#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PCDHA7	56141	broad.mit.edu	37	5	140215137	140215137	+	Missense_Mutation	SNP	C	C	T	rs550090383		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:140215137C>T	ENST00000525929.1	+	1	1169	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	PCDHA7_ENST00000378125.3_Missense_Mutation_p.T390M|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	390	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T390M(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCCTGACGCCCCGCGTT	0.542													.|||	1	0.000199681	0.0	0.0	5008	,	,		20599	0.001		0.0	False		,,,				2504	0.0				NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			2	Substitution - Missense(2)	p.T390M(2)	prostate(2)	NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1168-1170)aCg>aTg									137.0	135.0	135.0					5																	140215137		2203	4299	6502	SO:0001583	missense	0							g.chr5:140215137C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1169C>T	5.37:g.140215137C>T	ENSP00000436426:p.Thr390Met					PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.T390M	p.T390M	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1169	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1169C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	0.181	-1.062443	0.01950	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01854	4.6;4.6	4.04	0.888	0.19206	Cadherin (4);Cadherin-like (1);	0.730603	0.10108	U	0.715048	T	0.01940	0.0061	L	0.31804	0.96	0.09310	N	1	P;P	0.39759	0.687;0.555	B;B	0.38616	0.119;0.277	T	0.47484	-0.9114	10	0.38643	T	0.18	.	3.4208	0.07393	0.3335:0.4015:0.1813:0.0837	.	390;390	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	M	390	ENSP00000436426:T390M;ENSP00000367365:T390M	ENSP00000367365:T390M	T	+	2	0	PCDHA7	140195321	0.000000	0.05858	0.001000	0.08648	0.136000	0.21042	-4.674000	0.00200	0.275000	0.22094	0.305000	0.20034	ACG		0.542	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		6	293	0	0	0	0.217242	0	6	293				
HEATR5B	54497	broad.mit.edu	37	2	37283622	37283622	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:37283622A>G	ENST00000233099.5	-	16	2455	c.2360T>C	c.(2359-2361)cTt>cCt	p.L787P	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L787P	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	787						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TACACCAAAAAGGGCCACAGA	0.393																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(2359-2361)cTt>cCt		HEAT repeat containing 5B							84.0	90.0	88.0					2																	37283622		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37283622A>G	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2360T>C	2.37:g.37283622A>G	ENSP00000233099:p.Leu787Pro					HEATR5B_ENST00000354531.2_Missense_Mutation_p.L787P	p.L787P	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			16	2455	-		all_hematologic(82;0.21)	787					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2360T>C	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.474722	0.84640	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.12984	2.63;2.63	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43523	0.1251	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.51450	-0.8704	10	0.87932	D	0	-17.4894	15.5924	0.76543	1.0:0.0:0.0:0.0	.	787	Q9P2D3	HTR5B_HUMAN	P	787	ENSP00000233099:L787P;ENSP00000346531:L787P	ENSP00000233099:L787P	L	-	2	0	HEATR5B	37137126	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.287000	0.95975	2.086000	0.62901	0.482000	0.46254	CTT		0.393	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		3	175	0	0	0	0.150653	0	3	175				
SIDT2	51092	broad.mit.edu	37	11	117066583	117066583	+	Silent	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:117066583C>T	ENST00000324225.4	+	25	2919	c.2388C>T	c.(2386-2388)caC>caT	p.H796H	SIDT2_ENST00000532062.1_Silent_p.H88H|SIDT2_ENST00000431081.2_Silent_p.H793H	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	796					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)	p.H796H(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TTGACGACCACGACATCTGGC	0.602																																						ENST00000324225.4																			1	Substitution - coding silent(1)	p.H796H(1)	prostate(1)	NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2386-2388)caC>caT		SID1 transmembrane family, member 2							250.0	236.0	241.0					11																	117066583		2201	4296	6497	SO:0001819	synonymous_variant	51092					integral to membrane|lysosomal membrane		g.chr11:117066583C>T	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2388C>T	11.37:g.117066583C>T						SIDT2_ENST00000431081.2_Silent_p.H793H|SIDT2_ENST00000532062.1_Silent_p.H88H	p.H796H	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	25	2919	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	796					Q8NBY7|Q9Y357	Silent	SNP	ENST00000324225.4	37	c.2388C>T	CCDS31682.1																																																																																				0.602	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		6	466	0	0	0	0.248553	0	6	466				
NEB	4703	broad.mit.edu	37	2	152512437	152512437	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:152512437G>A	ENST00000172853.10	-	50	6743	c.6596C>T	c.(6595-6597)gCc>gTc	p.A2199V	NEB_ENST00000397345.3_Missense_Mutation_p.A2199V|NEB_ENST00000603639.1_Missense_Mutation_p.A2199V|NEB_ENST00000604864.1_Missense_Mutation_p.A2199V|NEB_ENST00000427231.2_Missense_Mutation_p.A2199V|NEB_ENST00000409198.1_Missense_Mutation_p.A2199V			P20929	NEBU_HUMAN	nebulin	2199					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.A2199V(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGATCACTGGCATATTCAGT	0.463																																						ENST00000397345.3																			2	Substitution - Missense(2)	p.A2199V(2)	kidney(2)	NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(6595-6597)gCc>gTc		nebulin							152.0	146.0	148.0					2																	152512437		1979	4154	6133	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152512437G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6596C>T	2.37:g.152512437G>A	ENSP00000172853:p.Ala2199Val					NEB_ENST00000409198.1_Missense_Mutation_p.A2199V|NEB_ENST00000172853.10_Missense_Mutation_p.A2199V|NEB_ENST00000604864.1_Missense_Mutation_p.A2199V|NEB_ENST00000427231.2_Missense_Mutation_p.A2199V|NEB_ENST00000603639.1_Missense_Mutation_p.A2199V	p.A2199V	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	50	6798	-			2199					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.6596C>T		.	.	.	.	.	.	.	.	.	.	G	10.48	1.362679	0.24684	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05513	3.43;3.5;3.51;3.43	5.3	5.3	0.74995	.	0.413845	0.24869	N	0.034960	T	0.04363	0.0120	N	0.14661	0.345	0.80722	D	1	B	0.15141	0.012	B	0.13407	0.009	T	0.49652	-0.8917	10	0.17832	T	0.49	.	12.4703	0.55783	0.0761:0.0:0.9239:0.0	.	2199	P20929	NEBU_HUMAN	V	2199	ENSP00000386259:A2199V;ENSP00000380505:A2199V;ENSP00000416578:A2199V;ENSP00000172853:A2199V	ENSP00000172853:A2199V	A	-	2	0	NEB	152220683	0.966000	0.33281	1.000000	0.80357	0.977000	0.68977	1.663000	0.37429	2.757000	0.94681	0.563000	0.77884	GCC		0.463	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		5	205	0	0	0	0.184627	0	5	205				
FGG	2266	broad.mit.edu	37	4	155532986	155532986	+	Silent	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr4:155532986T>C	ENST00000336098.3	-	4	410	c.372A>G	c.(370-372)gcA>gcG	p.A124A	FGG_ENST00000405164.1_Silent_p.A124A|FGG_ENST00000407946.1_Silent_p.A124A|FGG_ENST00000404648.3_Silent_p.A124A	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	124					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.A124A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTAAAATCGATGCTTCATATT	0.299																																						ENST00000404648.3																			1	Substitution - coding silent(1)	p.A124A(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(370-372)gcA>gcG		fibrinogen gamma chain	Sucralfate(DB00364)						86.0	89.0	88.0					4																	155532986		2203	4297	6500	SO:0001819	synonymous_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155532986T>C		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.372A>G	4.37:g.155532986T>C						FGG_ENST00000407946.1_Silent_p.A124A|FGG_ENST00000336098.3_Silent_p.A124A|FGG_ENST00000405164.1_Silent_p.A124A	p.A124A	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN			4	611	-	all_hematologic(180;0.215)	Renal(120;0.0458)	124					A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Silent	SNP	ENST00000336098.3	37	c.372A>G	CCDS3788.1																																																																																				0.299	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		28	66	0	0	0	0.693898	0	28	66				
ZMYND12	84217	broad.mit.edu	37	1	42898890	42898890	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:42898890T>G	ENST00000372565.3	-	7	1168	c.899A>C	c.(898-900)gAc>gCc	p.D300A	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Missense_Mutation_p.D190A	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	300						intracellular (GO:0005622)	metal ion binding (GO:0046872)	p.D300A(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGGGCTTTGTCAGATGTAGA	0.408																																						ENST00000372565.3																			1	Substitution - Missense(1)	p.D300A(1)	prostate(1)	NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(898-900)gAc>gCc		zinc finger, MYND-type containing 12							164.0	174.0	171.0					1																	42898890		2203	4300	6503	SO:0001583	missense	84217					intracellular	zinc ion binding	g.chr1:42898890T>G	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.899A>C	1.37:g.42898890T>G	ENSP00000361646:p.Asp300Ala					ZMYND12_ENST00000433602.2_Missense_Mutation_p.D190A|ZMYND12_ENST00000475426.1_5'UTR	p.D300A	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN			7	1168	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	300					Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	ENST00000372565.3	37	c.899A>C	CCDS467.1	.	.	.	.	.	.	.	.	.	.	T	2.233	-0.375612	0.05034	.	.	ENSG00000066185	ENST00000372565;ENST00000433602	T;T	0.56275	0.47;0.47	5.71	1.82	0.25136	.	0.983518	0.08323	N	0.963455	T	0.38108	0.1028	N	0.22421	0.69	0.09310	N	1	B;B	0.20887	0.049;0.022	B;B	0.21360	0.034;0.01	T	0.30765	-0.9967	10	0.49607	T	0.09	-0.3941	7.3162	0.26501	0.0:0.0776:0.3494:0.5731	.	190;300	E9PFV0;Q9H0C1	.;ZMY12_HUMAN	A	300;190	ENSP00000361646:D300A;ENSP00000398340:D190A	ENSP00000361646:D300A	D	-	2	0	ZMYND12	42671477	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.401000	0.20948	0.033000	0.15463	0.533000	0.62120	GAC		0.408	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		33	452	0	0	0	0.760397	0	33	452				
ZNF521	25925	broad.mit.edu	37	18	22804629	22804629	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr18:22804629T>C	ENST00000361524.3	-	4	3401	c.3253A>G	c.(3253-3255)Atc>Gtc	p.I1085V	ZNF521_ENST00000538137.2_Missense_Mutation_p.I1085V|ZNF521_ENST00000584787.1_Missense_Mutation_p.I865V|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1085					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.I1085V(2)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGGCCATTGATATCAAGTTTC	0.532			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		2	Substitution - Missense(2)	p.I1085V(2)	prostate(2)	NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(3253-3255)Atc>Gtc		zinc finger protein 521							75.0	69.0	71.0					18																	22804629		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804629T>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3253A>G	18.37:g.22804629T>C	ENSP00000354794:p.Ile1085Val					ZNF521_ENST00000584787.1_Missense_Mutation_p.I865V|ZNF521_ENST00000538137.2_Missense_Mutation_p.I1085V	p.I1085V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	3401	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1085					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3253A>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	9.842	1.191306	0.21954	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.07688	3.17;3.2	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.04318	0.0119	N	0.04203	-0.255	0.34452	D	0.700829	B	0.16166	0.016	B	0.14023	0.01	T	0.36040	-0.9764	10	0.30854	T	0.27	-35.3969	10.5804	0.45252	0.0:0.0715:0.0:0.9285	.	1085	Q96K83	ZN521_HUMAN	V	1085;1119;1085	ENSP00000354794:I1085V;ENSP00000382352:I1085V	ENSP00000354794:I1085V	I	-	1	0	ZNF521	21058627	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.839000	0.62810	2.241000	0.73720	0.528000	0.53228	ATC		0.532	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		7	120	0	0	0	0.248553	0	7	120				
