L	-	2	0	RHOA	49387962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.178000	0.94855	2.266000	0.75297	0.456000	0.33151	CTC		0.473	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3		NM_001664		42	82	0	0	0	0.030466	0	42	82		
VPRBP	9730	broad.mit.edu	37	3	51457623	51457623	+	Missense_Mutation	SNP	C	C	T	rs114108730		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:51457623C>T	ENST00000335891.5	-	7	1463	c.1454G>A	c.(1453-1455)cGg>cAg	p.R485Q				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	934	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CTGGGGGGGCCGTGGCTGAGG	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18905	0.0		0.001	False		,,,				2504	0.0					uc003dbe.1		NaN																	0				ovary(1)|skin(1)	2						c.(2800-2802)CGG>CAG		HIV-1 Vpr binding protein							44.0	47.0	46.0					3																	51457623		1981	4164	6145	SO:0001583	missense	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51457623C>T	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1454G>A	3.37:g.51457623C>T	ENSP00000338857:p.Arg485Gln					VPRBP_uc003dbf.1_Missense_Mutation_p.R210Q	p.R934Q	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	14	2969	-			934					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37	c.2801G>A		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	9.891	1.204268	0.22205	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.54866	0.55;0.55	5.92	5.92	0.95590	.	0.121317	0.53938	D	0.000041	T	0.34687	0.0906	L	0.29908	0.895	0.45791	D	0.99867	P	0.46859	0.885	B	0.32864	0.154	T	0.21930	-1.0231	10	0.13470	T	0.59	-13.7713	15.7636	0.78106	0.0:0.8644:0.1356:0.0	.	934	Q9Y4B6	VPRBP_HUMAN	Q	505;485	ENSP00000393183:R505Q;ENSP00000338857:R485Q	ENSP00000338857:R485Q	R	-	2	0	VPRBP	51432663	0.999000	0.42202	0.993000	0.49108	0.436000	0.31835	4.170000	0.58229	2.804000	0.96469	0.655000	0.94253	CGG		0.597	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_014703		15	47	0	0	0	0.024245	0	15	47		
SENP7	57337	broad.mit.edu	37	3	101212807	101212807	+	Silent	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:101212807T>C	ENST00000394095.2	-	3	149	c.96A>G	c.(94-96)agA>agG	p.R32R	SENP7_ENST00000348610.3_5'UTR|SENP7_ENST00000358203.3_5'UTR|SENP7_ENST00000394091.1_5'UTR|SENP7_ENST00000394094.2_Silent_p.R32R|SENP7_ENST00000314261.7_Silent_p.R32R	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	32						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTAACATCTTTCTTATCTGAA	0.358																																						uc003dut.2		NaN																	0				ovary(3)|lung(2)	5						c.(94-96)AGA>AGG		sentrin/SUMO-specific protease 7 isoform 1							88.0	81.0	84.0					3																	101212807		2203	4300	6503	SO:0001819	synonymous_variant	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101212807T>C		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.96A>G	3.37:g.101212807T>C						SENP7_uc003duu.2_Silent_p.R32R|SENP7_uc003duv.2_5'UTR|SENP7_uc003duw.2_Silent_p.R32R|SENP7_uc003dux.2_5'UTR	p.R32R	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			3	207	-			32					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	ENST00000394095.2	37	c.96A>G	CCDS2941.2																																																																																				0.358	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2		NM_020654		14	28	0	0	0	0.0333	0	14	28		
STXBP5L	9515	broad.mit.edu	37	3	121137298	121137298	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:121137298G>A	ENST00000273666.6	+	27	3684	c.3413G>A	c.(3412-3414)cGt>cAt	p.R1138H	STXBP5L_ENST00000471454.1_Missense_Mutation_p.R1114H	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1138	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAGCTGACCCGTGCACGGATT	0.532																																						uc003eec.3		NaN																	0				ovary(7)|skin(2)	9						c.(3412-3414)CGT>CAT		syntaxin binding protein 5-like							62.0	69.0	66.0					3																	121137298		2051	4195	6246	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121137298G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.3413G>A	3.37:g.121137298G>A	ENSP00000273666:p.Arg1138His					STXBP5L_uc011bji.1_Missense_Mutation_p.R1114H	p.R1138H	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	27	3553	+			1138			v-SNARE coiled-coil homology.		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.3413G>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635322	0.67130	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	T;T;T	0.27256	1.68;1.68;1.75	5.59	4.7	0.59300	Synaptobrevin (1);	0.216802	0.39615	N	0.001315	T	0.38401	0.1039	M	0.82056	2.57	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.45506	0.483;0.483	T	0.48375	-0.9041	10	0.52906	T	0.07	-10.144	16.2727	0.82629	0.0:0.1328:0.8672:0.0	.	1114;1138	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	H	1138;1114;1081	ENSP00000273666:R1138H;ENSP00000420019:R1114H;ENSP00000420167:R1081H	ENSP00000273666:R1138H	R	+	2	0	STXBP5L	122619988	1.000000	0.71417	0.037000	0.18230	0.985000	0.73830	9.807000	0.99171	1.318000	0.45170	0.655000	0.94253	CGT		0.532	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3				32	32	0	0	0	0.013726	0	32	32		
KALRN	8997	broad.mit.edu	37	3	124132333	124132333	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:124132333A>G	ENST00000240874.3	+	14	2514	c.2357A>G	c.(2356-2358)gAc>gGc	p.D786G	KALRN_ENST00000460856.1_Missense_Mutation_p.D786G|KALRN_ENST00000360013.3_Missense_Mutation_p.D786G	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	786					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCAGAGCTAGACGCCTGGAAT	0.527																																						uc003ehg.2		NaN																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(2356-2358)GAC>GGC		kalirin, RhoGEF kinase isoform 1							64.0	57.0	59.0					3																	124132333		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124132333A>G	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2357A>G	3.37:g.124132333A>G	ENSP00000240874:p.Asp786Gly					KALRN_uc010hrv.1_Missense_Mutation_p.D786G|KALRN_uc003ehf.1_Missense_Mutation_p.D786G|KALRN_uc011bjy.1_Missense_Mutation_p.D786G|KALRN_uc003ehh.1_Missense_Mutation_p.D132G	p.D786G	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			14	2484	+			786					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.2357A>G	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.0|25.0	4.591932|4.591932	0.86953|0.86953	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.57907|.	0.37;0.37;0.37|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63141|0.63141	0.2486|0.2486	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	P;P;D;P|.	0.67145|.	0.864;0.57;0.996;0.917|.	P;B;P;P|.	0.60609|.	0.515;0.248;0.877;0.709|.	T|T	0.59584|0.59584	-0.7427|-0.7427	10|5	0.46703|.	T|.	0.11|.	.|.	16.0399|16.0399	0.80667|0.80667	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	786;132;786;786|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	G|A	786|764	ENSP00000418611:D786G;ENSP00000240874:D786G;ENSP00000353109:D786G|.	ENSP00000240874:D786G|.	D|T	+|+	2|1	0|0	KALRN|KALRN	125615023|125615023	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.987000|0.987000	0.75469|0.75469	9.139000|9.139000	0.94554|0.94554	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	GAC|ACG		0.527	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4		NM_003947		5	40	0	0	0	0.014758	0	5	40		
MUC4	4585	broad.mit.edu	37	3	195515077	195515077	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:195515077T>C	ENST00000463781.3	-	2	3833	c.3374A>G	c.(3373-3375)gAc>gGc	p.D1125G	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D1125G|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	564					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.D1125G(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGTGTCGGTGACAGG	0.557																																						uc011bto.1		NaN																	1	Substitution - Missense(1)		endometrium(1)		0						c.(3373-3375)GAC>GGC		mucin 4 isoform a							11.0	7.0	8.0					3																	195515077		662	1503	2165	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515077T>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3374A>G	3.37:g.195515077T>C	ENSP00000417498:p.Asp1125Gly					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.D1125G	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3834	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.3374A>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	6.527	0.465468	0.12402	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.33438	1.42;1.41	0.814	-0.456	0.12190	.	.	.	.	.	T	0.16471	0.0396	N	0.19112	0.55	0.09310	N	1	P	0.44344	0.833	B	0.41374	0.355	T	0.13072	-1.0523	8	.	.	.	.	4.1432	0.10203	0.0:0.2489:0.0:0.7511	.	1125	E7ESK3	.	G	1125	ENSP00000417498:D1125G;ENSP00000420243:D1125G	.	D	-	2	0	MUC4	196999472	0.000000	0.05858	0.002000	0.10522	0.071000	0.16799	-1.004000	0.03678	-0.138000	0.11434	0.055000	0.15244	GAC		0.557	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406		2	6	0	0	0	0.004672	0	2	6		
MXD4	10608	broad.mit.edu	37	4	2254190	2254190	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr4:2254190T>C	ENST00000337190.2	-	4	567	c.254A>G	c.(253-255)gAc>gGc	p.D85G	MXD4_ENST00000515378.1_5'Flank|MIR4800_ENST00000537353.2_RNA	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	85	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						GCGGGTGCTGTCGGGGCCCAG	0.637																																						uc003geu.1		NaN																	0					0						c.(253-255)GAC>GGC		MAD4							89.0	86.0	87.0					4																	2254190		2203	4300	6503	SO:0001583	missense	10608				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr4:2254190T>C		CCDS3361.1	4p16.3	2008-08-19			ENSG00000123933	ENSG00000123933		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	13906	protein-coding gene	gene with protein product						8521822	Standard	NM_006454		Approved	MAD4, MSTP149, MST149, bHLHc12	uc003geu.1	Q14582	OTTHUMG00000090243	ENST00000337190.2:c.254A>G	4.37:g.2254190T>C	ENSP00000337889:p.Asp85Gly						p.D85G	NM_006454	NP_006445	Q14582	MAD4_HUMAN			4	286	-			85			Helix-loop-helix motif.		A2A335|Q5TZX4	Missense_Mutation	SNP	ENST00000337190.2	37	c.254A>G	CCDS3361.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.451195	0.84209	.	.	ENSG00000123933	ENST00000337190	T	0.25250	1.81	4.26	4.26	0.50523	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	M	0.69248	2.105	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	T	0.43686	-0.9376	10	0.56958	D	0.05	-34.0378	11.3854	0.49782	0.0:0.0:0.0:1.0	.	85	Q14582	MAD4_HUMAN	G	85	ENSP00000337889:D85G	ENSP00000337889:D85G	D	-	2	0	MXD4	2223988	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.399000	0.79935	1.786000	0.52430	0.459000	0.35465	GAC		0.637	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206519.1		NM_006454		13	50	0	0	0	0.013537	0	13	50		