GSDMB	55876	broad.mit.edu	37	17	38062140	38062140	+	Silent	SNP	C	C	T	rs144949338		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr17:38062140C>T	ENST00000394179.1	-	8	1102	c.972G>A	c.(970-972)gcG>gcA	p.A324A	GSDMB_ENST00000418519.1_Silent_p.A329A|GSDMB_ENST00000360317.3_Silent_p.A329A|GSDMB_ENST00000309481.7_Silent_p.A316A|GSDMB_ENST00000520542.1_Silent_p.A320A|GSDMB_ENST00000394175.2_Silent_p.A307A			Q8TAX9	GSDMB_HUMAN	gasdermin B	324						cytoplasm (GO:0005737)		p.A307A(1)|p.A329A(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CTTTTGCACGCGCTTCTACCA	0.567																																						ENST00000394175.2																			2	Substitution - coding silent(2)	p.A307A(1)|p.A329A(1)	prostate(2)	breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						c.(919-921)gcG>gcA		gasdermin B		C	,,,	2,4404	4.2+/-10.8	0,2,2201	115.0	117.0	117.0		948,987,960,921	-8.6	0.0	17	dbSNP_134	117	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GSDMB	NM_001042471.1,NM_001165958.1,NM_001165959.1,NM_018530.2	,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,	316/404,329/417,320/408,307/395	38062140	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55876					cytoplasm		g.chr17:38062140C>T	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.972G>A	17.37:g.38062140C>T						GSDMB_ENST00000394179.1_Silent_p.A324A|GSDMB_ENST00000418519.1_Silent_p.A329A|GSDMB_ENST00000520542.1_Silent_p.A320A|GSDMB_ENST00000309481.7_Silent_p.A316A|GSDMB_ENST00000360317.3_Silent_p.A329A	p.A307A	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN			6	1144	-			324					B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Silent	SNP	ENST00000394179.1	37	c.921G>A		.	.	.	.	.	.	.	.	.	.	C	3.197	-0.164607	0.06502	4.54E-4	0.0	ENSG00000073605	ENST00000420491	.	.	.	4.3	-8.59	0.00893	.	.	.	.	.	T	0.30324	0.0761	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34900	-0.9810	4	.	.	.	.	12.0183	0.53329	0.0:0.1285:0.1054:0.7661	.	.	.	.	H	261	.	.	R	-	2	0	GSDMB	35315666	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.334000	0.00508	-2.418000	0.00566	-2.080000	0.00379	CGC		0.567	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		80	191	0	0	0	0.870114	0	80	191				
ERCC6	2074	broad.mit.edu	37	10	50666944	50666944	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr10:50666944G>A	ENST00000355832.5	-	21	4477	c.4399C>T	c.(4399-4401)Cga>Tga	p.R1467*	ERCC6_ENST00000542458.1_Nonsense_Mutation_p.R837*|ERCC6_ENST00000465653.1_5'Flank|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1467					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.R1467*(2)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AATAGTTCTCGGAAGACACAA	0.458								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			2	Substitution - Nonsense(2)	p.R1467*(2)	prostate(2)	breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4399-4401)Cga>Tga	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							118.0	117.0	118.0					10																	50666944		2203	4300	6503	SO:0001587	stop_gained	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50666944G>A	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.4399C>T	10.37:g.50666944G>A	ENSP00000348089:p.Arg1467*					ERCC6_ENST00000542458.1_Nonsense_Mutation_p.R837*|RP11-123B3.2_ENST00000423283.1_RNA	p.R1467*	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			21	4477	-			1467					D3DX94|Q5W0L9	Nonsense_Mutation	SNP	ENST00000355832.5	37	c.4399C>T	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	G	40	8.244733	0.98724	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	.	.	.	5.48	3.5	0.40072	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0879	15.3513	0.74389	0.0:0.0:0.6741:0.3259	.	.	.	.	X	1467;844;837	.	ENSP00000348089:R1467X	R	-	1	2	ERCC6	50336950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.481000	0.45215	1.433000	0.47394	0.563000	0.77884	CGA		0.458	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		6	287	0	0	0	0.217242	0	6	287				
DAGLA	747	broad.mit.edu	37	11	61505663	61505663	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:61505663G>A	ENST00000257215.5	+	16	1756	c.1640G>A	c.(1639-1641)cGa>cAa	p.R547Q		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	547					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R547Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GTCCTGCAGCGAAGCACCAAG	0.637																																						ENST00000257215.5																			1	Substitution - Missense(1)	p.R547Q(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(1639-1641)cGa>cAa		diacylglycerol lipase, alpha							51.0	49.0	50.0					11																	61505663		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61505663G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1640G>A	11.37:g.61505663G>A	ENSP00000257215:p.Arg547Gln						p.R547Q	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	16	1756	+			547					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.1640G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394013	0.62066	.	.	ENSG00000134780	ENST00000257215	T	0.25579	1.79	4.24	4.24	0.50183	.	0.058263	0.64402	D	0.000003	T	0.22126	0.0533	L	0.54323	1.7	0.52099	D	0.999944	P	0.43352	0.804	B	0.28011	0.085	T	0.16778	-1.0391	10	0.45353	T	0.12	-8.6492	17.0034	0.86386	0.0:0.0:1.0:0.0	.	547	Q9Y4D2	DGLA_HUMAN	Q	547	ENSP00000257215:R547Q	ENSP00000257215:R547Q	R	+	2	0	DAGLA	61262239	1.000000	0.71417	0.992000	0.48379	0.899000	0.52679	6.706000	0.74649	2.089000	0.63090	0.313000	0.20887	CGA		0.637	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		4	45	0	0	0	0.150653	0	4	45				
PTPN21	11099	broad.mit.edu	37	14	88983485	88983485	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr14:88983485C>T	ENST00000556564.1	-	3	585	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	PTPN21_ENST00000554628.1_5'UTR|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000328736.3_Missense_Mutation_p.V101M	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	101	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.V101M(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TAAAACACCACTCCAAAATAG	0.413																																						ENST00000556564.1																			2	Substitution - Missense(2)	p.V101M(2)	prostate(2)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(301-303)Gtg>Atg		protein tyrosine phosphatase, non-receptor type 21							123.0	111.0	115.0					14																	88983485		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88983485C>T	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.301G>A	14.37:g.88983485C>T	ENSP00000452414:p.Val101Met					PTPN21_ENST00000328736.3_Missense_Mutation_p.V101M|PTPN21_ENST00000554628.1_5'UTR	p.V101M	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			3	585	-			101			FERM.			Missense_Mutation	SNP	ENST00000556564.1	37	c.301G>A	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754227	0.69648	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	D;D;D	0.84070	-1.8;-1.8;-1.8	5.77	5.77	0.91146	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.64402	D	0.000002	D	0.93446	0.7909	M	0.91972	3.26	0.53005	D	0.999966	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.94062	0.7327	10	0.72032	D	0.01	.	19.9983	0.97395	0.0:1.0:0.0:0.0	.	101;101	G3V3S6;Q16825	.;PTN21_HUMAN	M	101	ENSP00000330276:V101M;ENSP00000452414:V101M;ENSP00000451401:V101M	ENSP00000330276:V101M	V	-	1	0	PTPN21	88053238	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	7.818000	0.86416	2.724000	0.93272	0.561000	0.74099	GTG		0.413	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			45	117	0	0	0	0.859065	0	45	117				
ARRDC3	57561	broad.mit.edu	37	5	90670036	90670036	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:90670036C>T	ENST00000265138.3	-	6	1194	c.928G>A	c.(928-930)Ggt>Agt	p.G310S	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	310					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)	p.G310S(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GGAATGGTACCGATGACAAGT	0.378																																						ENST00000265138.3																			1	Substitution - Missense(1)	p.G310S(1)	prostate(1)	breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18						c.(928-930)Ggt>Agt		arrestin domain containing 3							162.0	157.0	159.0					5																	90670036		2203	4300	6503	SO:0001583	missense	57561				signal transduction	cytoplasm	protein binding	g.chr5:90670036C>T	AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.928G>A	5.37:g.90670036C>T	ENSP00000265138:p.Gly310Ser						p.G310S	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)	6	1194	-		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)	310					A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	37	c.928G>A	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	C	36	5.750799	0.96890	.	.	ENSG00000113369	ENST00000265138	T	0.20463	2.07	6.02	6.02	0.97574	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62036	0.2395	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71407	-0.4602	10	0.87932	D	0	-44.9642	20.5373	0.99239	0.0:1.0:0.0:0.0	.	310	Q96B67	ARRD3_HUMAN	S	310	ENSP00000265138:G310S	ENSP00000265138:G310S	G	-	1	0	ARRDC3	90705792	1.000000	0.71417	0.975000	0.42487	0.995000	0.86356	7.818000	0.86416	2.857000	0.98124	0.650000	0.86243	GGT		0.378	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801		5	285	0	0	0	0.248553	0	5	285				
SETX	23064	broad.mit.edu	37	9	135205329	135205329	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr9:135205329C>A	ENST00000224140.5	-	10	1838	c.1656G>T	c.(1654-1656)caG>caT	p.Q552H	SETX_ENST00000393220.1_Missense_Mutation_p.Q552H|SETX_ENST00000372169.2_Missense_Mutation_p.Q552H	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	552					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGCAAAGAGACTGCTGCCCAA	0.423																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1654-1656)caG>caT		senataxin							88.0	93.0	91.0					9																	135205329		2203	4299	6502	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135205329C>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.1656G>T	9.37:g.135205329C>A	ENSP00000224140:p.Gln552His					SETX_ENST00000393220.1_Missense_Mutation_p.Q552H|SETX_ENST00000224140.5_Missense_Mutation_p.Q552H	p.Q552H			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	1838	-		Myeloproliferative disorder(178;0.204)	552					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.1656G>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	7.314	0.615636	0.14129	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	T;T;T	0.80909	-1.43;-1.43;-1.43	5.92	-11.8	0.00035	.	0.283408	0.34906	N	0.003600	T	0.52964	0.1767	N	0.19112	0.55	0.19945	N	0.999946	B;B;B	0.12630	0.005;0.006;0.005	B;B;B	0.14578	0.006;0.011;0.01	T	0.33979	-0.9847	10	0.22706	T	0.39	.	7.1099	0.25384	0.1507:0.5166:0.1526:0.1801	.	552;552;552	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	H	552	ENSP00000224140:Q552H;ENSP00000361242:Q552H;ENSP00000376913:Q552H	ENSP00000224140:Q552H	Q	-	3	2	SETX	134195150	0.002000	0.14202	0.000000	0.03702	0.901000	0.52897	-1.831000	0.01698	-2.537000	0.00488	-1.107000	0.02091	CAG		0.423	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		4	203	1	0	0.150653	0.150653	0.164904	4	203				
KCNK6	9424	broad.mit.edu	37	19	38810914	38810914	+	Splice_Site	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:38810914T>C	ENST00000263372.3	+	1	429		c.e1+2		KCNK6_ENST00000588137.1_Splice_Site	NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6						negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CCACCGTGGGTACGTAAGCGC	0.647																																						ENST00000263372.3																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17						c.e1+2		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						22.0	24.0	23.0					19																	38810914		2199	4294	6493	SO:0001630	splice_region_variant	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38810914T>C	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.322+2T>C	19.37:g.38810914T>C						KCNK6_ENST00000588137.1_Splice_Site		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		1	429	+	all_cancers(60;5.83e-07)							Q9HB47	Splice_Site	SNP	ENST00000263372.3	37		CCDS12513.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.171354	0.78452	.	.	ENSG00000099337	ENST00000263372	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9676	0.53044	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNK6	43502754	1.000000	0.71417	0.986000	0.45419	0.882000	0.50991	7.285000	0.78660	1.938000	0.56188	0.454000	0.30748	.		0.647	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823	Intron	3	50	0	0	0	0.115264	0	3	50				
RAB3GAP2	25782	broad.mit.edu	37	1	220364491	220364491	+	Missense_Mutation	SNP	G	G	A	rs151225064	byFrequency	TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:220364491G>A	ENST00000358951.2	-	14	1522	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	469					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.A469V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCTTCTTGGCGCATAGATCAC	0.493																																						ENST00000358951.2																			1	Substitution - Missense(1)	p.A469V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1405-1407)gCg>gTg		RAB3 GTPase activating protein subunit 2 (non-catalytic)		G	VAL/ALA	0,4406		0,0,2203	137.0	134.0	135.0		1406	5.7	0.9	1	dbSNP_134	135	2,8598	2.2+/-6.3	0,2,4298	no	missense	RAB3GAP2	NM_012414.3	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	469/1394	220364491	2,13004	2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220364491G>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1406C>T	1.37:g.220364491G>A	ENSP00000351832:p.Ala469Val						p.A469V	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	14	1522	-			469					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.1406C>T	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	G	35	5.508939	0.96386	0.0	2.33E-4	ENSG00000118873	ENST00000358951	D	0.90444	-2.67	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.94925	0.8359	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94568	0.7768	10	0.56958	D	0.05	.	19.7176	0.96129	0.0:0.0:1.0:0.0	.	469	Q9H2M9	RBGPR_HUMAN	V	469	ENSP00000351832:A469V	ENSP00000351832:A469V	A	-	2	0	RAB3GAP2	218431114	1.000000	0.71417	0.907000	0.35723	0.936000	0.57629	9.090000	0.94144	2.670000	0.90874	0.563000	0.77884	GCG		0.493	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		5	234	0	0	0	0.217242	0	5	234				
RYR2	6262	broad.mit.edu	37	1	237754089	237754089	+	Silent	SNP	T	T	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:237754089T>A	ENST00000366574.2	+	31	4274	c.3957T>A	c.(3955-3957)gcT>gcA	p.A1319A	RYR2_ENST00000360064.6_Silent_p.A1317A|RYR2_ENST00000542537.1_Silent_p.A1303A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1319	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)			AGACGGTGGCTGGAGGGCTCC	0.512																																						ENST00000366574.2																			0				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						c.(3955-3957)gcT>gcA		ryanodine receptor 2 (cardiac)							124.0	120.0	122.0					1																	237754089		1921	4134	6055	SO:0001819	synonymous_variant	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.chr1:237754089T>A	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.3957T>A	1.37:g.237754089T>A						RYR2_ENST00000542537.1_Silent_p.A1303A|RYR2_ENST00000360064.6_Silent_p.A1317A	p.A1319A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		31	4274	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1319			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.3957T>A	CCDS55691.1																																																																																				0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	221	0	0	0	0.184627	0	4	221				
VWA3B	200403	broad.mit.edu	37	2	98853086	98853086	+	Missense_Mutation	SNP	G	G	A	rs374199782		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:98853086G>A	ENST00000477737.1	+	19	2770	c.2566G>A	c.(2566-2568)Gcc>Acc	p.A856T		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	856								p.A856T(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGGCTTGGTCGCCAAGAAACT	0.478																																						ENST00000477737.1																			1	Substitution - Missense(1)	p.A856T(1)	prostate(1)	NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2566-2568)Gcc>Acc		von Willebrand factor A domain containing 3B		G	THR/ALA	1,4015		0,1,2007	98.0	103.0	101.0		2566	4.9	1.0	2		101	0,8348		0,0,4174	no	missense	VWA3B	NM_144992.4	58	0,1,6181	AA,AG,GG		0.0,0.0249,0.0081	probably-damaging	856/1295	98853086	1,12363	2008	4174	6182	SO:0001583	missense	200403							g.chr2:98853086G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2566G>A	2.37:g.98853086G>A	ENSP00000417955:p.Ala856Thr						p.A856T	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			19	2770	+			856					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2566G>A	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.886181|4.886181	0.91814|0.91814	2.49E-4|2.49E-4	0.0|0.0	ENSG00000168658|ENSG00000168658	ENST00000477737|ENST00000473149	T|.	0.08458|.	3.09|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.000000|.	0.64402|.	D|.	0.000009|.	T|T	0.72187|0.72187	0.3429|0.3429	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.998;1.0;0.999;0.998|.	T|T	0.71262|0.71262	-0.4645|-0.4645	10|5	0.87932|.	D|.	0|.	.|.	17.2494|17.2494	0.87038|0.87038	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	248;856;856;856|.	Q502W6-5;Q502W6;Q502W6-8;Q502W6-6|.	.;VWA3B_HUMAN;.;.|.	T|H	856|266	ENSP00000417955:A856T|.	ENSP00000417955:A856T|.	A|R	+|+	1|2	0|0	VWA3B|VWA3B	98219518|98219518	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.981000|0.981000	0.71138|0.71138	6.254000|6.254000	0.72460|0.72460	2.429000|2.429000	0.82318|0.82318	0.591000|0.591000	0.81541|0.81541	GCC|CGC		0.478	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		4	108	0	0	0	0.150653	0	4	108				
EXTL3	2137	broad.mit.edu	37	8	28575417	28575417	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr8:28575417T>C	ENST00000220562.4	+	3	2743	c.1841T>C	c.(1840-1842)tTc>tCc	p.F614S	EXTL3_ENST00000523149.1_Missense_Mutation_p.F230S|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	614					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)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.F614S(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TTCCATCTTTTCCCCCACACT	0.577																																						ENST00000220562.4																			1	Substitution - Missense(1)	p.F614S(1)	prostate(1)	biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(1840-1842)tTc>tCc		exostosin-like glycosyltransferase 3							100.0	93.0	95.0					8																	28575417		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28575417T>C	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1841T>C	8.37:g.28575417T>C	ENSP00000220562:p.Phe614Ser					EXTL3_ENST00000523149.1_Missense_Mutation_p.F230S|EXTL3_ENST00000519886.1_Intron	p.F614S	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	2743	+		Ovarian(32;0.069)	614					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.1841T>C	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.742180	0.49151	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.95342	-3.26;-3.68	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.90686	0.7078	L	0.43152	1.355	0.80722	D	1	B	0.33413	0.411	B	0.22601	0.04	D	0.89002	0.3422	10	0.28530	T	0.3	-26.4569	16.5885	0.84745	0.0:0.0:0.0:1.0	.	614	O43909	EXTL3_HUMAN	S	230;614	ENSP00000428691:F230S;ENSP00000220562:F614S	ENSP00000220562:F614S	F	+	2	0	EXTL3	28631336	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	TTC		0.577	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		18	192	0	0	0	0.608945	0	18	192				
MPEG1	219972	broad.mit.edu	37	11	58979394	58979394	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:58979394G>T	ENST00000361050.3	-	1	1030	c.945C>A	c.(943-945)aaC>aaA	p.N315K	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	315	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)		p.N315K(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GCATGTTGGGGTTGATGAAGA	0.552																																						ENST00000361050.3																			1	Substitution - Missense(1)	p.N315K(1)	prostate(1)	NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(943-945)aaC>aaA		macrophage expressed 1							38.0	37.0	37.0					11																	58979394		1898	4101	5999	SO:0001583	missense	219972					integral to membrane		g.chr11:58979394G>T	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.945C>A	11.37:g.58979394G>T	ENSP00000354335:p.Asn315Lys						p.N315K	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	1030	-		all_epithelial(135;0.125)	315			MACPF.		Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.945C>A	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	G	1.315	-0.600960	0.03744	.	.	ENSG00000197629	ENST00000361050	D	0.82433	-1.61	5.53	1.41	0.22369	Membrane attack complex component/perforin (MACPF) domain (3);	0.256805	0.39759	N	0.001270	T	0.65026	0.2652	L	0.37630	1.12	0.20403	N	0.999908	B	0.09022	0.002	B	0.14578	0.011	T	0.46317	-0.9200	10	0.02654	T	1	-7.9164	2.7289	0.05221	0.1724:0.1972:0.5082:0.1223	.	315	Q2M385	MPEG1_HUMAN	K	315	ENSP00000354335:N315K	ENSP00000354335:N315K	N	-	3	2	MPEG1	58735970	0.990000	0.36364	0.625000	0.29200	0.864000	0.49448	0.414000	0.21164	0.270000	0.21984	0.655000	0.94253	AAC		0.552	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		17	74	1	0	1.45105e-14	0.539581	1.78084e-14	17	74				
FBN1	2200	broad.mit.edu	37	15	48788323	48788323	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr15:48788323T>C	ENST00000316623.5	-	20	2848	c.2393A>G	c.(2392-2394)tAc>tGc	p.Y798C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	798	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.Y798C(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATCAGGTTTGTAGATAAATCC	0.353																																						ENST00000316623.5																			1	Substitution - Missense(1)	p.Y798C(1)	prostate(1)	NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(2392-2394)tAc>tGc		fibrillin 1							127.0	132.0	130.0					15																	48788323		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48788323T>C	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2393A>G	15.37:g.48788323T>C	ENSP00000325527:p.Tyr798Cys						p.Y798C	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	20	2848	-		all_lung(180;0.00279)	798			EGF-like 12; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.2393A>G	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878769	0.72294	.	.	ENSG00000166147	ENST00000316623	D	0.91996	-2.95	6.06	6.06	0.98353	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.055891	0.85682	D	0.000000	D	0.94951	0.8367	M	0.76574	2.34	0.80722	D	1	D	0.63046	0.992	P	0.60345	0.873	D	0.94383	0.7606	10	0.41790	T	0.15	.	15.4485	0.75253	0.0:0.0:0.0:1.0	.	798	P35555	FBN1_HUMAN	C	798	ENSP00000325527:Y798C	ENSP00000325527:Y798C	Y	-	2	0	FBN1	46575615	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.266000	0.51569	2.323000	0.78572	0.528000	0.53228	TAC		0.353	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			41	110	0	0	0	0.819951	0	41	110				
CTC-260E6.6	0	broad.mit.edu	37	19	20369868	20369868	+	RNA	SNP	G	G	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:20369868G>C	ENST00000593655.1	-	0	199																											TGTTGAAGGAGTTGGTGTTGC	0.408																																						ENST00000593655.1																			0																																																			0							g.chr19:20369868G>C																													19.37:g.20369868G>C														0	199	-									RNA	SNP	ENST00000593655.1	37																																																																																						0.408	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			6	93	0	0	0	0.278610	0	6	93				
NACA	4666	broad.mit.edu	37	12	57112065	57112065	+	Silent	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr12:57112065T>C	ENST00000454682.1	-	3	3530	c.3249A>G	c.(3247-3249)ccA>ccG	p.P1083P	NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1083	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGTCGCAGCTGGGGGAGTGG	0.672			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3247-3249)ccA>ccG		nascent polypeptide-associated complex alpha subunit							38.0	45.0	42.0					12																	57112065		1327	3019	4346	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57112065T>C	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3249A>G	12.37:g.57112065T>C						NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron	p.P1083P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3530	-			0						Silent	SNP	ENST00000454682.1	37	c.3249A>G																																																																																					0.672	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		34	73	0	0	0	0.812448	0	34	73				
IGKV1-17	28937	broad.mit.edu	37	2	89417050	89417050	+	RNA	SNP	C	C	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:89417050C>A	ENST00000490686.1	-	0	160									immunoglobulin kappa variable 1-17																		ACTTGCCCGGCAAGTGATGGT	0.498																																						ENST00000490686.1																			0																				58.0	77.0	72.0					2																	89417050		1467	3972	5439			0							g.chr2:89417050C>A	X72808		2p11.2	2012-02-08			ENSG00000240382	ENSG00000240382		"""Immunoglobulins / IGK locus"""	5733	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV117, A30			OTTHUMG00000151650		2.37:g.89417050C>A														0	160	-									RNA	SNP	ENST00000490686.1	37																																																																																						0.498	IGKV1-17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323399.1	NG_000834		66	255	1	0	1.7488e-33	0.870114	2.21332e-33	66	255				