PPP2R2C	5522	broad.mit.edu	37	4	6473933	6473933	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr4:6473933C>T	ENST00000382599.4	-	1	240	c.24G>A	c.(22-24)cgG>cgA	p.R8R	PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000506140.1_Intron			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	8					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						GGTTAATTTTCCGCGTGTCCG	0.667																																						uc003gjc.2		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(22-24)CGG>CGA		gamma isoform of regulatory subunit B55, protein							173.0	156.0	162.0					4																	6473933		2203	4300	6503	SO:0001819	synonymous_variant	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6473933C>T	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.24G>A	4.37:g.6473933C>T						PPP2R2C_uc011bwd.1_Intron|PPP2R2C_uc011bwe.1_Intron	p.R8R	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN			1	394	-			8					A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Silent	SNP	ENST00000382599.4	37	c.24G>A																																																																																					0.667	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2		NM_181876		31	237	0	0	0	0.015359	0	31	237		
SORCS2	57537	broad.mit.edu	37	4	7725484	7725484	+	Missense_Mutation	SNP	G	G	A	rs371728739		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr4:7725484G>A	ENST00000507866.2	+	19	2594	c.2485G>A	c.(2485-2487)Gtg>Atg	p.V829M	SORCS2_ENST00000329016.9_Missense_Mutation_p.V657M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	829	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GGCCATGTACGTGAACCTTAC	0.607																																						uc003gkb.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2485-2487)GTG>ATG		VPS10 domain receptor protein SORCS 2 precursor		G	MET/VAL	0,4192		0,0,2096	148.0	149.0	149.0		2485	2.0	1.0	4		149	1,8425		0,1,4212	no	missense	SORCS2	NM_020777.2	21	0,1,6308	AA,AG,GG		0.0119,0.0,0.0079	possibly-damaging	829/1160	7725484	1,12617	2096	4213	6309	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7725484G>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2485G>A	4.37:g.7725484G>A	ENSP00000422185:p.Val829Met					SORCS2_uc011bwi.1_Missense_Mutation_p.V657M	p.V829M	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN			19	2485	+			829			PKD.|Lumenal (Potential).		Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.2485G>A	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	8.651	0.898192	0.17686	0.0	1.19E-4	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.62788	0.0;0.0	2.82	1.97	0.26223	PKD/Chitinase domain (1);PKD domain (4);	0.202763	0.32952	U	0.005460	T	0.53626	0.1808	L	0.53249	1.67	0.34206	D	0.673751	B;P	0.44659	0.238;0.84	B;B	0.40199	0.147;0.322	T	0.64807	-0.6320	10	0.59425	D	0.04	.	9.4251	0.38574	0.1086:0.0:0.8914:0.0	.	657;829	B5MED8;Q96PQ0	.;SORC2_HUMAN	M	829;657	ENSP00000422185:V829M;ENSP00000329124:V657M	ENSP00000329124:V657M	V	+	1	0	SORCS2	7776384	0.382000	0.25148	0.996000	0.52242	0.113000	0.19764	0.626000	0.24492	0.400000	0.25396	0.467000	0.42956	GTG		0.607	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4		NM_020777		19	185	0	0	0	0.010504	0	19	185		
ANKRD50	57182	broad.mit.edu	37	4	125591960	125591960	+	Silent	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr4:125591960T>C	ENST00000504087.1	-	4	3509	c.2472A>G	c.(2470-2472)caA>caG	p.Q824Q	ANKRD50_ENST00000515641.1_Silent_p.Q645Q	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	824										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CAACATTTCCTTGTGCTGAAG	0.438																																						uc003ifg.3		NaN																	0				central_nervous_system(1)	1						c.(2470-2472)CAA>CAG		ankyrin repeat domain 50							169.0	150.0	156.0					4																	125591960		2203	4300	6503	SO:0001819	synonymous_variant	57182							g.chr4:125591960T>C	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.2472A>G	4.37:g.125591960T>C						ANKRD50_uc011cgo.1_Silent_p.Q645Q|ANKRD50_uc010inw.2_Silent_p.Q824Q	p.Q824Q	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			3	2738	-			824			ANK 11.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	ENST00000504087.1	37	c.2472A>G	CCDS34060.1																																																																																				0.438	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1		NM_020337		8	86	0	0	0	0.00308	0	8	86		
UGT3A1	133688	broad.mit.edu	37	5	35957445	35957445	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:35957445T>C	ENST00000274278.3	-	5	1277	c.920A>G	c.(919-921)cAt>cGt	p.H307R	UGT3A1_ENST00000507113.1_Missense_Mutation_p.H273R|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.H307R	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	307						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGGGACTGATGGGTGTTCAA	0.488																																						uc003jjv.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(919-921)CAT>CGT		UDP glycosyltransferase 3 family, polypeptide A1							118.0	100.0	106.0					5																	35957445		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35957445T>C		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.920A>G	5.37:g.35957445T>C	ENSP00000274278:p.His307Arg					UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.H307R|UGT3A1_uc011cor.1_Missense_Mutation_p.H273R	p.H307R	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	1077	-	all_lung(31;0.000197)		307			Extracellular (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.920A>G	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	1.592	-0.528896	0.04112	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	T;T;T	0.58652	0.32;0.32;0.32	3.28	-4.01	0.04045	.	1.669230	0.03370	N	0.198788	T	0.37404	0.1002	N	0.16790	0.44	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.30357	-0.9981	10	0.62326	D	0.03	.	3.9921	0.09541	0.4409:0.1096:0.0:0.4495	.	273;307;307	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	R	307;307;273	ENSP00000274278:H307R;ENSP00000427079:H307R;ENSP00000426100:H273R	ENSP00000274278:H307R	H	-	2	0	UGT3A1	35993202	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.022000	0.03611	-0.439000	0.07222	0.383000	0.25322	CAT		0.488	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2		NM_152404		5	55	0	0	0	0.02938	0	5	55		
NSA2	10412	broad.mit.edu	37	5	74069827	74069827	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:74069827C>T	ENST00000296802.5	+	5	1026	c.657C>T	c.(655-657)gtC>gtT	p.V219V		NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	219					rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						AAGGTACTGTCATTGAAGTAA	0.423																																						uc003kdk.1		NaN																	0				ovary(1)	1						c.(655-657)GTC>GTT		NSA2 ribosome biogenesis homolog							112.0	105.0	107.0					5																	74069827		2203	4300	6503	SO:0001819	synonymous_variant	10412				rRNA processing	nucleolus|ribonucleoprotein complex		g.chr5:74069827C>T	AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"""hairy cell leukemia protein 1"", ""TGF beta-inducible nuclear protein 1"""	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.657C>T	5.37:g.74069827C>T							p.V219V	NM_014886	NP_055701	O95478	NSA2_HUMAN			5	740	+			219						Silent	SNP	ENST00000296802.5	37	c.657C>T	CCDS4025.1																																																																																				0.423	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254041.3		NM_014886		7	79	0	0	0	0.00308	0	7	79		
PPIP5K2	23262	broad.mit.edu	37	5	102502895	102502895	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:102502895G>A	ENST00000358359.3	+	18	2442	c.1933G>A	c.(1933-1935)Gga>Aga	p.G645R	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.G645R|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.G645R	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	645					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TACTCCATCTGGAAGCATTTC	0.294																																						uc003kod.3		NaN																	0				ovary(1)|skin(1)	2						c.(1933-1935)GGA>AGA		Histidine acid phosphatase domain containing 1							67.0	75.0	72.0					5																	102502895		2202	4290	6492	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102502895G>A	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.1933G>A	5.37:g.102502895G>A	ENSP00000351126:p.Gly645Arg					PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.G645R|PPIP5K2_uc003kof.2_5'Flank	p.G645R	NM_015216	NP_056031	O43314	VIP2_HUMAN			18	2452	+			645					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.1933G>A		.	.	.	.	.	.	.	.	.	.	G	12.59	1.982210	0.34942	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.28454	1.61;1.61;1.61	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	T	0.31136	0.0787	L	0.58428	1.81	0.45056	D	0.998072	B;B	0.14438	0.004;0.01	B;B	0.21151	0.019;0.033	T	0.05305	-1.0893	10	0.31617	T	0.26	.	12.5695	0.56328	0.0762:0.0:0.9238:0.0	.	645;645	O43314-2;O43314	.;VIP2_HUMAN	R	645	ENSP00000313070:G645R;ENSP00000351126:G645R;ENSP00000416016:G645R	ENSP00000313070:G645R	G	+	1	0	PPIP5K2	102530794	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.621000	0.54210	2.536000	0.85505	0.460000	0.39030	GGA		0.294	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1		NM_015216		6	38	0	0	0	0.02938	0	6	38		
JADE2	23338	broad.mit.edu	37	5	133914401	133914401	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:133914401C>T	ENST00000282605.4	+	12	1985	c.1899C>T	c.(1897-1899)gaC>gaT	p.D633D	PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_Silent_p.D590D|PHF15_ENST00000395003.1_Silent_p.D589D																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCTGGTGACCCTGCTAGGA	0.662																																						uc003kzo.1		NaN																	0					0						c.(1765-1767)GAC>GAT		PHD finger protein 15							51.0	45.0	47.0					5																	133914401		2203	4300	6503	SO:0001819	synonymous_variant	23338				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133914401C>T																												ENST00000282605.4:c.1899C>T	5.37:g.133914401C>T						PHF15_uc011cxt.1_Silent_p.D633D|PHF15_uc003kzk.2_Silent_p.D649D|PHF15_uc003kzl.2_3'UTR|PHF15_uc003kzm.2_Silent_p.D590D|PHF15_uc003kzn.2_3'UTR	p.D589D	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	1946	+			589						Silent	SNP	ENST00000282605.4	37	c.1767C>T																																																																																					0.662	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251170.1				6	32	0	0	0	0.02938	0	6	32		
FGFR4	2264	broad.mit.edu	37	5	176520735	176520735	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:176520735G>A	ENST00000292408.4	+	11	1723	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q	FGFR4_ENST00000292410.3_Missense_Mutation_p.R453Q|FGFR4_ENST00000502906.1_Missense_Mutation_p.R493Q|FGFR4_ENST00000393637.1_Missense_Mutation_p.R453Q|FGFR4_ENST00000393648.2_Missense_Mutation_p.R425Q	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	493	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	GACCCTGCCCGGCCTGACCAA	0.612										TSP Lung(9;0.080)																												uc003mfl.2		NaN																	0				lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16						c.(1477-1479)CGG>CAG		fibroblast growth factor receptor 4 isoform 1	Palifermin(DB00039)						43.0	36.0	38.0					5																	176520735		2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176520735G>A	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1478G>A	5.37:g.176520735G>A	ENSP00000292408:p.Arg493Gln	TSP Lung(9;0.080)				FGFR4_uc003mfm.2_Missense_Mutation_p.R493Q|FGFR4_uc011dfu.1_Missense_Mutation_p.R425Q|FGFR4_uc003mfo.2_Missense_Mutation_p.R453Q	p.R493Q	NM_002011	NP_002002	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1645	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	493			Protein kinase.|Cytoplasmic (Potential).		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.1478G>A	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459462	0.26248	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	4.48	-6.22	0.02058	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	1.028080	0.07629	N	0.928368	T	0.72153	0.3425	N	0.20845	0.615	0.09310	N	1	B;B;B	0.15473	0.0;0.0;0.013	B;B;B	0.08055	0.001;0.001;0.003	T	0.51980	-0.8636	10	0.54805	T	0.06	.	18.1017	0.89508	0.13:0.0:0.87:0.0	.	425;453;493	B4DVP5;P22455-2;P22455	.;.;FGFR4_HUMAN	Q	493;425;493;453;453;721	ENSP00000292408:R493Q;ENSP00000377259:R425Q;ENSP00000424960:R493Q;ENSP00000292410:R453Q;ENSP00000377254:R453Q	ENSP00000292408:R493Q	R	+	2	0	FGFR4	176453341	0.000000	0.05858	0.156000	0.22583	0.391000	0.30476	-1.083000	0.03397	-1.359000	0.02174	-0.448000	0.05591	CGG		0.612	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1				5	42	0	0	0	0.014758	0	5	42		
BTN2A2	10385	broad.mit.edu	37	6	26384093	26384093	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:26384093T>C	ENST00000356709.4	+	2	155	c.44T>C	c.(43-45)cTc>cCc	p.L15P	BTN2A2_ENST00000469230.1_Missense_Mutation_p.L15P|BTN2A2_ENST00000416795.2_Missense_Mutation_p.L15P|BTN2A2_ENST00000482536.1_Missense_Mutation_p.L15P|BTN2A2_ENST00000352867.2_Missense_Mutation_p.L15P|BTN2A2_ENST00000432533.2_Missense_Mutation_p.L15P	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	15					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CCAGCCTCcctcctcctcctc	0.582																																						uc003nhq.2		NaN																	0					0						c.(43-45)CTC>CCC		butyrophilin, subfamily 2, member A2 isoform a							187.0	136.0	153.0					6																	26384093		2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26384093T>C	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.44T>C	6.37:g.26384093T>C	ENSP00000349143:p.Leu15Pro					BTN2A2_uc011dkf.1_Missense_Mutation_p.L15P|BTN2A2_uc011dkg.1_Missense_Mutation_p.L15P|BTN2A2_uc003nhr.2_Missense_Mutation_p.L15P|BTN2A2_uc011dkh.1_Missense_Mutation_p.L15P|BTN2A2_uc003nhs.2_Missense_Mutation_p.L15P|BTN2A2_uc003nht.2_Missense_Mutation_p.L15P	p.L15P	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN			2	130	+			15					A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.44T>C	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	t	13.92	2.380107	0.42207	.	.	ENSG00000124508	ENST00000469230;ENST00000356709;ENST00000352867;ENST00000493275;ENST00000472507;ENST00000482536;ENST00000432533;ENST00000416795;ENST00000494184;ENST00000483410	T;T;T;T;T;T;D;T;T;T	0.90788	3.72;1.05;0.32;4.18;3.31;-0.26;-2.73;1.05;2.23;3.67	2.01	2.01	0.26516	.	0.656368	0.12607	N	0.454165	T	0.79263	0.4416	N	0.08118	0	0.40113	D	0.976519	P;D;D;D;P;P	0.69078	0.953;0.983;0.997;0.99;0.953;0.953	B;P;P;P;B;B	0.54590	0.37;0.507;0.756;0.702;0.37;0.37	T	0.78553	-0.2160	10	0.87932	D	0	.	6.0639	0.19852	0.0:0.0:0.0:1.0	.	15;15;15;15;15;15	E9PH07;B4DQ01;B4E3J1;Q8WVV5-2;A6NM84;Q8WVV5	.;.;.;.;.;BT2A2_HUMAN	P	15	ENSP00000417472:L15P;ENSP00000349143:L15P;ENSP00000337117:L15P;ENSP00000418857:L15P;ENSP00000419226:L15P;ENSP00000419451:L15P;ENSP00000394241:L15P;ENSP00000399308:L15P;ENSP00000417511:L15P;ENSP00000418176:L15P	ENSP00000337117:L15P	L	+	2	0	BTN2A2	26492072	0.001000	0.12720	0.360000	0.25837	0.576000	0.36127	0.943000	0.29030	1.168000	0.42723	0.248000	0.18094	CTC		0.582	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1				3	101	0	0	0	0.021553	0	3	101		
PBX2	5089	broad.mit.edu	37	6	32154671	32154671	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:32154671G>A	ENST00000375050.4	-	7	1302	c.1032C>T	c.(1030-1032)ggC>ggT	p.G344G	XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375055.2_5'Flank|AGER_ENST00000375069.3_5'Flank|AGER_ENST00000375067.3_5'Flank|AGER_ENST00000375070.3_5'Flank|AGER_ENST00000438221.2_5'Flank|AGER_ENST00000538695.1_5'Flank|AGER_ENST00000375076.4_5'Flank|AGER_ENST00000375065.5_5'Flank	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	344					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.G344G(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TGAAAGAGCCGCCAGAGCCTT	0.527																																						uc003oav.1		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1030-1032)GGC>GGT		pre-B-cell leukemia homeobox 2							43.0	45.0	45.0					6																	32154671		2203	4300	6503	SO:0001819	synonymous_variant	5089						transcription factor binding	g.chr6:32154671G>A		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.1032C>T	6.37:g.32154671G>A						AGER_uc003oar.2_5'Flank|AGER_uc011dpm.1_5'Flank|AGER_uc011dpn.1_5'Flank|AGER_uc003oal.1_5'Flank|AGER_uc010jtv.1_5'Flank|AGER_uc011dpo.1_5'Flank|AGER_uc003oam.1_5'Flank|AGER_uc003oan.1_5'Flank|AGER_uc003oap.1_5'Flank|AGER_uc003oat.1_5'Flank|AGER_uc003oao.1_5'Flank|AGER_uc003oaq.1_5'Flank|AGER_uc010jtw.1_5'Flank|AGER_uc003oas.1_5'Flank|AGER_uc003oau.1_5'Flank|AGER_uc011dpp.1_5'Flank|AGER_uc011dpq.1_5'Flank|AGER_uc011dpr.1_5'Flank|AGER_uc011dps.1_5'Flank	p.G344G	NM_002586	NP_002577	P40425	PBX2_HUMAN			7	1303	-			344					A2BFJ2	Silent	SNP	ENST00000375050.4	37	c.1032C>T	CCDS4748.1																																																																																				0.527	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4				3	49	0	0	0	0.004672	0	3	49		
PNRC1	10957	broad.mit.edu	37	6	89793784	89793784	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:89793784A>T	ENST00000336032.3	+	2	970	c.853A>T	c.(853-855)Agt>Tgt	p.S285C	PNRC1_ENST00000354922.3_Missense_Mutation_p.S100C|PNRC1_ENST00000369472.1_Missense_Mutation_p.S100C	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		GGCAAAGTTTAGTGATCCACC	0.408										Multiple Myeloma(7;0.094)																												uc003pmv.2		NaN																	0					0						c.(853-855)AGT>TGT		proline-rich nuclear receptor coactivator 1							79.0	82.0	81.0					6																	89793784		2203	4300	6503	SO:0001583	missense	10957				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:89793784A>T	U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"""proline rich 2"""	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.853A>T	6.37:g.89793784A>T	ENSP00000336931:p.Ser285Cys	Multiple Myeloma(7;0.094)				PNRC1_uc003pmx.2_Missense_Mutation_p.S100C	p.S285C	NM_006813	NP_006804	Q12796	PNRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.102)	2	1038	+		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	285			SH3-binding.		B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Missense_Mutation	SNP	ENST00000336032.3	37	c.853A>T	CCDS5018.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.079154	0.76528	.	.	ENSG00000146278	ENST00000369472;ENST00000336032;ENST00000354922	T;T;T	0.64438	0.1;-0.1;0.1	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.75777	2.31	0.58432	D	0.999994	D	0.89917	1.0	D	0.72338	0.977	T	0.78663	-0.2116	10	0.87932	D	0	-9.1026	15.8451	0.78883	1.0:0.0:0.0:0.0	.	285	Q12796	PNRC1_HUMAN	C	100;285;100	ENSP00000358484:S100C;ENSP00000336931:S285C;ENSP00000347000:S100C	ENSP00000336931:S285C	S	+	1	0	PNRC1	89850503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.264000	0.89866	2.126000	0.65437	0.533000	0.62120	AGT		0.408	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041471.1		NM_006813		3	57	0	0	0	0.004672	0	3	57		
REV3L	5980	broad.mit.edu	37	6	111688580	111688580	+	Silent	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:111688580T>C	ENST00000358835.3	-	15	6865	c.6411A>G	c.(6409-6411)aaA>aaG	p.K2137K	REV3L_ENST00000368805.1_Silent_p.K2137K|REV3L_ENST00000368802.3_Silent_p.K2137K|REV3L_ENST00000435970.1_Silent_p.K2059K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2137					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CATTTAATGCTTTGGAATCTG	0.378								DNA polymerases (catalytic subunits)																														uc003puy.3		NaN																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(6409-6411)AAA>AAG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							110.0	110.0	110.0					6																	111688580		2203	4300	6503	SO:0001819	synonymous_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111688580T>C	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.6411A>G	6.37:g.111688580T>C						REV3L_uc003pux.3_Silent_p.K2059K|REV3L_uc003puz.3_Silent_p.K2059K|REV3L_uc003pva.1_RNA	p.K2137K	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	14	6734	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2137					O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	c.6411A>G	CCDS5091.2																																																																																				0.378	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1		NM_002912		14	109	0	0	0	0.028581	0	14	109		