MUC17	140453	broad.mit.edu	37	7	100680060	100680060	+	Missense_Mutation	SNP	C	C	T	rs145956810	byFrequency	TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr7:100680060C>T	ENST00000306151.4	+	3	5427	c.5363C>T	c.(5362-5364)tCg>tTg	p.S1788L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1788	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)	p.S1788L(1)		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)					GAAGCCACTTCGTCTCCTACA	0.537																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.S1788L(1)	prostate(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5362-5364)tCg>tTg		mucin 17, cell surface associated		C	LEU/SER	0,4406		0,0,2203	265.0	273.0	270.0		5363	-0.0	0.0	7	dbSNP_134	270	8,8592	6.4+/-24.3	0,8,4292	no	missense	MUC17	NM_001040105.1	145	0,8,6495	TT,TC,CC		0.093,0.0,0.0615	benign	1788/4494	100680060	8,12998	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680060C>T	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.5363C>T	7.37:g.100680060C>T	ENSP00000302716:p.Ser1788Leu						p.S1788L	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5427	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1788			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5363C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	2.530	-0.308832	0.05458	0.0	9.3E-4	ENSG00000169876	ENST00000306151	T	0.02606	4.23	0.932	-0.0243	0.13939	.	.	.	.	.	T	0.01730	0.0055	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.47289	-0.9129	9	0.34782	T	0.22	.	3.4997	0.07668	0.0:0.7094:0.0:0.2906	.	1788	Q685J3	MUC17_HUMAN	L	1788	ENSP00000302716:S1788L	ENSP00000302716:S1788L	S	+	2	0	MUC17	100466780	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.332000	0.19751	0.015000	0.14971	-1.404000	0.01136	TCG		0.537	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	506	0	0	0	0.387290	0	8	506				
SMG6	23293	broad.mit.edu	37	17	2076132	2076132	+	Silent	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr17:2076132C>T	ENST00000263073.6	-	13	3227	c.3177G>A	c.(3175-3177)tcG>tcA	p.S1059S	SMG6_ENST00000544865.1_Silent_p.S1028S|SMG6_ENST00000536871.2_Silent_p.S151S|SMG6_ENST00000354901.4_Silent_p.S151S	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1059					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.S1059S(2)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAGCCAGCGTCGACCATACAT	0.453																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			2	Substitution - coding silent(2)	p.S1059S(2)	prostate(2)	NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3082-3084)tcG>tcA		SMG6 nonsense mediated mRNA decay factor							93.0	77.0	83.0					17																	2076132		2203	4300	6503	SO:0001819	synonymous_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2076132C>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3177G>A	17.37:g.2076132C>T						SMG6_ENST00000354901.4_Silent_p.S151S|SMG6_ENST00000536871.2_Silent_p.S151S|SMG6_ENST00000263073.5_Silent_p.S1059S	p.S1028S			Q86US8	EST1A_HUMAN			13	3594	-			1059					B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	c.3084G>A	CCDS11016.1																																																																																				0.453	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			13	61	0	0	0	0.411799	0	13	61				
PCDHA3	56145	broad.mit.edu	37	5	140183011	140183011	+	Silent	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:140183011C>T	ENST00000522353.2	+	1	2229	c.2229C>T	c.(2227-2229)agC>agT	p.S743S	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.S743S|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	743	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S743S(4)|p.S743R(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCTCCAGCGCGGTGGGGA	0.637																																						ENST00000522353.2																			6	Substitution - coding silent(4)|Substitution - Missense(2)	p.S743S(4)|p.S743R(2)	prostate(2)|lung(2)|endometrium(2)	NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(2227-2229)agC>agT									78.0	85.0	83.0					5																	140183011		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140183011C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2229C>T	5.37:g.140183011C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.S743S|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.S743S	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2229	+								O75286	Silent	SNP	ENST00000522353.2	37	c.2229C>T	CCDS54915.1																																																																																				0.637	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		5	288	0	0	0	0.217242	0	5	288				
PGM2L1	283209	broad.mit.edu	37	11	74053512	74053512	+	Silent	SNP	C	C	T	rs151007979		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:74053512C>T	ENST00000298198.4	-	12	1937	c.1626G>A	c.(1624-1626)aaG>aaA	p.K542K		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	542					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)	p.K542K(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TTACTGATTTCTTATTAGGCT	0.353																																						ENST00000298198.4																			1	Substitution - coding silent(1)	p.K542K(1)	prostate(1)	NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1624-1626)aaG>aaA		phosphoglucomutase 2-like 1							49.0	51.0	50.0					11																	74053512		2200	4291	6491	SO:0001819	synonymous_variant	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74053512C>T	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1626G>A	11.37:g.74053512C>T							p.K542K	NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN			12	1937	-	Breast(11;3.32e-06)		542					Q96MQ7|Q9UIK3	Silent	SNP	ENST00000298198.4	37	c.1626G>A	CCDS8231.1																																																																																				0.353	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		13	163	0	0	0	0.435327	0	13	163				
ZNF423	23090	broad.mit.edu	37	16	49672120	49672120	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr16:49672120G>T	ENST00000561648.1	-	4	996	c.943C>A	c.(943-945)Cac>Aac	p.H315N	ZNF423_ENST00000562871.1_Missense_Mutation_p.H255N|ZNF423_ENST00000563137.2_Missense_Mutation_p.H255N|ZNF423_ENST00000535559.1_Missense_Mutation_p.H198N|ZNF423_ENST00000562520.1_Missense_Mutation_p.H255N|ZNF423_ENST00000262383.2_Missense_Mutation_p.H315N|ZNF423_ENST00000567169.1_Missense_Mutation_p.H198N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	315					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H315N(3)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGGCTTGGTGGATATGGGCG	0.622																																						ENST00000561648.1																			3	Substitution - Missense(3)	p.H315N(3)	prostate(3)	breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(943-945)Cac>Aac		zinc finger protein 423							123.0	87.0	99.0					16																	49672120		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672120G>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.943C>A	16.37:g.49672120G>T	ENSP00000455426:p.His315Asn					ZNF423_ENST00000562520.1_Missense_Mutation_p.H255N|ZNF423_ENST00000262383.2_Missense_Mutation_p.H315N|ZNF423_ENST00000567169.1_Missense_Mutation_p.H198N|ZNF423_ENST00000535559.1_Missense_Mutation_p.H198N|ZNF423_ENST00000562871.1_Missense_Mutation_p.H255N|ZNF423_ENST00000563137.2_Missense_Mutation_p.H255N	p.H315N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	996	-		all_cancers(37;0.0155)	315					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.943C>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312100	0.23821	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.27557	1.66;1.66	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.102460	0.64402	D	0.000004	T	0.15522	0.0374	N	0.04746	-0.17	0.33667	D	0.610497	B	0.17268	0.021	B	0.15052	0.012	T	0.16335	-1.0406	9	.	.	.	.	13.9801	0.64299	0.0:0.1515:0.8485:0.0	.	315	Q2M1K9	ZN423_HUMAN	N	315;198	ENSP00000262383:H315N;ENSP00000442321:H198N	.	H	-	1	0	ZNF423	48229621	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.877000	0.63086	2.331000	0.79229	0.561000	0.74099	CAC		0.622	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		4	112	1	0	0.184627	0.184627	0.199397	4	112				
DNM1P46	196968	broad.mit.edu	37	15	100332853	100332853	+	RNA	SNP	T	T	G			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr15:100332853T>G	ENST00000341853.1	-	0	1338				RN7SL484P_ENST00000462651.2_RNA|AC090825.1_ENST00000408584.1_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)	p.T127T(1)									TCCCGGCCACTGCCCTGAAGC	0.607																																						ENST00000341853.1																			1	Substitution - coding silent(1)	p.T127T(1)	prostate(1)																	77.0	81.0	80.0					15																	100332853		876	1991	2867			0							g.chr15:100332853T>G	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100332853T>G								NR_003260.1						0	1338	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.607	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		6	100	0	0	0	0.217242	0	6	100				
CMA1	1215	broad.mit.edu	37	14	24976626	24976626	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr14:24976626T>C	ENST00000250378.3	-	2	174	c.145A>G	c.(145-147)Aaa>Gaa	p.K49E	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	49	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.K49E(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CCACAAAATTTTGAGGGACCG	0.502																																						ENST00000250378.3																			1	Substitution - Missense(1)	p.K49E(1)	prostate(1)	kidney(1)|lung(8)|pancreas(1)|prostate(1)	11						c.(145-147)Aaa>Gaa		chymase 1, mast cell							150.0	145.0	146.0					14																	24976626		2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24976626T>C		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.145A>G	14.37:g.24976626T>C	ENSP00000250378:p.Lys49Glu					RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Intron	p.K49E	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	2	174	-			49			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.145A>G	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	T	2.445	-0.327743	0.05314	.	.	ENSG00000092009	ENST00000250378	T	0.58940	0.3	5.01	-10.0	0.00425	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	14.714400	0.00166	N	0.000000	T	0.26521	0.0648	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.16722	0.016	T	0.27191	-1.0081	10	0.07325	T	0.83	.	3.3567	0.07172	0.3879:0.0929:0.0719:0.4473	.	49	P23946	CMA1_HUMAN	E	49	ENSP00000250378:K49E	ENSP00000250378:K49E	K	-	1	0	CMA1	24046466	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.554000	0.00061	-3.878000	0.00096	-1.117000	0.02048	AAA		0.502	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			94	274	0	0	0	0.870114	0	94	274				
GRIK5	2901	broad.mit.edu	37	19	42569514	42569514	+	Silent	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:42569514C>T	ENST00000262895.3	-	2	104	c.105G>A	c.(103-105)gtG>gtA	p.V35V	GRIK5_ENST00000593562.1_Silent_p.V35V|GRIK5_ENST00000301218.4_Silent_p.V35V	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	35					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.V35V(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				CGCGGCCACACACTGTCTGAT	0.607																																						ENST00000262895.3																			2	Substitution - coding silent(2)	p.V35V(2)	prostate(2)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(103-105)gtG>gtA		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)						53.0	50.0	51.0					19																	42569514		2203	4300	6503	SO:0001819	synonymous_variant	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42569514C>T		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.105G>A	19.37:g.42569514C>T						GRIK5_ENST00000301218.4_Silent_p.V35V|GRIK5_ENST00000593562.1_Silent_p.V35V	p.V35V	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN			2	104	-		Prostate(69;0.059)	35					Q8WWG8	Silent	SNP	ENST00000262895.3	37	c.105G>A	CCDS12595.1																																																																																				0.607	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			4	84	0	0	0	0.184627	0	4	84				
KLHL3	26249	broad.mit.edu	37	5	136963996	136963996	+	Silent	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:136963996C>T	ENST00000309755.4	-	13	2024	c.1581G>A	c.(1579-1581)cgG>cgA	p.R527R	KLHL3_ENST00000508657.1_Silent_p.R495R|KLHL3_ENST00000506491.1_Silent_p.R445R|KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000506873.1_5'UTR	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	527					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CTGCGTTGCGCCGGCACATGT	0.537																																						ENST00000508657.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1483-1485)cgG>cgA		kelch-like family member 3							223.0	192.0	203.0					5																	136963996		2203	4300	6503	SO:0001819	synonymous_variant	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:136963996C>T	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.1581G>A	5.37:g.136963996C>T						KLHL3_ENST00000309755.4_Silent_p.R527R|KLHL3_ENST00000506491.1_Silent_p.R445R|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000541417.1_3'UTR	p.R495R	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	13	2199	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	527					B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Silent	SNP	ENST00000309755.4	37	c.1485G>A	CCDS4192.1																																																																																				0.537	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			23	219	0	0	0	0.639603	0	23	219				
ABCA12	26154	broad.mit.edu	37	2	215890407	215890407	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:215890407A>G	ENST00000272895.7	-	11	1496	c.1277T>C	c.(1276-1278)cTa>cCa	p.L426P	AC072062.3_ENST00000602182.1_RNA|AC072062.3_ENST00000419251.1_RNA|AC072062.3_ENST00000595058.1_RNA|AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.L108P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	426					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTTGATTTTAGGACTTCAGG	0.289																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(1276-1278)cTa>cCa		ATP-binding cassette, sub-family A (ABC1), member 12							63.0	65.0	64.0					2																	215890407		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215890407A>G	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1277T>C	2.37:g.215890407A>G	ENSP00000272895:p.Leu426Pro					ABCA12_ENST00000389661.4_Missense_Mutation_p.L108P|AC072062.3_ENST00000437897.3_RNA	p.L426P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	11	1496	-		Renal(323;0.127)	426					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.1277T>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.664949	0.67700	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.57273	0.41;0.41	5.83	5.83	0.93111	.	0.293466	0.24843	N	0.035150	T	0.51398	0.1672	N	0.24115	0.695	0.80722	D	1	P;P	0.48640	0.859;0.913	P;P	0.53006	0.522;0.715	T	0.56189	-0.8020	10	0.87932	D	0	.	12.5797	0.56383	1.0:0.0:0.0:0.0	.	426;108	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	P	426;108	ENSP00000272895:L426P;ENSP00000374312:L108P	ENSP00000272895:L426P	L	-	2	0	ABCA12	215598652	0.984000	0.35163	0.469000	0.27204	0.982000	0.71751	4.487000	0.60293	2.216000	0.71823	0.459000	0.35465	CTA		0.289	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		3	183	0	0	0	0.115264	0	3	183				
PRG3	10394	broad.mit.edu	37	11	57147239	57147239	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:57147239C>T	ENST00000287143.2	-	3	212	c.103G>A	c.(103-105)Gac>Aac	p.D35N		NM_006093.3	NP_006084.2	Q8TBJ4	LPPR1_HUMAN	proteoglycan 3	0					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.D35N(1)		large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						TGGCCTAGGTCTGCCTGTGTC	0.557																																					Melanoma(154;1456 2519 19358 45229)	ENST00000287143.2																			1	Substitution - Missense(1)	p.D35N(1)	prostate(1)	large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(103-105)Gac>Aac		proteoglycan 3							79.0	74.0	76.0					11																	57147239		2201	4296	6497	SO:0001583	missense	10394				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding	g.chr11:57147239C>T	AF132209	CCDS7954.1	11q12.1	2008-02-05			ENSG00000156575	ENSG00000156575			9363	protein-coding gene	gene with protein product		606814				10318872, 11170744	Standard	NM_006093		Approved	MBPH	uc001njv.2	Q9Y2Y8	OTTHUMG00000167026	ENST00000287143.2:c.103G>A	11.37:g.57147239C>T	ENSP00000287143:p.Asp35Asn						p.D35N	NM_006093.3	NP_006084.2	Q9Y2Y8	PRG3_HUMAN			3	212	-			35					Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000287143.2	37	c.103G>A	CCDS7954.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539624	0.27563	.	.	ENSG00000156575	ENST00000287143	T	0.05717	3.4	4.81	-0.565	0.11771	.	1.065830	0.07228	N	0.862027	T	0.07007	0.0178	L	0.43152	1.355	0.09310	N	1	P	0.46706	0.883	B	0.44224	0.444	T	0.31280	-0.9949	10	0.49607	T	0.09	-19.5831	3.4064	0.07343	0.3028:0.4375:0.0:0.2597	.	35	Q9Y2Y8	PRG3_HUMAN	N	35	ENSP00000287143:D35N	ENSP00000287143:D35N	D	-	1	0	PRG3	56903815	0.012000	0.17670	0.000000	0.03702	0.014000	0.08584	0.343000	0.19944	-0.166000	0.10890	-0.261000	0.10672	GAC		0.557	PRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392467.1	NM_006093		45	115	0	0	0	0.870114	0	45	115				
CCDC74A	90557	broad.mit.edu	37	2	132290465	132290465	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:132290465G>T	ENST00000295171.6	+	6	1043	c.905G>T	c.(904-906)gGg>gTg	p.G302V	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.G236V	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	302			G -> R (in dbSNP:rs13660).					p.G302V(1)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTCCTGGAAGGGAGCCAGAGG	0.692																																						ENST00000295171.6																			1	Substitution - Missense(1)	p.G302V(1)	prostate(1)	endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(904-906)gGg>gTg		coiled-coil domain containing 74A							45.0	52.0	50.0					2																	132290465		2203	4300	6503	SO:0001583	missense	90557							g.chr2:132290465G>T		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.905G>T	2.37:g.132290465G>T	ENSP00000295171:p.Gly302Val					CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.G236V	p.G302V	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN			6	1043	+			302		G -> R (in dbSNP:rs13660).			Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.905G>T	CCDS2167.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.52|13.52	2.262932|2.262932	0.39995|0.39995	.|.	.|.	ENSG00000163040|ENSG00000163040	ENST00000295171;ENST00000409856|ENST00000434330	T;T|.	0.35236|.	1.32;1.32|.	2.66|2.66	1.27|1.27	0.21489|0.21489	.|.	0.449735|0.449735	0.16074|0.16074	U|U	0.230852|0.230852	T|.	0.42337|.	0.1198|.	M|M	0.63428|0.63428	1.95|1.95	0.25986|0.25986	N|N	0.982319|0.982319	P;P|.	0.46512|.	0.879;0.49|.	P;B|.	0.45538|.	0.484;0.267|.	T|.	0.38950|.	-0.9637|.	10|.	0.72032|0.87932	D|D	0.01|0	.|.	3.4143|3.4143	0.07369|0.07369	0.3419:0.0:0.6581:0.0|0.3419:0.0:0.6581:0.0	.|.	236;302|.	Q96AQ1-2;Q96AQ1|.	.;CC74A_HUMAN|.	V|X	302;236|191	ENSP00000295171:G302V;ENSP00000387009:G236V|.	ENSP00000295171:G302V|ENSP00000406839:G191X	G|G	+|+	2|1	0|0	CCDC74A|CCDC74A	132006935|132006935	0.338000|0.338000	0.24775|0.24775	0.925000|0.925000	0.36789|0.36789	0.173000|0.173000	0.22820|0.22820	0.697000|0.697000	0.25556|0.25556	1.192000|1.192000	0.43071|0.43071	0.194000|0.194000	0.17425|0.17425	GGG|GGA		0.692	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		11	110	1	0	3.07112e-06	0.387290	3.71284e-06	11	110				
RSPH6A	81492	broad.mit.edu	37	19	46299171	46299171	+	Nonsense_Mutation	SNP	C	C	A	rs200690733		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:46299171C>A	ENST00000221538.3	-	6	2252	c.2110G>T	c.(2110-2112)Gag>Tag	p.E704*	RSPH6A_ENST00000600188.1_Nonsense_Mutation_p.E440*|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	704	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcgccctcctcctcctcctcT	0.592																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2110-2112)Gag>Tag		radial spoke head 6 homolog A (Chlamydomonas)							77.0	83.0	81.0					19																	46299171		2203	4300	6503	SO:0001587	stop_gained	81492					intracellular		g.chr19:46299171C>A	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2110G>T	19.37:g.46299171C>A	ENSP00000221538:p.Glu704*					RSPH6A_ENST00000600188.1_Nonsense_Mutation_p.E440*|RSPH6A_ENST00000597055.1_3'UTR	p.E704*	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2252	-			704			Glu-rich.		Q53FE2|Q6PEZ9	Nonsense_Mutation	SNP	ENST00000221538.3	37	c.2110G>T	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	c	28.5	4.923733	0.92319	.	.	ENSG00000104941	ENST00000221538	.	.	.	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.43913	D	0.996555	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9982	14.6161	0.68549	0.0:1.0:0.0:0.0	.	.	.	.	X	704	.	ENSP00000221538:E704X	E	-	1	0	RSPH6A	50991011	0.403000	0.25319	0.960000	0.40013	0.136000	0.21042	1.804000	0.38873	2.382000	0.81193	0.551000	0.68910	GAG		0.592	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			4	185	1	0	0.150653	0.150653	0.164904	4	185				
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G	rs370664533	byFrequency	TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr20:62839353A>G	ENST00000328439.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000536311.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			2	Substitution - coding silent(2)	p.E268E(2)	prostate(1)|kidney(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(802-804)gaA>gaG		myelin transcription factor 1							19.0	19.0	19.0					20																	62839353		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839353A>G	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.804A>G	20.37:g.62839353A>G						MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E268E	p.E268E			Q01538	MYT1_HUMAN			7	1168	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		268			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.804A>G	CCDS13558.1																																																																																				0.572	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		3	24	0	0	0	0.150653	0	3	24				
EXD3	54932	broad.mit.edu	37	9	140243660	140243660	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr9:140243660C>G	ENST00000340951.4	-	16	1927	c.1732G>C	c.(1732-1734)Gac>Cac	p.D578H	EXD3_ENST00000342129.4_Missense_Mutation_p.D258H	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0								p.D578H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CCAGCCAGGTCCTCCGACAGG	0.701																																						ENST00000340951.4																			1	Substitution - Missense(1)	p.D578H(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(1732-1734)Gac>Cac		exonuclease 3'-5' domain containing 3							12.0	17.0	15.0					9																	140243660		1968	4141	6109	SO:0001583	missense	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140243660C>G		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.1732G>C	9.37:g.140243660C>G	ENSP00000340474:p.Asp578His					EXD3_ENST00000342129.4_Missense_Mutation_p.D258H	p.D578H	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			16	1927	-			578					Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	c.1732G>C	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	c	14.25	2.479601	0.44044	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.67523	-0.27;0.47	3.35	-0.279	0.12890	Ribonuclease H-like (1);	0.341690	0.29080	U	0.013211	T	0.65015	0.2651	L	0.32530	0.975	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.72982	0.979;0.936	T	0.54906	-0.8223	10	0.59425	D	0.04	.	3.8704	0.09035	0.0:0.4153:0.1858:0.3989	.	258;578	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	H	258;578	ENSP00000343705:D258H;ENSP00000340474:D578H	ENSP00000340474:D578H	D	-	1	0	EXD3	139363481	0.024000	0.19004	0.017000	0.16124	0.102000	0.19082	0.248000	0.18198	-0.138000	0.11434	0.430000	0.28490	GAC		0.701	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		5	17	0	0	0	0.184627	0	5	17				
MCL1	4170	broad.mit.edu	37	1	150551355	150551355	+	Missense_Mutation	SNP	C	C	T	rs367658301		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:150551355C>T	ENST00000369026.2	-	1	711	c.652G>A	c.(652-654)Gat>Aat	p.D218N	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_Missense_Mutation_p.D218N	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	218					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.D218N(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGCACGCCATCCCCAACCCGT	0.622																																						ENST00000369026.2																			1	Substitution - Missense(1)	p.D218N(1)	prostate(1)	endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8						c.(652-654)Gat>Aat		myeloid cell leukemia sequence 1 (BCL2-related)		C	ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	60.0	66.0	64.0		193,652,652	4.6	0.9	1		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MCL1	NM_001197320.1,NM_021960.4,NM_182763.2	23,23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	65/198,218/351,218/272	150551355	1,13005	2203	4300	6503	SO:0001583	missense	4170				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	g.chr1:150551355C>T	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.652G>A	1.37:g.150551355C>T	ENSP00000358022:p.Asp218Asn					MCL1_ENST00000307940.3_Missense_Mutation_p.D218N	p.D218N	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		1	711	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		218					B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Missense_Mutation	SNP	ENST00000369026.2	37	c.652G>A	CCDS957.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161706	0.57368	0.0	1.16E-4	ENSG00000143384	ENST00000369026;ENST00000307940;ENST00000439749	T;T	0.08634	3.07;3.07	4.58	4.58	0.56647	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH3 motif, conserved site (1);Apoptosis regulator, Bcl-2, BH (2);	0.454797	0.24113	N	0.041433	T	0.04003	0.0112	L	0.38733	1.17	0.46564	D	0.999107	B;B	0.32573	0.376;0.195	B;B	0.29598	0.104;0.103	T	0.27157	-1.0082	10	0.87932	D	0	-10.4498	14.9264	0.70881	0.0:1.0:0.0:0.0	.	218;218	Q07820-2;Q07820	.;MCL1_HUMAN	N	218;218;147	ENSP00000358022:D218N;ENSP00000309973:D218N	ENSP00000309973:D218N	D	-	1	0	MCL1	148817979	1.000000	0.71417	0.943000	0.38184	0.500000	0.33767	4.803000	0.62546	2.367000	0.80283	0.561000	0.74099	GAT		0.622	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960		34	92	0	0	0	0.779181	0	34	92				