CTAGE9	643854	broad.mit.edu	37	6	132031779	132031779	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:132031779T>C	ENST00000314099.8	-	1	427	c.379A>G	c.(379-381)Agt>Ggt	p.S127G	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	127						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						GCCTCCAAACTTCGTGCTTCT	0.403																																						uc011ece.1		NaN																	0					0						c.(379-381)AGT>GGT		CTAGE family, member 4-like							10.0	7.0	8.0					6																	132031779		675	1530	2205	SO:0001583	missense	643854					integral to membrane		g.chr6:132031779T>C		CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.379A>G	6.37:g.132031779T>C	ENSP00000395587:p.Ser127Gly					ENPP3_uc003qcu.3_Intron|ENPP3_uc010kfq.2_Intron|ENPP3_uc003qcv.2_Intron	p.S127G	NM_001145659	NP_001139131	A4FU28	CTGE9_HUMAN			1	379	-			127			Potential.			Missense_Mutation	SNP	ENST00000314099.8	37	c.379A>G	CCDS47475.1	.	.	.	.	.	.	.	.	.	.	-	6.544	0.468611	0.12461	.	.	ENSG00000236761	ENST00000314099	T	0.39406	1.08	.	.	.	.	.	.	.	.	T	0.32102	0.0818	M	0.83118	2.625	0.09310	N	1	P	0.48911	0.917	P	0.47786	0.557	T	0.10730	-1.0617	6	0.30854	T	0.27	.	.	.	.	.	127	A4FU28	CTGE9_HUMAN	G	127	ENSP00000395587:S127G	ENSP00000395587:S127G	S	-	1	0	CTAGE9	132073472	0.220000	0.23631	.	.	.	.	1.079000	0.30766	.	.	.	.	AGT		0.403	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109220.1		NM_001145659		18	107	0	0	0	0.014323	0	18	107		
FNDC1	84624	broad.mit.edu	37	6	159654483	159654483	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:159654483G>A	ENST00000297267.9	+	11	3139	c.2939G>A	c.(2938-2940)cGt>cAt	p.R980H	FNDC1_ENST00000340366.6_Missense_Mutation_p.R917H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	980					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCCCCTGCTCGTCCGCCCGCA	0.662																																						uc010kjv.2		NaN																	0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(2938-2940)CGT>CAT		fibronectin type III domain containing 1							31.0	38.0	36.0					6																	159654483		2193	4284	6477	SO:0001583	missense	84624					extracellular region		g.chr6:159654483G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2939G>A	6.37:g.159654483G>A	ENSP00000297267:p.Arg980His					FNDC1_uc010kjw.1_Missense_Mutation_p.R865H	p.R980H	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3139	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	980					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2939G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873953	0.33069	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.09445	2.98;3.78	3.2	1.37	0.22104	.	1.131530	0.06576	N	0.749466	T	0.04588	0.0125	L	0.29908	0.895	0.09310	N	1	D;D	0.69078	0.997;0.995	P;P	0.56343	0.796;0.63	T	0.28776	-1.0033	10	0.14656	T	0.56	-0.0179	4.2597	0.10735	0.1346:0.2408:0.6246:0.0	.	917;980	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	980;917	ENSP00000297267:R980H;ENSP00000342460:R917H	ENSP00000297267:R980H	R	+	2	0	FNDC1	159574473	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.231000	0.17872	0.367000	0.24454	0.555000	0.69702	CGT		0.662	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3		NM_032532		5	15	0	0	0	0.006214	0	5	15		
MEOX2	4223	broad.mit.edu	37	7	15652118	15652118	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:15652118G>C	ENST00000262041.5	-	3	1218	c.809C>G	c.(808-810)tCa>tGa	p.S270*		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	270					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CGACAGCTCTGATGGGAGAAG	0.537																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	uc003stc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(808-810)TCA>TGA		mesenchyme homeobox 2							190.0	179.0	183.0					7																	15652118		2203	4300	6503	SO:0001587	stop_gained	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15652118G>C		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.809C>G	7.37:g.15652118G>C	ENSP00000262041:p.Ser270*					MEOX2_uc011jxw.1_Nonsense_Mutation_p.S270*	p.S270*	NM_005924	NP_005915	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	3	1090	-			270					B2R8I7|O75263|Q9UPL6	Nonsense_Mutation	SNP	ENST00000262041.5	37	c.809C>G	CCDS34605.1	.	.	.	.	.	.	.	.	.	.	G	35	5.446053	0.96187	.	.	ENSG00000106511	ENST00000262041	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-5.3347	19.4309	0.94765	0.0:0.0:1.0:0.0	.	.	.	.	X	270	.	ENSP00000262041:S270X	S	-	2	0	MEOX2	15618643	1.000000	0.71417	0.411000	0.26484	0.203000	0.24098	9.434000	0.97515	2.595000	0.87683	0.563000	0.77884	TCA		0.537	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2		NM_005924		10	176	0	0	0	0.006214	0	10	176		
CRHR2	1395	broad.mit.edu	37	7	30704745	30704745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:30704745G>A	ENST00000471646.1	-	5	901	c.484C>T	c.(484-486)Cga>Tga	p.R162*	CRHR2_ENST00000348438.4_Nonsense_Mutation_p.R189*|CRHR2_ENST00000506074.2_Nonsense_Mutation_p.R162*|CRHR2_ENST00000341843.4_Nonsense_Mutation_p.R148*	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	162					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATGACATTTCGCAGGATAAAG	0.572																																						uc003tbn.2		NaN																	0				lung(2)|ovary(1)|skin(1)	4						c.(484-486)CGA>TGA		corticotropin releasing hormone receptor 2							113.0	91.0	98.0					7																	30704745		2203	4300	6503	SO:0001587	stop_gained	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30704745G>A		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.484C>T	7.37:g.30704745G>A	ENSP00000418722:p.Arg162*					CRHR2_uc010kvw.1_Nonsense_Mutation_p.R162*|CRHR2_uc010kvx.1_Nonsense_Mutation_p.R161*|CRHR2_uc010kvy.1_5'UTR|CRHR2_uc003tbo.2_Nonsense_Mutation_p.R148*|CRHR2_uc003tbp.2_Nonsense_Mutation_p.R189*	p.R162*	NM_001883	NP_001874	Q13324	CRFR2_HUMAN			5	728	-			162			Helical; Name=2; (Potential).		B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Nonsense_Mutation	SNP	ENST00000471646.1	37	c.484C>T	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.868136	0.72065	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	.	.	.	4.28	-6.68	0.01778	.	0.102710	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4841	0.67603	0.0:0.0896:0.1384:0.7719	.	.	.	.	X	162;189;148;162	.	ENSP00000344304:R148X	R	-	1	2	CRHR2	30671270	0.966000	0.33281	0.022000	0.16811	0.990000	0.78478	0.060000	0.14342	-1.312000	0.02306	0.655000	0.94253	CGA		0.572	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3				6	81	0	0	0	0.02938	0	6	81		
SBDS	51119	broad.mit.edu	37	7	66459244	66459244	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:66459244G>A	ENST00000246868.2	-	2	396	c.213C>T	c.(211-213)ctC>ctT	p.L71L	TYW1_ENST00000359626.5_5'Flank	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	71					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						ACGCACTGATGAGATCTTCCT	0.428			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome																													uc003tvm.1		NaN	yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Gene Conversion	Shwachman-Bodian-Diamond syndrome protein			L		AML|MDS			0				ovary(1)	1						c.(211-213)CTC>CTT		Shwachman-Bodian-Diamond syndrome protein							151.0	130.0	137.0					7																	66459244		2203	4300	6503	SO:0001819	synonymous_variant	51119	Shwachman-Diamond_syndrome	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding	g.chr7:66459244G>A	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.213C>T	7.37:g.66459244G>A						TYW1_uc003tvn.2_5'Flank|TYW1_uc010lai.2_5'Flank	p.L71L	NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN			2	397	-			71					A8K0P4|Q96FX0|Q9NV53	Silent	SNP	ENST00000246868.2	37	c.213C>T	CCDS5537.1																																																																																				0.428	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2		NM_016038		9	119	0	0	0	0.013537	0	9	119		
PPP1R9A	55607	broad.mit.edu	37	7	94917928	94917928	+	Silent	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:94917928T>C	ENST00000433881.1	+	15	3514	c.2982T>C	c.(2980-2982)tcT>tcC	p.S994S	PPP1R9A_ENST00000433360.1_Silent_p.S1270S|PPP1R9A_ENST00000424654.1_Intron|PPP1R9A_ENST00000340694.4_Silent_p.S994S|PPP1R9A_ENST00000456331.2_Intron|PPP1R9A_ENST00000289495.5_Silent_p.S1192S			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	994	Interacts with TGN38. {ECO:0000250}.|SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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)			AGCAGGTTTCTCACTGGTTAA	0.448										HNSCC(28;0.073)																												uc003unp.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(2980-2982)TCT>TCC		protein phosphatase 1, regulatory (inhibitor)							185.0	154.0	164.0					7																	94917928		2203	4300	6503	SO:0001819	synonymous_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94917928T>C	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.2982T>C	7.37:g.94917928T>C		HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Silent_p.S1270S|PPP1R9A_uc011kif.1_Silent_p.S1192S|PPP1R9A_uc003unq.2_Intron|PPP1R9A_uc011kig.1_Silent_p.S986S|PPP1R9A_uc003unr.2_Silent_p.S283S	p.S994S	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		15	3264	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		994			Interacts with TGN38 (By similarity).|SAM.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	c.2982T>C	CCDS34683.1																																																																																				0.448	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1		NM_001166160		12	100	0	0	0	0.013537	0	12	100		