OR10H2	26538	broad.mit.edu	37	19	15839017	15839017	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:15839017T>C	ENST00000305899.3	+	1	184	c.164T>C	c.(163-165)cTc>cCc	p.L55P		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GAGCGCAGCCTCCACACGCCC	0.612																																						ENST00000305899.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(163-165)cTc>cCc		olfactory receptor, family 10, subfamily H, member 2							203.0	165.0	178.0					19																	15839017		2203	4300	6503	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839017T>C	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.164T>C	19.37:g.15839017T>C	ENSP00000306095:p.Leu55Pro						p.L55P	NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN			1	184	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		55					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.164T>C	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	16.13	3.035306	0.54896	.	.	ENSG00000171942	ENST00000305899	T	0.14893	2.47	2.88	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000955	T	0.56659	0.2000	H	0.99325	4.515	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.68232	-0.5463	10	0.87932	D	0	.	8.94	0.35725	0.0:0.0:0.0:1.0	.	55	O60403	O10H2_HUMAN	P	55	ENSP00000306095:L55P	ENSP00000306095:L55P	L	+	2	0	OR10H2	15700017	1.000000	0.71417	0.993000	0.49108	0.949000	0.60115	6.809000	0.75211	1.186000	0.42985	0.438000	0.28831	CTC		0.612	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			4	196	0	0	0	0.184627	0	4	196				
FBLIM1	54751	broad.mit.edu	37	1	16091554	16091554	+	Missense_Mutation	SNP	G	G	C	rs202246562		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:16091554G>C	ENST00000375766.3	+	3	716	c.76G>C	c.(76-78)Gtg>Ctg	p.V26L	FBLIM1_ENST00000400773.1_Missense_Mutation_p.V26L|FBLIM1_ENST00000375771.1_Missense_Mutation_p.V26L|FBLIM1_ENST00000441801.2_Missense_Mutation_p.V26L|FBLIM1_ENST00000332305.5_Missense_Mutation_p.V26L	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	26	Filamin-binding.|Intrinsically disordered.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)	p.V26L(1)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CGATGTGGCCGTGGCGGAGGA	0.672																																						ENST00000375766.3																			1	Substitution - Missense(1)	p.V26L(1)	prostate(1)	large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16						c.(76-78)Gtg>Ctg		filamin binding LIM protein 1							61.0	60.0	61.0					1																	16091554		2203	4299	6502	SO:0001583	missense	54751				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	g.chr1:16091554G>C		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.76G>C	1.37:g.16091554G>C	ENSP00000364921:p.Val26Leu					FBLIM1_ENST00000332305.5_Missense_Mutation_p.V26L|FBLIM1_ENST00000441801.2_Missense_Mutation_p.V26L|FBLIM1_ENST00000375771.1_Missense_Mutation_p.V26L|FBLIM1_ENST00000400773.1_Missense_Mutation_p.V26L	p.V26L	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)	3	716	+		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	26			Filamin-binding.		B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Missense_Mutation	SNP	ENST00000375766.3	37	c.76G>C	CCDS163.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315237	0.23908	.	.	ENSG00000162458	ENST00000496928;ENST00000508310;ENST00000510393;ENST00000375771;ENST00000502638;ENST00000375766;ENST00000400773;ENST00000483633;ENST00000502739;ENST00000431771;ENST00000441801;ENST00000332305	T;T;T;T;T;T;T;T;T	0.62788	0.67;0.31;0.31;-0.0;0.71;0.65;0.72;0.25;-0.0	4.84	3.9	0.45041	.	0.933364	0.09073	N	0.852519	T	0.68769	0.3037	M	0.73598	2.24	0.09310	N	1	P;D;P	0.60160	0.723;0.987;0.495	B;P;B	0.57620	0.195;0.824;0.19	T	0.58301	-0.7660	10	0.09338	T	0.73	.	6.035	0.19702	0.156:0.177:0.667:0.0	.	26;26;26	Q8WUP2-3;Q8WUP2-2;Q8WUP2	.;.;FBLI1_HUMAN	L	26	ENSP00000421885:V26L;ENSP00000364926:V26L;ENSP00000364921:V26L;ENSP00000383584:V26L;ENSP00000427052:V26L;ENSP00000424920:V26L;ENSP00000402401:V26L;ENSP00000416387:V26L;ENSP00000364920:V26L	ENSP00000364920:V26L	V	+	1	0	FBLIM1	15964141	0.003000	0.15002	0.381000	0.26106	0.097000	0.18754	0.967000	0.29344	2.391000	0.81399	0.655000	0.94253	GTG		0.672	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	NM_001024215		36	103	0	0	0	0.812448	0	36	103				
SELENBP1	8991	broad.mit.edu	37	1	151341656	151341656	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:151341656G>A	ENST00000368868.5	-	4	275	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	SELENBP1_ENST00000435071.1_5'UTR|SELENBP1_ENST00000426705.2_Missense_Mutation_p.R104W|SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000447402.3_Intron	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	62					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)	p.R62W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATGGGCAGCCGGTGGATGACC	0.602																																						ENST00000426705.2																			1	Substitution - Missense(1)	p.R62W(1)	prostate(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20						c.(310-312)Cgg>Tgg		selenium binding protein 1							79.0	71.0	74.0					1																	151341656		2203	4299	6502	SO:0001583	missense	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151341656G>A	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.184C>T	1.37:g.151341656G>A	ENSP00000357861:p.Arg62Trp					SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000447402.3_Intron|SELENBP1_ENST00000368868.5_Missense_Mutation_p.R62W|SELENBP1_ENST00000435071.1_5'UTR	p.R104W	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		4	454	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		62					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	c.310C>T	CCDS995.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767615	0.69878	.	.	ENSG00000143416	ENST00000368868;ENST00000458566;ENST00000426705;ENST00000427867	.	.	.	4.77	2.65	0.31530	.	0.000000	0.85682	D	0.000000	T	0.70491	0.3230	M	0.74389	2.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.74699	-0.3577	9	0.56958	D	0.05	0.0921	13.0218	0.58791	0.0:0.0:0.6895:0.3105	.	104;62	A6PVW9;Q13228	.;SBP1_HUMAN	W	62;46;104;44	.	ENSP00000357861:R62W	R	-	1	2	SELENBP1	149608280	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.747000	0.62141	1.165000	0.42670	0.462000	0.41574	CGG		0.602	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			4	115	0	0	0	0.150653	0	4	115				
FMN2	56776	broad.mit.edu	37	1	240370947	240370947	+	Silent	SNP	G	G	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:240370947G>A	ENST00000319653.9	+	5	3065	c.2835G>A	c.(2833-2835)ccG>ccA	p.P945P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	945	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCTCCTCCGCCCCCTCTAC	0.692																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2833-2835)ccG>ccA		formin 2							26.0	31.0	29.0					1																	240370947		2202	4299	6501	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370947G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2835G>A	1.37:g.240370947G>A							p.P945P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3065	+	Ovarian(103;0.127)	all_cancers(173;0.013)	945			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.2835G>A	CCDS31069.2																																																																																				0.692	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	72	0	0	0	0.150653	0	4	72				
RCOR1	23186	broad.mit.edu	37	14	103174893	103174893	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr14:103174893G>A	ENST00000570597.1	+	6	743	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	RCOR1_ENST00000262241.6_Missense_Mutation_p.R251Q			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	248	Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CGCCATGCCCGGAAACAAAAA	0.463																																						ENST00000262241.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(751-753)cGg>cAg		REST corepressor 1							122.0	132.0	129.0					14																	103174893		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103174893G>A	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.743G>A	14.37:g.103174893G>A	ENSP00000459789:p.Arg248Gln					RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q	p.R251Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN			6	978	+			248			Interaction with HDAC1.		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.752G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.433273	0.96150	.	.	ENSG00000089902	ENST00000262241	T	0.47869	0.83	5.88	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.39467	1.215	0.80722	D	1	P	0.44429	0.835	B	0.25405	0.06	T	0.35773	-0.9775	10	0.72032	D	0.01	-19.777	15.22	0.73303	0.0675:0.0:0.9325:0.0	.	248	Q9UKL0	RCOR1_HUMAN	Q	248	ENSP00000262241:R248Q	ENSP00000262241:R248Q	R	+	2	0	RCOR1	102244646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.441000	0.97557	1.487000	0.48415	0.655000	0.94253	CGG		0.463	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		5	337	0	0	0	0.184627	0	5	337				
TUBBP5	643224	broad.mit.edu	37	9	141070695	141070695	+	RNA	SNP	G	G	A	rs183702666	byFrequency	TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr9:141070695G>A	ENST00000503395.1	+	0	1470									tubulin, beta pseudogene 5									p.R105H(1)									GCCAAGGGACGCTACACCGAA	0.592													.|||	1260	0.251597	0.2526	0.2939	5008	,	,		9939	0.125		0.339	False		,,,				2504	0.2607					ENST00000503395.1																			1	Substitution - Missense(1)	p.R105H(1)	prostate(1)																																																0							g.chr9:141070695G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070695G>A														0	1470	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.592	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		4	13	0	0	0	0.184627	0	4	13				
NLRC3	197358	broad.mit.edu	37	16	3613171	3613171	+	RNA	SNP	G	G	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr16:3613171G>A	ENST00000301749.7	-	0	2172				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.S636S(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAGGGCCCCGCTCTCCATGG	0.697																																						ENST00000301749.7																			1	Substitution - coding silent(1)	p.S636S(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							9.0	13.0	12.0					16																	3613171		2083	4195	6278			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3613171G>A	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613171G>A						NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	2172	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37																																																																																						0.697	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		4	13	0	0	0	0.184627	0	4	13				
PCDHA13	56136	broad.mit.edu	37	5	140263465	140263465	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:140263465C>T	ENST00000289272.2	+	1	1612	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R538C|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R538C(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCGCGCGCGACTCTGG	0.682																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			1	Substitution - Missense(1)	p.R538C(1)	prostate(1)	NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1612-1614)Cgc>Tgc									73.0	79.0	77.0					5																	140263465		2203	4299	6502	SO:0001583	missense	0							g.chr5:140263465C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1612C>T	5.37:g.140263465C>T	ENSP00000289272:p.Arg538Cys					PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R538C|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron	p.R538C	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1612	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1612C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314691	0.23908	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.54866	0.55;0.55	4.54	3.67	0.42095	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.38639	0.1048	L	0.45422	1.42	0.34065	D	0.657761	B;B;B	0.30542	0.051;0.08;0.284	B;B;B	0.25506	0.017;0.061;0.059	T	0.52756	-0.8533	9	0.87932	D	0	.	3.1978	0.06639	0.2757:0.492:0.1433:0.089	.	538;538;538	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	C	538	ENSP00000386821:R538C;ENSP00000289272:R538C	ENSP00000289272:R538C	R	+	1	0	PCDHA13	140243649	0.000000	0.05858	1.000000	0.80357	0.510000	0.34073	-1.686000	0.01929	1.101000	0.41535	0.561000	0.74099	CGC		0.682	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		5	167	0	0	0	0.184627	0	5	167				