MUC17	140453	broad.mit.edu	37	7	100679464	100679464	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:100679464G>C	ENST00000306151.4	+	3	4831	c.4767G>C	c.(4765-4767)gaG>gaC	p.E1589D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1589	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGTTCTGAGGCTAACACCC	0.488																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4765-4767)GAG>GAC		mucin 17 precursor							245.0	232.0	236.0					7																	100679464		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679464G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4767G>C	7.37:g.100679464G>C	ENSP00000302716:p.Glu1589Asp					MUC17_uc010lho.1_RNA	p.E1589D	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4820	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1589			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|24.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4767G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.877	-0.729921	0.03135	.	.	ENSG00000169876	ENST00000306151	T	0.02552	4.25	0.463	-0.925	0.10458	.	.	.	.	.	T	0.01976	0.0062	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.49615	-0.8921	8	0.13853	T	0.58	.	.	.	.	.	1589	Q685J3	MUC17_HUMAN	D	1589	ENSP00000302716:E1589D	ENSP00000302716:E1589D	E	+	3	2	MUC17	100466184	.	.	0.001000	0.08648	0.033000	0.12548	.	.	-0.449000	0.07117	0.089000	0.15464	GAG		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		26	383	0	0	0	0.021523	0	26	383		
HYAL4	23553	broad.mit.edu	37	7	123516944	123516944	+	Missense_Mutation	SNP	C	C	T	rs150077532	byFrequency	TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:123516944C>T	ENST00000223026.4	+	5	1819	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	HYAL4_ENST00000476325.1_Missense_Mutation_p.A394V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	394					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						ATGTGGAACGCGCCCAGTTAC	0.507													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18340	0.0		0.0	False		,,,				2504	0.0					uc003vlc.2		NaN																	0				skin(1)	1						c.(1180-1182)GCG>GTG		hyaluronoglucosaminidase 4		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	136.0	125.0	129.0		1181	5.0	0.0	7	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HYAL4	NM_012269.2	64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	394/482	123516944	2,13004	2203	4300	6503	SO:0001583	missense	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123516944C>T	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.1181C>T	7.37:g.123516944C>T	ENSP00000223026:p.Ala394Val					HYAL4_uc011knz.1_3'UTR	p.A394V	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN			5	1819	+			394			Extracellular (Potential).		D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	c.1181C>T	CCDS5789.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.78	2.039191	0.35989	2.27E-4	1.16E-4	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.18338	2.22;2.22	5.86	4.99	0.66335	Epidermal growth factor-like (1);	0.340710	0.29459	N	0.012084	T	0.19005	0.0456	L	0.58101	1.795	0.09310	N	1	P	0.36837	0.571	B	0.31390	0.129	T	0.13737	-1.0498	10	0.72032	D	0.01	-3.3424	15.0272	0.71680	0.0:0.9312:0.0:0.0688	.	394	Q2M3T9	HYAL4_HUMAN	V	394	ENSP00000223026:A394V;ENSP00000417186:A394V	ENSP00000223026:A394V	A	+	2	0	HYAL4	123304180	0.061000	0.20836	0.003000	0.11579	0.002000	0.02628	2.345000	0.44018	1.630000	0.50440	0.650000	0.86243	GCG		0.507	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1		NM_012269		21	72	0	0	0	0.012319	0	21	72		
CCDC136	64753	broad.mit.edu	37	7	128452358	128452358	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:128452358G>C	ENST00000297788.4	+	13	2900	c.2533G>C	c.(2533-2535)Gac>Cac	p.D845H	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	845						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TGAGCCTGAAGACATGGAGGT	0.522																																						uc003vnv.1		NaN																	0				ovary(2)	2						c.(2533-2535)GAC>CAC		coiled-coil domain containing 136							27.0	26.0	26.0					7																	128452358		2000	4159	6159	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128452358G>C		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.2533G>C	7.37:g.128452358G>C	ENSP00000297788:p.Asp845His					CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.D661H|CCDC136_uc010llq.1_Missense_Mutation_p.D214H|CCDC136_uc003vny.1_Missense_Mutation_p.D455H	p.D845H	NM_022742	NP_073579	Q96JN2	CC136_HUMAN			13	2900	+			845					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.2533G>C	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.074336|4.074336	0.76415|0.76415	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672|ENST00000494552	T|.	0.36520|.	1.25|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.286751|.	0.30732|.	N|.	0.008983|.	T|T	0.73016|0.73016	0.3533|0.3533	M|M	0.66939|0.66939	2.045|2.045	0.37959|0.37959	D|D	0.93291|0.93291	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.81914|.	0.987;0.976;0.995|.	T|T	0.73751|0.73751	-0.3884|-0.3884	10|5	0.87932|.	D|.	0|.	-24.5856|-24.5856	15.8377|15.8377	0.78811|0.78811	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	845;845;845|.	Q96JN2-4;Q96JN2-2;Q96JN2|.	.;.;CC136_HUMAN|.	H|N	845;845;845;436|721	ENSP00000297788:D845H|.	ENSP00000297788:D845H|.	D|K	+|+	1|3	0|2	CCDC136|CCDC136	128239594|128239594	0.977000|0.977000	0.34250|0.34250	0.975000|0.975000	0.42487|0.42487	0.038000|0.038000	0.13279|0.13279	4.342000|4.342000	0.59341|0.59341	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GAC|AAG		0.522	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1		NM_022742		3	15	0	0	0	0.004672	0	3	15		
OR2A12	346525	broad.mit.edu	37	7	143792375	143792375	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:143792375T>C	ENST00000408949.2	+	1	235	c.175T>C	c.(175-177)Tat>Cat	p.Y59H		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CACACCCATGTATGTCTTCCT	0.463																																						uc011kty.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(175-177)TAT>CAT		olfactory receptor, family 2, subfamily A,							166.0	160.0	162.0					7																	143792375		2075	4239	6314	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792375T>C		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.175T>C	7.37:g.143792375T>C	ENSP00000386174:p.Tyr59His						p.Y59H	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			1	175	+	Melanoma(164;0.0783)		59			Helical; Name=2; (Potential).		Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.175T>C	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.516615	0.44763	.	.	ENSG00000221858	ENST00000408949	T	0.11712	2.75	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.45895	0.1365	H	0.97340	3.985	0.37976	D	0.933434	D	0.89917	1.0	D	0.75484	0.986	T	0.66304	-0.5957	9	0.87932	D	0	-12.3091	11.3678	0.49681	0.0:0.0:0.0:1.0	.	59	Q8NGT7	O2A12_HUMAN	H	59	ENSP00000386174:Y59H	ENSP00000386174:Y59H	Y	+	1	0	OR2A12	143423308	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	7.665000	0.83852	1.788000	0.52465	0.413000	0.27773	TAT		0.463	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1				5	109	0	0	0	0.021553	0	5	109		
CNTNAP2	26047	broad.mit.edu	37	7	147600794	147600794	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:147600794G>A	ENST00000361727.3	+	14	2752	c.2236G>A	c.(2236-2238)Gac>Aac	p.D746N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	746	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGTAACTGCGACGCGGACTA	0.547										HNSCC(39;0.1)																												uc003weu.1		NaN																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2236-2238)GAC>AAC		cell recognition molecule Caspr2 precursor							62.0	50.0	54.0					7																	147600794		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147600794G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2236G>A	7.37:g.147600794G>A	ENSP00000354778:p.Asp746Asn	HNSCC(39;0.1)					p.D746N	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		14	2752	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	746			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2236G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115688	0.94339	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	T;T	0.37915	1.17;1.17	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.68081	0.2962	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73811	-0.3865	10	0.87932	D	0	.	18.4119	0.90554	0.0:0.0:1.0:0.0	.	746	Q9UHC6	CNTP2_HUMAN	N	746;137	ENSP00000354778:D746N;ENSP00000392208:D137N	ENSP00000354778:D746N	D	+	1	0	CNTNAP2	147231727	1.000000	0.71417	0.335000	0.25508	0.963000	0.63663	9.756000	0.98918	2.700000	0.92200	0.563000	0.77884	GAC		0.547	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1				8	30	0	0	0	0.004482	0	8	30		
NOS3	4846	broad.mit.edu	37	7	150696071	150696071	+	Missense_Mutation	SNP	G	G	A	rs374834315		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:150696071G>A	ENST00000484524.1	+	7	854	c.854G>A	c.(853-855)cGc>cAc	p.R285H	NOS3_ENST00000297494.3_Missense_Mutation_p.R285H|NOS3_ENST00000467517.1_Missense_Mutation_p.R285H|NOS3_ENST00000461406.1_Missense_Mutation_p.R79H	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAAACGGTCGCTTCGACGTG	0.672																																						uc003wif.2		NaN																	0				central_nervous_system(5)|large_intestine(2)|skin(1)	8						c.(853-855)CGC>CAC		nitric oxide synthase 3 isoform 1	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	52.0	61.0	58.0		854,854,854,854	5.3	1.0	7		58	0,8578		0,0,4289	no	missense,missense,missense,missense	NOS3	NM_000603.4,NM_001160109.1,NM_001160110.1,NM_001160111.1	29,29,29,29	0,1,6490	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	285/1204,285/597,285/615,285/630	150696071	1,12981	2202	4289	6491	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150696071G>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.854G>A	7.37:g.150696071G>A	ENSP00000420215:p.Arg285His					NOS3_uc011kuy.1_Missense_Mutation_p.R79H|NOS3_uc011kuz.1_Missense_Mutation_p.R285H|NOS3_uc011kva.1_Missense_Mutation_p.R285H|NOS3_uc011kvb.1_Missense_Mutation_p.R285H	p.R285H	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	8	1150	+	all_neural(206;0.219)		285			Interaction with NOSIP.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.854G>A	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	g	25.4	4.635389	0.87760	2.27E-4	0.0	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.28	5.28	0.74379	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.56097	D	0.000037	T	0.48205	0.1487	L	0.60904	1.88	0.58432	D	0.999996	B;P;D;D;P	0.89917	0.209;0.518;1.0;1.0;0.688	B;B;D;D;B	0.72625	0.068;0.068;0.972;0.978;0.25	T	0.45542	-0.9254	10	0.87932	D	0	-4.9245	16.7703	0.85535	0.0:0.0:1.0:0.0	.	285;285;285;79;285	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	H	285;79;285;285	ENSP00000297494:R285H;ENSP00000417143:R79H;ENSP00000420215:R285H;ENSP00000420551:R285H	ENSP00000297494:R285H	R	+	2	0	NOS3	150327004	1.000000	0.71417	0.979000	0.43373	0.709000	0.40893	7.955000	0.87856	2.618000	0.88619	0.637000	0.83480	CGC		0.672	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1		NM_000603		36	133	0	0	0	0.017118	0	36	133		
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	741	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627																																						uc003wwm.2		NaN																	0				ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(2221-2223)AGC>ACC		deleted in liver cancer 1 isoform 1							56.0	47.0	50.0					8																	12957624		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957624C>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2222G>C	8.37:g.12957624C>G	ENSP00000276297:p.Ser741Thr					DLC1_uc003wwk.1_Missense_Mutation_p.S304T|DLC1_uc003wwl.1_Missense_Mutation_p.S338T|DLC1_uc011kxx.1_Missense_Mutation_p.S230T	p.S741T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			9	2666	-			741			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2222G>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320479	0.81469	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07688	3.42;3.19;3.19;3.17	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.80422	2.495	0.80722	D	1	D;B;D	0.65815	0.995;0.103;0.99	P;B;D	0.72982	0.795;0.132;0.979	T	0.09975	-1.0650	10	0.66056	D	0.02	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	741;338;304	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	741;304;338;230	ENSP00000276297:S741T;ENSP00000351797:S304T;ENSP00000422595:S338T;ENSP00000428028:S230T	ENSP00000276297:S741T	S	-	2	0	DLC1	13001995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	2.527000	0.85204	0.561000	0.74099	AGC		0.627	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2		NM_182643, NM_006094		6	82	0	0	0	0.02938	0	6	82		
VDAC3	7419	broad.mit.edu	37	8	42260958	42260958	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr8:42260958G>A	ENST00000022615.4	+	8	749	c.681G>A	c.(679-681)ctG>ctA	p.L227L	VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000521158.1_Silent_p.L228L|VDAC3_ENST00000392935.3_Silent_p.L228L			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	227					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AGTACATGCTGGATTGTAGAA	0.413																																						uc011lct.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.(679-681)CTG>CTA		voltage-dependent anion channel 3 isoform b	Dihydroxyaluminium(DB01375)						200.0	176.0	184.0					8																	42260958		2203	4300	6503	SO:0001819	synonymous_variant	7419				adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr8:42260958G>A	AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"""Voltage-dependent anion channels"""	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.681G>A	8.37:g.42260958G>A						VDAC3_uc003xpc.2_Silent_p.L228L	p.L227L	NM_005662	NP_005653	Q9Y277	VDAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		8	824	+	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	227			Beta stranded; (By similarity).		Q9UIS0	Silent	SNP	ENST00000022615.4	37	c.681G>A	CCDS6131.1																																																																																				0.413	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377574.1				4	113	0	0	0	0.009096	0	4	113		
ZNF704	619279	broad.mit.edu	37	8	81582753	81582753	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr8:81582753C>T	ENST00000327835.3	-	5	875	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	ZNF704_ENST00000520336.1_5'UTR	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	215							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			ATGGATGGTTCGGATGTGTTT	0.527																																						uc003yby.1		NaN																	0					0						c.(643-645)CGA>CAA		zinc finger protein 704							184.0	148.0	160.0					8																	81582753		2203	4300	6503	SO:0001583	missense	619279					intracellular	zinc ion binding	g.chr8:81582753C>T	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.644G>A	8.37:g.81582753C>T	ENSP00000331462:p.Arg215Gln						p.R215Q	NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		5	876	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		215			C2H2-type.		B2RNE6|B9EGW6	Missense_Mutation	SNP	ENST00000327835.3	37	c.644G>A	CCDS34913.1	.	.	.	.	.	.	.	.	.	.	C	36	5.920858	0.97105	.	.	ENSG00000164684	ENST00000327835	T	0.60424	0.19	5.63	5.63	0.86233	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.78368	0.4272	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79999	-0.1566	10	0.72032	D	0.01	-17.2326	19.7096	0.96089	0.0:1.0:0.0:0.0	.	215	Q6ZNC4	ZN704_HUMAN	Q	215	ENSP00000331462:R215Q	ENSP00000331462:R215Q	R	-	2	0	ZNF704	81745308	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	7.711000	0.84669	2.652000	0.90054	0.655000	0.94253	CGA		0.527	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2		NM_001033723		10	114	0	0	0	0.016723	0	10	114		
CTHRC1	115908	broad.mit.edu	37	8	104394752	104394752	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr8:104394752C>T	ENST00000330295.5	+	4	798	c.656C>T	c.(655-657)tCa>tTa	p.S219L	CTHRC1_ENST00000520337.1_Missense_Mutation_p.S205L|CTHRC1_ENST00000520880.1_Missense_Mutation_p.S89L|RNU6-1011P_ENST00000384668.1_RNA|RP11-1C8.6_ENST00000577199.1_lincRNA	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	219					cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GGTACTTGTTCAGATTACCCA	0.373																																						uc003ylk.2		NaN																	0				ovary(1)	1						c.(655-657)TCA>TTA		collagen triple helix repeat containing 1							287.0	271.0	277.0					8																	104394752		2203	4300	6503	SO:0001583	missense	115908					collagen		g.chr8:104394752C>T	BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.656C>T	8.37:g.104394752C>T	ENSP00000330523:p.Ser219Leu						p.S219L	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		4	755	+			219					G3V141|Q6UW91|Q8IX63	Missense_Mutation	SNP	ENST00000330295.5	37	c.656C>T	CCDS6299.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087619	0.55968	.	.	ENSG00000164932	ENST00000330295;ENST00000520337;ENST00000297577;ENST00000520880	T;T	0.65364	-0.15;0.87	5.39	5.39	0.77823	.	0.331079	0.32868	N	0.005541	T	0.55513	0.1925	L	0.38531	1.155	0.53005	D	0.999962	B	0.27625	0.183	B	0.19666	0.026	T	0.55995	-0.8052	10	0.66056	D	0.02	-24.069	19.1494	0.93482	0.0:1.0:0.0:0.0	.	219	Q96CG8	CTHR1_HUMAN	L	219;205;205;89	ENSP00000330523:S219L;ENSP00000430550:S205L	ENSP00000297577:S205L	S	+	2	0	CTHRC1	104463928	0.987000	0.35691	1.000000	0.80357	0.990000	0.78478	4.438000	0.59961	2.533000	0.85409	0.655000	0.94253	TCA		0.373	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1		NM_138455		11	118	0	0	0	0.024245	0	11	118		
CTHRC1	115908	broad.mit.edu	37	8	104394804	104394804	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr8:104394804C>T	ENST00000330295.5	+	4	850	c.708C>T	c.(706-708)atC>atT	p.I236I	CTHRC1_ENST00000520337.1_Silent_p.I222I|CTHRC1_ENST00000520880.1_Silent_p.I106I|RNU6-1011P_ENST00000384668.1_RNA|RP11-1C8.6_ENST00000577199.1_lincRNA	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	236					cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TTTCTCGCATCATTATTGAAG	0.343																																						uc003ylk.2		NaN																	0				ovary(1)	1						c.(706-708)ATC>ATT		collagen triple helix repeat containing 1							194.0	194.0	194.0					8																	104394804		2203	4300	6503	SO:0001819	synonymous_variant	115908					collagen		g.chr8:104394804C>T	BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.708C>T	8.37:g.104394804C>T							p.I236I	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		4	807	+			236					G3V141|Q6UW91|Q8IX63	Silent	SNP	ENST00000330295.5	37	c.708C>T	CCDS6299.1																																																																																				0.343	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1		NM_138455		9	92	0	0	0	0.008291	0	9	92		
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					uc003zoe.2		NaN		Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)		lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	lung(2)|ovary(1)	3						c.(499-501)AGT>AGC		myeloid/lymphoid or mixed-lineage leukemia							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.V129A	p.S167S	NM_004529	NP_004520	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	760	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1		NM_004529		4	33	0	0	0	0.00308	0	4	33		
BAAT	570	broad.mit.edu	37	9	104124824	104124824	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr9:104124824C>T	ENST00000395051.3	-	3	1213	c.1143G>A	c.(1141-1143)agG>agA	p.R381R	BAAT_ENST00000259407.2_Silent_p.R381R			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	381					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CCCAGTGTAACCTCAAATCGT	0.537																																						uc010mtd.2		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(1141-1143)AGG>AGA		bile acid Coenzyme A: amino acid	Glycine(DB00145)						170.0	148.0	156.0					9																	104124824		2203	4300	6503	SO:0001819	synonymous_variant	570				acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity	g.chr9:104124824C>T	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.1143G>A	9.37:g.104124824C>T						BAAT_uc004bbd.3_Silent_p.R381R	p.R381R	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN			4	1252	-		Acute lymphoblastic leukemia(62;0.0559)	381					Q3B7W9|Q96L31	Silent	SNP	ENST00000395051.3	37	c.1143G>A	CCDS6752.1																																																																																				0.537	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1				6	47	0	0	0	0.021553	0	6	47		