FAT4	79633	broad.mit.edu	37	4	126337635	126337635	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr4:126337635C>G	ENST00000394329.3	+	6	6889	c.6876C>G	c.(6874-6876)aaC>aaG	p.N2292K	FAT4_ENST00000335110.5_Missense_Mutation_p.N590K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2292	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N2292K(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGGATCTAACAGCAAACTCT	0.413																																						ENST00000394329.3																			2	Substitution - Missense(2)	p.N2292K(2)	prostate(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6874-6876)aaC>aaG		FAT atypical cadherin 4							295.0	281.0	286.0					4																	126337635		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126337635C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6876C>G	4.37:g.126337635C>G	ENSP00000377862:p.Asn2292Lys					FAT4_ENST00000335110.5_Missense_Mutation_p.N590K	p.N2292K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			6	6889	+			2292			Cadherin 22.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6876C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136979	0.56936	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.59906	0.23;0.23	5.23	1.44	0.22558	Cadherin (4);Cadherin-like (1);	0.000000	0.36815	U	0.002398	T	0.80803	0.4693	H	0.97103	3.94	0.44030	D	0.996755	D;D	0.89917	0.995;1.0	D;D	0.87578	0.97;0.998	T	0.79931	-0.1595	10	0.59425	D	0.04	.	9.1367	0.36879	0.0:0.62:0.0:0.38	.	590;2292	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	K	2292;590	ENSP00000377862:N2292K;ENSP00000335169:N590K	ENSP00000335169:N590K	N	+	3	2	FAT4	126557085	0.262000	0.24073	0.936000	0.37596	0.856000	0.48823	-0.283000	0.08433	-0.049000	0.13379	-0.244000	0.11960	AAC		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		118	391	0	0	0	0.870114	0	118	391				
ANKRD26	22852	broad.mit.edu	37	10	27329050	27329050	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr10:27329050T>C	ENST00000376087.4	-	21	2384	c.2219A>G	c.(2218-2220)gAa>gGa	p.E740G	ANKRD26_ENST00000376070.3_Missense_Mutation_p.E297G|ANKRD26_ENST00000436985.2_Missense_Mutation_p.E756G	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	739					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.E740G(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTTTTTAAGTTCTAATAATCT	0.294																																						ENST00000376087.4																			1	Substitution - Missense(1)	p.E740G(1)	prostate(1)	breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(2218-2220)gAa>gGa		ankyrin repeat domain 26							70.0	62.0	64.0					10																	27329050		1796	4066	5862	SO:0001583	missense	22852					centrosome		g.chr10:27329050T>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2219A>G	10.37:g.27329050T>C	ENSP00000365255:p.Glu740Gly					ANKRD26_ENST00000376070.3_Missense_Mutation_p.E297G|ANKRD26_ENST00000436985.2_Missense_Mutation_p.E756G	p.E740G	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			21	2384	-			739					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.2219A>G	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495333	0.64186	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.20738	2.05;2.05;2.05	5.18	4.03	0.46877	.	0.112714	0.37669	N	0.001994	T	0.42899	0.1223	M	0.71036	2.16	0.09310	N	1	D;D;D	0.71674	0.996;0.994;0.998	P;P;D	0.78314	0.872;0.748;0.991	T	0.26573	-1.0099	10	0.87932	D	0	.	10.6425	0.45600	0.0:0.0:0.1615:0.8385	.	740;739;756	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	G	297;740;756	ENSP00000365238:E297G;ENSP00000365255:E740G;ENSP00000405112:E756G	ENSP00000365238:E297G	E	-	2	0	ANKRD26	27369056	1.000000	0.71417	0.025000	0.17156	0.964000	0.63967	4.090000	0.57693	0.884000	0.36064	0.477000	0.44152	GAA		0.294	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			7	102	0	0	0	0.307466	0	7	102				
MLLT1	4298	broad.mit.edu	37	19	6216424	6216424	+	Silent	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:6216424C>T	ENST00000252674.7	-	8	1462	c.1299G>A	c.(1297-1299)agG>agA	p.R433R	MLLT1_ENST00000585588.1_5'UTR	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	433					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)	p.R433R(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						ACCTGGAGTCCCTCCCCGGGT	0.711			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		1	Substitution - coding silent(1)	p.R433R(1)	prostate(1)	endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(1297-1299)agG>agA		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							16.0	15.0	16.0					19																	6216424		2198	4294	6492	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6216424C>T		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1299G>A	19.37:g.6216424C>T						MLLT1_ENST00000585588.1_5'UTR	p.R433R	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			8	1462	-			433					Q14768	Silent	SNP	ENST00000252674.7	37	c.1299G>A	CCDS12160.1																																																																																				0.711	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		3	15	0	0	0	0.115264	0	3	15				
DOCK2	1794	broad.mit.edu	37	5	169483749	169483749	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:169483749G>A	ENST00000256935.8	+	43	4437	c.4357G>A	c.(4357-4359)Gta>Ata	p.V1453I	DOCK2_ENST00000540750.1_Missense_Mutation_p.V514I|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.V945I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1453	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.V1453I(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGGGGACCGTAGACCCAGA	0.557																																						ENST00000256935.8																			1	Substitution - Missense(1)	p.V1453I(1)	prostate(1)	NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(4357-4359)Gta>Ata		dedicator of cytokinesis 2							116.0	91.0	99.0					5																	169483749		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169483749G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4357G>A	5.37:g.169483749G>A	ENSP00000256935:p.Val1453Ile					DOCK2_ENST00000520908.1_Missense_Mutation_p.V945I|DOCK2_ENST00000540750.1_Missense_Mutation_p.V514I|DOCK2_ENST00000523351.1_3'UTR	p.V1453I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		43	4437	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1453			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4357G>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	8.263	0.811589	0.16537	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.17691	2.26;2.26;2.26	5.27	4.4	0.53042	.	0.211156	0.40144	N	0.001168	T	0.12561	0.0305	L	0.35341	1.055	0.09310	N	0.999999	B;B	0.22604	0.0;0.072	B;B	0.09377	0.0;0.004	T	0.17258	-1.0375	10	0.35671	T	0.21	.	9.9411	0.41580	0.1548:0.0:0.8452:0.0	.	945;1453	E7ERW7;Q92608	.;DOCK2_HUMAN	I	1453;945;514	ENSP00000256935:V1453I;ENSP00000429283:V945I;ENSP00000438827:V514I	ENSP00000256935:V1453I	V	+	1	0	DOCK2	169416327	1.000000	0.71417	0.006000	0.13384	0.210000	0.24377	3.585000	0.53943	1.212000	0.43366	0.650000	0.86243	GTA		0.557	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		18	50	0	0	0	0.539581	0	18	50				
LOXL2	4017	broad.mit.edu	37	8	23191091	23191091	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr8:23191091C>T	ENST00000389131.3	-	5	1158	c.789G>A	c.(787-789)atG>atA	p.M263I	RP11-177H13.2_ENST00000519692.1_RNA|LOXL2_ENST00000518472.1_5'Flank	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	263	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)	p.M263I(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CGGTGCAGTCCATGGAGAATG	0.612																																						ENST00000389131.3																			1	Substitution - Missense(1)	p.M263I(1)	prostate(1)	breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(787-789)atG>atA		lysyl oxidase-like 2							72.0	59.0	63.0					8																	23191091		2203	4300	6503	SO:0001583	missense	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23191091C>T	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.789G>A	8.37:g.23191091C>T	ENSP00000373783:p.Met263Ile						p.M263I	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	5	1158	-		Prostate(55;0.0453)|Breast(100;0.143)	263			SRCR 2.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.789G>A	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	c	14.18	2.457182	0.43634	.	.	ENSG00000134013	ENST00000389131	T	0.31510	1.49	5.93	5.93	0.95920	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.193076	0.64402	D	0.000009	T	0.22085	0.0532	N	0.25144	0.715	0.26372	N	0.976876	B	0.02656	0.0	B	0.06405	0.002	T	0.10337	-1.0634	10	0.45353	T	0.12	.	12.3009	0.54874	0.0:0.9225:0.0:0.0775	.	263	Q9Y4K0	LOXL2_HUMAN	I	263	ENSP00000373783:M263I	ENSP00000373783:M263I	M	-	3	0	LOXL2	23247036	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.655000	0.37345	2.829000	0.97493	0.645000	0.84053	ATG		0.612	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			24	61	0	0	0	0.654019	0	24	61				
SH3BP1	23616	broad.mit.edu	37	22	38039665	38039665	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr22:38039665C>A	ENST00000357436.4	+	7	801	c.488C>A	c.(487-489)aCc>aAc	p.T163N	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000336738.5_Missense_Mutation_p.T163N|SH3BP1_ENST00000599616.1_Missense_Mutation_p.T99N|SH3BP1_ENST00000442465.2_Missense_Mutation_p.T163N	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	163	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)	p.T163N(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					AGTCAGGCAACCAAGAATTCA	0.587											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000599616.1																			1	Substitution - Missense(1)	p.T163N(1)	prostate(1)	breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(295-297)aCc>aAc		SH3-domain binding protein 1							141.0	104.0	117.0					22																	38039665		2203	4300	6503	SO:0001583	missense	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38039665C>A		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.488C>A	22.37:g.38039665C>A	ENSP00000350018:p.Thr163Asn		OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SH3BP1_ENST00000357436.4_Missense_Mutation_p.T163N|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000336738.5_Missense_Mutation_p.T163N|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Missense_Mutation_p.T163N	p.T99N			Q9Y3L3	3BP1_HUMAN			5	296	+	Melanoma(58;0.0574)		163			BAR.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	c.296C>A	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792833	0.50102	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.62788	-0.0;-0.0;-0.0	5.2	4.17	0.49024	BAR (2);	0.506534	0.19504	N	0.112669	T	0.44932	0.1317	L	0.32530	0.975	0.29387	N	0.862887	B;P;B;B;P	0.36392	0.162;0.551;0.144;0.302;0.551	B;B;B;B;B	0.34489	0.133;0.184;0.074;0.158;0.129	T	0.34950	-0.9808	10	0.16420	T	0.52	.	8.0468	0.30553	0.1577:0.7617:0.0:0.0805	.	163;77;99;163;77	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	N	163;163;163;77	ENSP00000350018:T163N;ENSP00000337213:T163N;ENSP00000395126:T163N	ENSP00000337213:T163N	T	+	2	0	SH3BP1	36369611	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	1.566000	0.36396	1.333000	0.45449	0.561000	0.74099	ACC		0.587	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		4	78	1	0	0.150653	0.150653	0.164904	4	78				
TYW1	55253	broad.mit.edu	37	7	66548462	66548462	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr7:66548462C>A	ENST00000359626.5	+	11	1484	c.1320C>A	c.(1318-1320)gaC>gaA	p.D440E		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	440					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.D440E(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GGAAGATGGACCAGCCTGAAA	0.443																																						ENST00000359626.5																			1	Substitution - Missense(1)	p.D440E(1)	prostate(1)	breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(1318-1320)gaC>gaA		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							96.0	93.0	94.0					7																	66548462		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66548462C>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1320C>A	7.37:g.66548462C>A	ENSP00000352645:p.Asp440Glu						p.D440E	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			11	1484	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	440					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.1320C>A	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477772	0.84640	.	.	ENSG00000198874	ENST00000359626	D	0.90261	-2.64	4.62	4.62	0.57501	Radical SAM (1);	0.000000	0.85682	U	0.000000	D	0.95943	0.8679	M	0.89904	3.07	0.58432	D	0.999997	D	0.65815	0.995	D	0.79108	0.992	D	0.96802	0.9590	10	0.87932	D	0	.	15.333	0.74229	0.0:1.0:0.0:0.0	.	440	Q9NV66	TYW1_HUMAN	E	440	ENSP00000352645:D440E	ENSP00000352645:D440E	D	+	3	2	TYW1	66185897	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.451000	0.52964	2.273000	0.75805	0.603000	0.83216	GAC		0.443	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		5	151	1	0	0.000602214	0.184627	0.000696848	5	151				
DMRT2	10655	broad.mit.edu	37	9	1053761	1053761	+	Missense_Mutation	SNP	C	C	T	rs201585505		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr9:1053761C>T	ENST00000358146.2	+	2	565	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C	DMRT2_ENST00000259622.6_Missense_Mutation_p.R189C|DMRT2_ENST00000302441.6_Missense_Mutation_p.R189C|DMRT2_ENST00000382255.3_Missense_Mutation_p.R189C|DMRT2_ENST00000412350.2_Missense_Mutation_p.R189C|DMRT2_ENST00000382251.3_Missense_Mutation_p.R189C			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	189					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|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)	p.R189C(2)		large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TAATTTCGAGCGCAAAGCTGT	0.448													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16604	0.0		0.0	False		,,,				2504	0.0					ENST00000259622.6																			2	Substitution - Missense(2)	p.R189C(2)	prostate(2)	large_intestine(1)|lung(1)|prostate(2)	4						c.(565-567)Cgc>Tgc		doublesex and mab-3 related transcription factor 2							86.0	91.0	89.0					9																	1053761		2203	4300	6503	SO:0001583	missense	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1053761C>T	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.565C>T	9.37:g.1053761C>T	ENSP00000350865:p.Arg189Cys					DMRT2_ENST00000412350.2_Missense_Mutation_p.R189C|DMRT2_ENST00000382251.3_Missense_Mutation_p.R189C|DMRT2_ENST00000358146.2_Missense_Mutation_p.R189C|DMRT2_ENST00000382255.3_Missense_Mutation_p.R189C|DMRT2_ENST00000302441.6_Missense_Mutation_p.R189C	p.R189C			Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	2	565	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	189					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	c.565C>T	CCDS6444.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	21.5	4.165078	0.78339	.	.	ENSG00000173253	ENST00000382255;ENST00000382251;ENST00000412350;ENST00000302441;ENST00000358146;ENST00000259622	T;T;T;T;T;T	0.59906	0.23;1.46;0.23;1.46;1.46;0.23	5.72	5.72	0.89469	.	0.073111	0.49916	D	0.000135	T	0.76263	0.3963	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.93;0.997;0.999	T	0.77480	-0.2572	10	0.87932	D	0	-15.5272	19.4782	0.94998	0.0:1.0:0.0:0.0	.	189;189;33	Q05C20;Q9Y5R5;Q5HYK2	.;DMRT2_HUMAN;.	C	189	ENSP00000371690:R189C;ENSP00000371686:R189C;ENSP00000397494:R189C;ENSP00000305785:R189C;ENSP00000350865:R189C;ENSP00000259622:R189C	ENSP00000259622:R189C	R	+	1	0	DMRT2	1043761	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.751000	0.55165	2.692000	0.91855	0.555000	0.69702	CGC		0.448	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		14	158	0	0	0	0.479597	0	14	158				
PRAMEF7	441871	broad.mit.edu	37	1	12979764	12979764	+	Missense_Mutation	SNP	G	G	A	rs369932937		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:12979764G>A	ENST00000361079.2	+	4	1039	c.956G>A	c.(955-957)cGt>cAt	p.R319H	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	319					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R319H(2)		endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCGAGCATCCGTCAATTAAAG	0.587																																						ENST00000361079.2																			2	Substitution - Missense(2)	p.R319H(2)	prostate(2)	endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18						c.(955-957)cGt>cAt		PRAME family member 7		G	HIS/ARG	1,4403		0,1,2201	89.0	82.0	85.0		956	-0.3	0.0	1		85	0,8592		0,0,4296	no	missense	PRAMEF7	NM_001012277.1	29	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	319/475	12979764	1,12995	2202	4296	6498	SO:0001583	missense	441871							g.chr1:12979764G>A		CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"""-"""	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.956G>A	1.37:g.12979764G>A	ENSP00000354371:p.Arg319His						p.R319H						UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1039	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)						B9EIP0	Missense_Mutation	SNP	ENST00000361079.2	37	c.956G>A	CCDS30593.1	.	.	.	.	.	.	.	.	.	.	.	10.93	1.490801	0.26774	2.27E-4	0.0	ENSG00000204510	ENST00000361079;ENST00000330881	T;T	0.09255	3.0;3.0	1.68	-0.352	0.12598	.	0.979768	0.08388	N	0.953488	T	0.09992	0.0245	N	0.15975	0.35	0.09310	N	1	D	0.76494	0.999	P	0.61132	0.884	T	0.23547	-1.0185	10	0.15499	T	0.54	.	1.9777	0.03419	0.3601:0.0:0.3772:0.2627	.	319	Q5VXH5	PRAM7_HUMAN	H	319	ENSP00000354371:R319H;ENSP00000328915:R319H	ENSP00000328915:R319H	R	+	2	0	PRAMEF7	12902351	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.739000	0.04866	-0.101000	0.12219	0.306000	0.20318	CGT		0.587	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012277		18	213	0	0	0	0.654019	0	18	213				
AUNIP	79000	broad.mit.edu	37	1	26186960	26186960	+	5'Flank	DEL	T	T	-			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:26186960delT	ENST00000374298.3	-	0	0				RP1-125I3.2_ENST00000455431.1_RNA|AUNIP_ENST00000538789.1_5'Flank	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein						spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											AATTTTGTAATTTTTTTTTTT	0.552																																						ENST00000455431.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr1:26186960delT		CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 135"""	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372		1.37:g.26186960delT	Exception_encountered													0	263	+								C9EI59|Q53F70	RNA	DEL	ENST00000374298.3	37		CCDS266.1																																																																																				0.552	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019309.2	NM_024037		3	4						3	4	---	---	---	---
IGKV1D-8	28904	broad.mit.edu	37	2	90259860	90259861	+	RNA	INS	-	-	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:90259860_90259861insC	ENST00000471857.1	+	0	236									immunoglobulin kappa variable 1D-8																		AATTTACTCAGCCAATGTGCTC	0.48																																						ENST00000471857.1																			0																																																			0							g.chr2:90259860_90259861insC	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90259862_90259862dupC														0	236	+									RNA	INS	ENST00000471857.1	37																																																																																						0.480	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		7	286						7	286	---	---	---	---
LOC151475	151475	broad.mit.edu	37	2	231563940	231563947	+	lincRNA	DEL	GAAGGAAG	GAAGGAAG	-	rs372995486|rs200750131		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:231563940_231563947delGAAGGAAG	ENST00000415174.1	-	0	207					NR_040038.1																						gggagggagagaaggaaggaaggaagga	0.505																																						ENST00000415174.1																			0																																																			0							g.chr2:231563940_231563947delGAAGGAAG																													2.37:g.231563948_231563955delGAAGGAAG								NR_040038.1						0	207	-									RNA	DEL	ENST00000415174.1	37																																																																																						0.505	AC098823.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000332602.1			2	4						2	4	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87965133	87965137	+	Frame_Shift_Del	DEL	AGTAA	AGTAA	-			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr6:87965133_87965137delAGTAA	ENST00000369577.3	+	8	1829_1833	c.1786_1790delAGTAA	c.(1786-1791)agtaaafs	p.SK596fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.SK591fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	596						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAAACAATCTAGTAAAGAGAGACTA	0.361																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(1786-1791)afs		zinc finger protein 292																																				SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87965133_87965137delAGTAA	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1786_1790delAGTAA	6.37:g.87965133_87965137delAGTAA	ENSP00000358590:p.Ser596fs					ZNF292_ENST00000339907.4_Frame_Shift_Del_p.SK591fs	p.SK596fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	1829_1833	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	596					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	c.1786_1790delAGTAA	CCDS47457.1																																																																																				0.361	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		10	76						10	76	---	---	---	---
AGAP11	119385	broad.mit.edu	37	10	88767684	88767686	+	RNA	DEL	TCT	TCT	-	rs367961074|rs200372151		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr10:88767684_88767686delTCT	ENST00000444431.1	+	0	2711				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.10_ENST00000451760.1_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										AGAAAATGTATCttttttttttt	0.414																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11																																						119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88767684_88767686delTCT			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88767684_88767686delTCT						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	2711	+								B9EIP7|D3DWE4	RNA	DEL	ENST00000444431.1	37																																																																																						0.414	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		2	4						2	4	---	---	---	---
WNT10B	7480	broad.mit.edu	37	12	49363901	49363902	+	Frame_Shift_Ins	INS	-	-	GGGG	rs143694346		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr12:49363901_49363902insGGGG	ENST00000301061.4	-	3	655_656	c.307_308insCCCC	c.(307-309)ctgfs	p.L103fs	WNT10B_ENST00000403957.1_Frame_Shift_Ins_p.L103fs|WNT10B_ENST00000407467.1_Frame_Shift_Ins_p.L103fs	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	103					bone trabecula formation (GO:0060346)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to cAMP (GO:0071320)|cellular response to hydrostatic pressure (GO:0071464)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fungiform papilla development (GO:0061196)|G2/M transition of mitotic cell cycle (GO:0000086)|hematopoietic stem cell proliferation (GO:0071425)|lipid metabolic process (GO:0006629)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of anagen (GO:0051885)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of skeletal muscle tissue development (GO:0048641)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GTGGTGCGGCAGGCGGCCGCCG	0.752																																						ENST00000301061.4																			0				central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						c.(307-309)gccfs		wingless-type MMTV integration site family, member 10B																																				SO:0001589	frameshift_variant	7480				axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr12:49363901_49363902insGGGG	X97057	CCDS8775.1	12q13	2009-01-02			ENSG00000169884	ENSG00000169884		"""Wingless-type MMTV integration sites"""	12775	protein-coding gene	gene with protein product		601906				9121776, 9284937, 18515319	Standard	NM_003394		Approved	WNT-12, SHFM6	uc001rss.3	O00744	OTTHUMG00000150734	ENST00000301061.4:c.307_308insCCCC	12.37:g.49363901_49363902insGGGG	ENSP00000301061:p.Leu103fs					WNT10B_ENST00000407467.1_Frame_Shift_Ins_p.A103fs|WNT10B_ENST00000403957.1_Frame_Shift_Ins_p.A103fs	p.A103fs	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN			3	655_656	-			103					B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Frame_Shift_Ins	INS	ENST00000301061.4	37	c.307_308insCCCC	CCDS8775.1																																																																																				0.752	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319864.1	NM_003394		4	4						4	4	---	---	---	---