AMBP	259	broad.mit.edu	37	9	116840418	116840418	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr9:116840418C>T	ENST00000265132.3	-	1	334	c.72G>A	c.(70-72)acG>acA	p.T24T		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	24					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGTCGGGCGGCGTTGGCACAG	0.617																																						uc004bie.3		NaN																	0				skin(1)	1						c.(70-72)ACG>ACA		alpha-1-microglobulin/bikunin preproprotein	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						108.0	118.0	114.0					9																	116840418		2203	4300	6503	SO:0001819	synonymous_variant	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116840418C>T	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.72G>A	9.37:g.116840418C>T						AMBP_uc011lxk.1_5'Flank|AMBP_uc010mvc.1_RNA	p.T24T	NM_001633	NP_001624	P02760	AMBP_HUMAN			1	335	-			24					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Silent	SNP	ENST00000265132.3	37	c.72G>A	CCDS6800.1																																																																																				0.617	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2		NM_001633		9	88	0	0	0	0.006214	0	9	88		
ACE2	59272	broad.mit.edu	37	X	15605982	15605982	+	Splice_Site	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chrX:15605982C>A	ENST00000252519.3	-	6	799		c.e6-1		ACE2_ENST00000427411.1_Splice_Site			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2						angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.?(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	ATGGTTTAATCTGAAAAGCCC	0.368																																						uc004cxa.1		NaN																	1	Unknown(1)		lung(1)	ovary(3)	3						c.e6-1		angiotensin I converting enzyme 2 precursor	Moexipril(DB00691)						86.0	78.0	81.0					X																	15605982		2203	4300	6503	SO:0001630	splice_region_variant	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15605982C>A	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.697-1G>T	X.37:g.15605982C>A						ACE2_uc004cxb.2_Splice_Site_p.I233_splice	p.I233_splice	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN			6	865	-	Hepatocellular(33;0.183)							C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Splice_Site	SNP	ENST00000252519.3	37	c.697_splice	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	c	15.03	2.711792	0.48517	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0729	0.93147	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACE2	15515903	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	7.292000	0.78731	2.454000	0.82982	0.597000	0.82753	.		0.368	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			Intron	14	16	1	0	2.32078e-09	0.024245	2.64741e-09	14	16		
MBTPS2	51360	broad.mit.edu	37	X	21863399	21863399	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chrX:21863399C>T	ENST00000379484.5	+	3	434	c.335C>T	c.(334-336)tCt>tTt	p.S112F	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Missense_Mutation_p.S112F	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	112	Poly-Ser.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						tctccctcttcttattcttcc	0.438																																						uc010nfq.2		NaN																	0				breast(1)|skin(1)	2						c.(334-336)TCT>TTT		YY2 transcription factor							190.0	156.0	168.0					X																	21863399		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21863399C>T	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.335C>T	X.37:g.21863399C>T	ENSP00000368798:p.Ser112Phe					MBTPS2_uc004dae.2_Missense_Mutation_p.S112F|MBTPS2_uc004dab.2_Missense_Mutation_p.S112F	p.S112F	NM_206923	NP_996806	O15391	TYY2_HUMAN			3	532	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q9UM70|Q9UMD3	Missense_Mutation	SNP	ENST00000379484.5	37	c.335C>T	CCDS14201.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176455	0.57692	.	.	ENSG00000012174	ENST00000379484;ENST00000365779	D;D	0.94046	-3.34;-2.17	5.19	3.18	0.36537	.	0.724226	0.14303	N	0.328161	D	0.88112	0.6349	L	0.40543	1.245	0.09310	N	1	P;B;B	0.36616	0.561;0.261;0.004	B;B;B	0.34242	0.178;0.091;0.008	T	0.73360	-0.4007	10	0.10111	T	0.7	-0.6262	13.0859	0.59140	0.1814:0.8186:0.0:0.0	.	112;112;112	A8KA68;O43462;B9ZVQ3	.;MBTP2_HUMAN;.	F	112	ENSP00000368798:S112F;ENSP00000368796:S112F	ENSP00000368796:S112F	S	+	2	0	MBTPS2	21773320	.	.	0.508000	0.27688	0.976000	0.68499	.	.	0.426000	0.26116	0.544000	0.68410	TCT		0.438	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1				8	60	0	0	0	0.006214	0	8	60		
ARID1A	8289	broad.mit.edu	37	1	27057789	27057790	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:27057789_27057790insT	ENST00000324856.7	+	3	1868_1869	c.1497_1498insT	c.(1498-1500)tatfs	p.Y500fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.Y500fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.Y117fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	500					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCAACCTTCGTATCAGCAGCA	0.604			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(1495-1500)TCGTATfs		AT rich interactive domain 1A isoform a																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27057789_27057790insT	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1498dupT	1.37:g.27057790_27057790dupT	ENSP00000320485:p.Tyr500fs					ARID1A_uc001bmt.1_Frame_Shift_Ins_p.S499fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.S499fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.S116fs	p.S499fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	3	1870_1871	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	499_500					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.1497_1498insT	CCDS285.1																																																																																				0.604	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		240	357	NaN	NaN	NaN	NaN	NaN	240	357	---	---
C10orf71	118461	broad.mit.edu	37	10	50534970	50534971	+	3'UTR	DEL	AC	AC	-	rs72337199		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr10:50534970_50534971delAC	ENST00000374144.3	+	0	4668_4669				C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71									p.?(1)		endometrium(1)	1						AAAACAAGCAacacacacacac	0.5																																						uc010qgp.1		NaN																	1	Unknown(1)		prostate(1)		0						c.(2068-2070)AACfs		hypothetical protein LOC118461 isoform 2																																				SO:0001624	3_prime_UTR_variant	118461							g.chr10:50534970_50534971delAC	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.*73AC>-	10.37:g.50534980_50534981delAC							p.N690fs	NM_199459	NP_955629	Q711Q0	CJ071_HUMAN			4	2408_2409	+			690					A0AVL8	Frame_Shift_Del	DEL	ENST00000374144.3	37	c.2069_2070delAC	CCDS44387.1																																																																																				0.500	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2		NM_199459		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-	rs377505007		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:281553_281555delGAG	ENST00000312165.5	+	4	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_ENST00000534750.1_In_Frame_Del_p.E611del	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.67																																						uc010qvs.1		NaN																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(1819-1821)GAGdel		NLR family, pyrin domain containing 6																																				SO:0001651	inframe_deletion	171389					cytoplasm	ATP binding	g.chr11:281553_281555delGAG	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1819_1821delGAG	11.37:g.281562_281564delGAG	ENSP00000309767:p.Glu611del					NLRP6_uc010qvt.1_In_Frame_Del_p.E611del	p.E611del	NM_138329	NP_612202	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	1819_1821	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	In_Frame_Del	DEL	ENST00000312165.5	37	c.1819_1821delGAG	CCDS7693.1																																																																																				0.670	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1		NM_138329		7	187	NaN	NaN	NaN	NaN	NaN	7	187	---	---
FOXA1	3169	broad.mit.edu	37	14	38061857	38061858	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr14:38061857_38061858insA	ENST00000250448.2	-	2	192_193	c.131_132insT	c.(130-132)atgfs	p.M44fs	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Ins_p.M11fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	44					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TGTAGGTGTTCATGGAGTTCAT	0.614																																						uc001wuf.2		NaN																	0					0						c.(130-132)ATGfs		forkhead box A1																																				SO:0001589	frameshift_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061857_38061858insA	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.132dupT	14.37:g.38061858_38061858dupA	ENSP00000250448:p.Met44fs					FOXA1_uc010tpz.1_Frame_Shift_Ins_p.M11fs	p.M44fs	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	443_444	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		44					B2R9H6|B7ZAP5|Q9H2A0	Frame_Shift_Ins	INS	ENST00000250448.2	37	c.131_132insT	CCDS9665.1																																																																																				0.614	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1				18	96	NaN	NaN	NaN	NaN	NaN	18	96	---	---
FAM104A	84923	broad.mit.edu	37	17	71223344	71223346	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr17:71223344_71223346delCTT	ENST00000403627.3	-	2	339_341	c.279_281delAAG	c.(277-282)agaagt>agt	p.R93del	FAM104A_ENST00000405159.3_In_Frame_Del_p.R93del|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583178.1_5'UTR	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	93										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			GTTTCTGCTACTTCTTTTGGTCT	0.409																																						uc002jji.3		NaN																	0					0						c.(277-282)AGAAGT>AGT		hypothetical protein LOC84923 isoform 2																																				SO:0001651	inframe_deletion	84923							g.chr17:71223344_71223346delCTT	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.279_281delAAG	17.37:g.71223347_71223349delCTT	ENSP00000384648:p.Arg93del					FAM104A_uc002jjj.3_In_Frame_Del_p.R93del	p.R93del	NM_032837	NP_116226	Q969W3	F104A_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	367_369	-			93					B4E339	In_Frame_Del	DEL	ENST00000403627.3	37	c.279_281delAAG	CCDS11693.2																																																																																				0.409	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1		NM_032837		7	66	NaN	NaN	NaN	NaN	NaN	7	66	---	---
PRX	57716	broad.mit.edu	37	19	40900180	40900182	+	In_Frame_Del	DEL	TCC	TCC	-	rs139624657|rs377069149|rs142743305		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:40900180_40900182delTCC	ENST00000324001.7	-	7	4347_4349	c.4077_4079delGGA	c.(4075-4080)gaggaa>gaa	p.1359_1360EE>E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1359	Poly-Glu.		Missing. {ECO:0000269|PubMed:11133365}.		axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGCcctcttcctcctcctcct	0.695																																						uc002onr.2		NaN																	0				ovary(2)	2						c.(4075-4080)GAGGAA>GAA		periaxin isoform 2																																				SO:0001651	inframe_deletion	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40900180_40900182delTCC	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.4077_4079delGGA	19.37:g.40900189_40900191delTCC	ENSP00000326018:p.Glu1361del					PRX_uc002onq.2_In_Frame_Del_p.1220_1221EE>E|PRX_uc002ons.2_3'UTR	p.1359_1360EE>E	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	4346_4348	-			1359_1360			Poly-Glu.		Q9BXL9|Q9HCF2	In_Frame_Del	DEL	ENST00000324001.7	37	c.4077_4079delGGA	CCDS33028.1																																																																																				0.695	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1		NM_020956		7	91	NaN	NaN	NaN	NaN	NaN	7	91	---	---
IRF2BP1	26145	broad.mit.edu	37	19	46388156	46388157	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:46388156_46388157insCA	ENST00000302165.3	-	1	1219_1220	c.876_877insTG	c.(874-879)gtggctfs	p.A293fs		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	293					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		ATCTGGCGAGCCACTGCCAGGA	0.594																																						uc002pds.1		NaN																	0					0						c.(874-879)GTGGCTfs		interferon regulatory factor 2 binding protein																																				SO:0001589	frameshift_variant	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46388156_46388157insCA	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.875_876dupTG	19.37:g.46388157_46388158dupCA	ENSP00000307265:p.Ala293fs						p.V292fs	NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	1220_1221	-		all_neural(266;0.113)|Ovarian(192;0.127)	292_293					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Frame_Shift_Ins	INS	ENST00000302165.3	37	c.876_877insTG	CCDS12678.1																																																																																				0.594	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1		NM_015649		9	126	NaN	NaN	NaN	NaN	NaN	9	126	---	---
ZNF341	84905	broad.mit.edu	37	20	32371588	32371589	+	Frame_Shift_Ins	INS	-	-	G	rs139829835		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr20:32371588_32371589insG	ENST00000375200.1	+	12	2135_2136	c.1770_1771insG	c.(1771-1773)gggfs	p.G591fs	ZNF341_ENST00000342427.2_Frame_Shift_Ins_p.G584fs	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	591					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(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCCACGGCAGCGGGGGCAGGTT	0.614																																						uc002wzy.2		NaN																	0				ovary(2)	2						c.(1768-1773)AGCGGGfs		zinc finger protein 341																																				SO:0001589	frameshift_variant	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32371588_32371589insG	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1775dupG	20.37:g.32371593_32371593dupG	ENSP00000364346:p.Gly591fs					ZNF341_uc002wzx.2_Frame_Shift_Ins_p.S583fs|ZNF341_uc010geq.2_Frame_Shift_Ins_p.S500fs|ZNF341_uc010ger.2_RNA	p.S590fs	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN			12	1790_1791	+			590_591					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Frame_Shift_Ins	INS	ENST00000375200.1	37	c.1770_1771insG																																																																																					0.614	ZNF341-201	KNOWN	basic	protein_coding	protein_coding					11	163	NaN	NaN	NaN	NaN	NaN	11	163	---	---
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gctgca>gca	p.180_181AA>A	TMCC1_ENST00000426664.2_In_Frame_Del_p.66_67AA>A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483																																						uc003emz.3		NaN																	0				skin(1)	1						c.(538-543)GCTGCA>GCA		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129546680_129546682delGCA	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.540_542delTGC	3.37:g.129546689_129546691delGCA	ENSP00000376930:p.Ala181del					TMCC1_uc010htg.2_In_Frame_Del_p.66_67AA>A	p.180_181AA>A	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN			4	1041_1043	-			180_181					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.540_542delTGC	CCDS33855.1																																																																																				0.483	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2		NM_015008		7	64	NaN	NaN	NaN	NaN	NaN	7	64	---	---
PLEKHG4B	153478	broad.mit.edu	37	5	162962	162962	+	Frame_Shift_Del	DEL	G	G	-	rs190680228	byFrequency	TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:162962delG	ENST00000283426.6	+	11	1757	c.1707delG	c.(1705-1707)gtgfs	p.V569fs		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	569							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGGCAGGTGTGGCAGTGCTGA	0.647																																						uc003jak.2		NaN																	0				skin(2)	2						c.(1705-1707)GTGfs		pleckstrin homology domain containing, family G							27.0	28.0	28.0					5																	162962		2178	4287	6465	SO:0001589	frameshift_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:162962delG	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1707delG	5.37:g.162962delG	ENSP00000283426:p.Val569fs						p.V569fs	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	11	1757	+			569						Frame_Shift_Del	DEL	ENST00000283426.6	37	c.1707delG	CCDS34124.1																																																																																				0.647	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1		NM_052909		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
E2F3	1871	broad.mit.edu	37	6	20402595	20402597	+	In_Frame_Del	DEL	CGC	CGC	-	rs559169760	byFrequency	TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:20402595_20402597delCGC	ENST00000346618.3	+	1	198_200	c.132_134delCGC	c.(130-135)ttcgcc>ttc	p.A53del	E2F3_ENST00000535432.1_5'Flank	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	53	Poly-Ala.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			GCCCCGGCTTcgccgccgccgcc	0.724																																						uc003nda.2		NaN																	0				lung(1)	1						c.(130-135)TTCGCC>TTC		E2F transcription factor 3																																				SO:0001651	inframe_deletion	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20402595_20402597delCGC	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.132_134delCGC	6.37:g.20402604_20402606delCGC	ENSP00000262904:p.Ala53del					E2F3_uc003ncz.2_In_Frame_Del_p.A53del	p.A53del	NM_001949	NP_001940	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		1	459_461	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		53			Poly-Ala.		Q15000|Q68DT0|Q9BZ44	In_Frame_Del	DEL	ENST00000346618.3	37	c.132_134delCGC	CCDS4545.1																																																																																				0.724	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1				19	692	NaN	NaN	NaN	NaN	NaN	19	692	---	---
VGF	7425	broad.mit.edu	37	7	100807026	100807028	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:100807026_100807028delCCT	ENST00000249330.2	-	2	1336_1338	c.1097_1099delAGG	c.(1096-1101)gaggcg>gcg	p.E366del	VGF_ENST00000445482.2_In_Frame_Del_p.E366del	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	366	Asp/Glu-rich (acidic).				defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					tcctgctccgcctcctcctcctc	0.744																																						uc003uxx.3		NaN																	0					0						c.(1096-1101)GAGGCG>GCG		VGF nerve growth factor inducible precursor				10,3702		0,10,1846						0.9	1.0			9	28,7398		3,22,3688	no	coding	VGF	NM_003378.3		3,32,5534	A1A1,A1R,RR		0.3771,0.2694,0.3412				38,11100				SO:0001651	inframe_deletion	7425				response to cAMP	extracellular space|transport vesicle	growth factor activity	g.chr7:100807026_100807028delCCT	Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"""neuro-endocrine specific protein VGF"""	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.1097_1099delAGG	7.37:g.100807035_100807037delCCT	ENSP00000249330:p.Glu366del						p.E366del	NM_003378	NP_003369	O15240	VGF_HUMAN			2	1315_1317	-	Lung NSC(181;0.168)|all_lung(186;0.215)		366			Asp/Glu-rich (acidic).		Q9UDW8	In_Frame_Del	DEL	ENST00000249330.2	37	c.1097_1099delAGG	CCDS5712.1																																																																																				0.744	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347462.1		NM_003378		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
KDM6A	7403	broad.mit.edu	37	X	44833924	44833924	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chrX:44833924delC	ENST00000377967.4	+	4	389	c.348delC	c.(346-348)tacfs	p.Y116fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.Y116fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.Y116fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.Y116fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	116	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(14)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TATCTGCATACCAGAGGTACT	0.348			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		21	No detectable mRNA/protein(14)|Whole gene deletion(6)|Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(13)|oesophagus(4)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(346-348)TACfs		ubiquitously transcribed tetratricopeptide							207.0	165.0	179.0					X																	44833924		2203	4300	6503	SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44833924delC	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.348delC	X.37:g.44833924delC	ENSP00000367203:p.Tyr116fs					KDM6A_uc010nhk.2_Frame_Shift_Del_p.Y116fs|KDM6A_uc011mkz.1_Frame_Shift_Del_p.Y116fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.Y116fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.Y116fs|KDM6A_uc011mlc.1_5'UTR	p.Y116fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN			4	723	+			116			TPR 1.		Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	37	c.348delC	CCDS14265.1																																																																																				0.348	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		23	21	NaN	NaN	NaN	NaN	NaN	23	21	---	---
